What is hypokalemic periodic paralysis?
Hypokalemic periodic paralysis is a condition that causes episodes of extreme muscle weakness typically beginning in childhood or adolescence. Most often, these episodes involve a temporary inability to move muscles in the arms and legs. Attacks cause severe weakness or paralysis that usually lasts from hours to days. Some people may have episodes almost every day, while others experience them weekly, monthly, or only rarely. Attacks can occur without warning or can be triggered by factors such as rest after exercise, a viral illness, or certain medications. Often, a large, carbohydrate-rich meal or vigorous exercise in the evening can trigger an attack upon waking the following morning. Although affected individuals usually regain their muscle strength between attacks, repeated episodes can lead to persistent muscle weakness later in life.
People with hypokalemic periodic paralysis have reduced levels of potassium in their blood (hypokalemia) during episodes of muscle weakness. Researchers are investigating how low potassium levels may be related to the muscle abnormalities in this condition.
How common is hypokalemic periodic paralysis?
Although its exact prevalence is unknown, hypokalemic periodic paralysis is estimated to affect 1 in 100,000 people. Men tend to experience symptoms of this condition more often than women.
Diagnosis/testing. The diagnosis of HOKPP is based on a history of episodes of flaccid paralysis; low serum concentration of potassium (<0.9 to 3.0 mmol/L) during attacks; the absence of myotonia clinically and on electromyography (EMG) (with the exception of one family with heat-induced myotonia and cold-induced HOKPP); and a family history consistent with autosomal dominant inheritance. Molecular genetic testing identifies disease-causing mutations in CACNA1S or SCN4A in 80% of individuals meeting clinical diagnostic criteria. Of all individuals with HOKPP, about 55-70% have mutations in CACNA1S and about 8-10% in SCN4A. Such testing is clinically available.
Management. Treatment of a paralytic crisis by administration of potassium by mouth or IV aims to normalize the serum concentration of potassium and to shorten the paralytic episode. ECG and blood potassium concentration must be monitored during treatment. Surveillance depends on the affected individual's symptoms and response to preventive treatment. Neurologic examination should focus on muscle strength in the legs to detect permanent weakness associated with myopathy. A number of factors can trigger paralytic attacks: unusually strenuous effort, excess of carbohydrate-rich meals, sweets, and alcohol should be avoided; oral or intravenous corticosteroids should be used with care; glucose infusion should be replaced by another type of infusion.
Potassium in doses of 0.2 to 0.4 mmol/kg is administered orally every 15 to 30 minutes over one to three hours.
If the individual is unable to swallow or does not tolerate potassium by mouth, potassium may be administered intravenously. In that case, it must be diluted in 5% mannitol rather than in glucose or sodium chloride, which trigger crises in individuals with HOKPP. The concentration of potassium administered intravenously must not exceed 40 mmol/L and the flow must not exceed 20 mmol/hour or 200-250 mmol/day; administration must be stopped when the serum potassium concentration is normalized, even if weakness persists.
Because the hypokalemia and subsequent changes in potassium
Genetic counseling. HOKPP is inherited in an autosomal dominant manner. Most individuals diagnosed with HOKPP have an affected parent. The proportion of cases caused by a de novo gene mutation is unknown. Offspring of a proband have a 50% risk of inheriting the mutation. Penetrance is about 90% in males and may be as low as 50% in females depending on the causative mutation. Prenatal testing is possible if the disease-causing mutation has been identified in the proband; however, requests for prenatal testing for conditions such as HOKPP that do not affect intellect and have some treatment available are not common.
POTASSIUM
Showing posts with label treatment. Show all posts
Showing posts with label treatment. Show all posts
Thursday, 22 November 2007
Treatment of genetic diseases in tha real world 8: Hemochromatosis
Disease characteristics. HFE-associated hereditary hemochromatosis (HFE-HHC) is characterized by inappropriately high absorption of iron by the gastrointestinal mucosa, resulting in excessive storage of iron particularly in the liver, skin, pancreas, heart, joints, and testes. Abdominal pain, weakness, lethargy, and weight loss are early symptoms. Without therapy, males may develop symptoms between age 40 and 60 years and females after menopause. Hepatic fibrosis or cirrhosis may occur in untreated individuals after age 40 years. Other findings in untreated individuals may include progressive increase in skin pigmentation, diabetes mellitus, congestive heart failure and/or arrhythmias, arthritis, and hypogonadism.--> -->This description applies to individuals with clinical expression of HFE-HHC. A large, but yet as undefined, fraction of homozygotes for HFE-HHC do not develop clinical symptoms (i.e., penetrance is low).
Diagnosis/testing. The diagnosis of HFE-HHC in individuals with clinical symptoms consistent with HFE-HHC and/or biochemical evidence of iron overload is typically based on the results of the screening tests transferrin-iron saturation and serum ferritin concentration, and of confirmatory tests such as molecular genetic testing for the p.C282Y and p.H63D mutations in the HFE gene and/or histologic assessment of hepatic iron stores on liver biopsy. A threshold transferrin-iron saturation of 45% may be more sensitive for detecting HFE-HHC than the higher values used in the past. Although serum ferritin concentration may increase progressively over time in untreated individuals with HFE-HHC, it is not specific for HFE-HHC and cannot be used alone for identification of individuals with HFE-HHC. About 87% of individuals of European origin with HFE-HHC are either homozygotes for the p.C282Y mutation or compound heterozygotes for the p.C282Y and p.H63D mutations.
Management. Evaluations at initial diagnosis: liver biopsy in individuals with serum ferritin concentration greater than 1000 ng/mL to determine if cirrhosis is present. Treatment of manifestations: There is no general agreement that phlebotomy (removal of blood) treatment is indicated in the presence of biochemically defined abnormalities (i.e., elevated transferrin-iron saturation and elevated serum ferritin concentration) and the absence of characteristic clinical endpoints (i.e., diabetes mellitus, cirrhosis, and liver carcinoma). Since the long-term clinical course appears benign in the majority of those who have abnormal laboratory tests only, phlebotomy may be deferred; biannual follow-up testing for increasingly abnormal serum ferritin concentration and transferrin-iron saturation levels is recommended. In the presence of characteristic clinical endpoints, treatment by phlebotomy is indicated to maintain serum ferritin concentration at 50 ng/mL or lower. If affected individuals are identified before hepatic cirrhosis develops and if total body iron depletion is successfully accomplished by therapeutic phlebotomy, life expectancy approaches normal.
Genetic counseling. HFE-HHC is inherited in an autosomal recessive manner. Usually the genetic risk to sibs of a proband of having HFE-HHC is 25%. However, the high carrier frequency for a mutant HFE allele in the general population of European origin (11% of the population, or 1/9 persons) means that on occasion one parent has two abnormal HFE alleles, usually in the absence of clinical findings. In such instances, the risk to each sib of a proband of being homozygous for HFE-HHC is 50%. Offspring of an individual with HFE-HHC inherit one mutant HFE allele from the affected parent. Because the chance that the other parent is a carrier for a mutant HFE allele is 1/9, the risk to the offspring of having HFE-HHC is about 5%. Although prenatal testing would be technically feasible when both parents carry identified HFE mutations, such requests would be highly unusual because HFE-HHC is an adult-onset, treatable disease and the homozygous p.C282Y mutation has low clinical penetrance.
THERAPEUTIC PHLEBOTOMY
Diagnosis/testing. The diagnosis of HFE-HHC in individuals with clinical symptoms consistent with HFE-HHC and/or biochemical evidence of iron overload is typically based on the results of the screening tests transferrin-iron saturation and serum ferritin concentration, and of confirmatory tests such as molecular genetic testing for the p.C282Y and p.H63D mutations in the HFE gene and/or histologic assessment of hepatic iron stores on liver biopsy. A threshold transferrin-iron saturation of 45% may be more sensitive for detecting HFE-HHC than the higher values used in the past. Although serum ferritin concentration may increase progressively over time in untreated individuals with HFE-HHC, it is not specific for HFE-HHC and cannot be used alone for identification of individuals with HFE-HHC. About 87% of individuals of European origin with HFE-HHC are either homozygotes for the p.C282Y mutation or compound heterozygotes for the p.C282Y and p.H63D mutations.
Management. Evaluations at initial diagnosis: liver biopsy in individuals with serum ferritin concentration greater than 1000 ng/mL to determine if cirrhosis is present. Treatment of manifestations: There is no general agreement that phlebotomy (removal of blood) treatment is indicated in the presence of biochemically defined abnormalities (i.e., elevated transferrin-iron saturation and elevated serum ferritin concentration) and the absence of characteristic clinical endpoints (i.e., diabetes mellitus, cirrhosis, and liver carcinoma). Since the long-term clinical course appears benign in the majority of those who have abnormal laboratory tests only, phlebotomy may be deferred; biannual follow-up testing for increasingly abnormal serum ferritin concentration and transferrin-iron saturation levels is recommended. In the presence of characteristic clinical endpoints, treatment by phlebotomy is indicated to maintain serum ferritin concentration at 50 ng/mL or lower. If affected individuals are identified before hepatic cirrhosis develops and if total body iron depletion is successfully accomplished by therapeutic phlebotomy, life expectancy approaches normal.
Genetic counseling. HFE-HHC is inherited in an autosomal recessive manner. Usually the genetic risk to sibs of a proband of having HFE-HHC is 25%. However, the high carrier frequency for a mutant HFE allele in the general population of European origin (11% of the population, or 1/9 persons) means that on occasion one parent has two abnormal HFE alleles, usually in the absence of clinical findings. In such instances, the risk to each sib of a proband of being homozygous for HFE-HHC is 50%. Offspring of an individual with HFE-HHC inherit one mutant HFE allele from the affected parent. Because the chance that the other parent is a carrier for a mutant HFE allele is 1/9, the risk to the offspring of having HFE-HHC is about 5%. Although prenatal testing would be technically feasible when both parents carry identified HFE mutations, such requests would be highly unusual because HFE-HHC is an adult-onset, treatable disease and the homozygous p.C282Y mutation has low clinical penetrance.
THERAPEUTIC PHLEBOTOMY
Treament of genetic diseases in a real world 7: Wilson disease
See clinical synopsis in this link: wilson disease
Wilson disease can be treated effectively with metal chelating agent:
d-penicillamine (Cuprimine) especially in mild or asymptomatic cases, but patients with neurological symptoms way be worsen in the early period after treatment, and trientine(Syprine )is recommended for acute neurological alterations. Long term side effects of d-penicillamine is nephrotic syndrome, skin disruption and immune and bone marrow suppression. Zinc suphate is used in asymptomatic case or in maintenance phase after d-penicillamine treatment.
Agents/Circumstances to Avoid
Foods very high in copper (liver, brain, chocolate, mushrooms, shellfish, nuts), especially at the beginning of treatment
Wilson disease can be treated effectively with metal chelating agent:
d-penicillamine (Cuprimine) especially in mild or asymptomatic cases, but patients with neurological symptoms way be worsen in the early period after treatment, and trientine(Syprine )is recommended for acute neurological alterations. Long term side effects of d-penicillamine is nephrotic syndrome, skin disruption and immune and bone marrow suppression. Zinc suphate is used in asymptomatic case or in maintenance phase after d-penicillamine treatment.
Agents/Circumstances to Avoid
Foods very high in copper (liver, brain, chocolate, mushrooms, shellfish, nuts), especially at the beginning of treatment
Treatment of genetic diseases in a real world 6: Maturity Onset of Diabetes in the young (MODY)
WHAT IS MATURITY-ONSET DIABETES OF THE YOUNG (MODY)?
Maturity-Onset Diabetes of the Young or MODY affects 1-2% of people with diabetes, although it often goes unrecognised.
The 3 main features of MODY are:
Diabetes often develops before the age of 25
Diabetes runs in families from one generation to the next
Diabetes may be treated by diet or tablets and does not always need insulin treatment
WHY DOES MODY RUN IN FAMILIES?
MODY runs in families because of a change in a single gene which is passed on by affected parents to their children. We call this Autosomal Dominant Inheritance. All children of an affected parent with MODY have a 50% chance of inheriting the affected gene and developing MODY themselves.
WHY IS IT IMPORTANT TO RECOGNISE IT?
There are different types of MODY. By finding out which type of MODY a person has the most appropriate treatment for them can be determined.
Knowing the type of MODY a person has also means we can advise them about how their diabetes will progress in the future.
As it runs in families, it is important to advise other family members of their risk of inheriting it.
WHAT DIFFERENT TYPES OF MODY HAVE BEEN IDENTIFIED?
MODY is caused by a change in a single gene. 6 genes have been identified that account for 87% of UK MODY:
HNF1-a
Treatment for patients with HNF1-a
Patients with HNF-1a MODY are extremely sensitive to the blood sugar lowering effects of a group of drugs called sulphonylureas (SU). This is an example of pharmacogenetics in diabetes – a persons genes influencing response to treatment. SUs include drugs like Gliclazide, Glipizide, Glibenclamide, Tolbutamide. SUs work to stimulate the pancreas to produce insulin. Preliminary findings are that SU sensitivity in HNF-1a MODY is due to two factors: Firstly, an increased pancreatic response to SUs, and secondly an increased sensitivity to insulin compared with Type 2 diabetes.
Glucokinase
HNF1-b (including Renal Cysts and Diabetes (RCAD)
HNF4-a
IPF1
Neuro D1
Changes in these different genes lead to different types of MODY. There are still more genes to identify as 13% of MODY is not yet accounted for.
http://www.projects.ex.ac.uk/diabetesgenes/mody/ATHtalk.PPT
Maturity-Onset Diabetes of the Young or MODY affects 1-2% of people with diabetes, although it often goes unrecognised.
The 3 main features of MODY are:
Diabetes often develops before the age of 25
Diabetes runs in families from one generation to the next
Diabetes may be treated by diet or tablets and does not always need insulin treatment
WHY DOES MODY RUN IN FAMILIES?
MODY runs in families because of a change in a single gene which is passed on by affected parents to their children. We call this Autosomal Dominant Inheritance. All children of an affected parent with MODY have a 50% chance of inheriting the affected gene and developing MODY themselves.
WHY IS IT IMPORTANT TO RECOGNISE IT?
There are different types of MODY. By finding out which type of MODY a person has the most appropriate treatment for them can be determined.
Knowing the type of MODY a person has also means we can advise them about how their diabetes will progress in the future.
As it runs in families, it is important to advise other family members of their risk of inheriting it.
WHAT DIFFERENT TYPES OF MODY HAVE BEEN IDENTIFIED?
MODY is caused by a change in a single gene. 6 genes have been identified that account for 87% of UK MODY:
HNF1-a
Treatment for patients with HNF1-a
Patients with HNF-1a MODY are extremely sensitive to the blood sugar lowering effects of a group of drugs called sulphonylureas (SU). This is an example of pharmacogenetics in diabetes – a persons genes influencing response to treatment. SUs include drugs like Gliclazide, Glipizide, Glibenclamide, Tolbutamide. SUs work to stimulate the pancreas to produce insulin. Preliminary findings are that SU sensitivity in HNF-1a MODY is due to two factors: Firstly, an increased pancreatic response to SUs, and secondly an increased sensitivity to insulin compared with Type 2 diabetes.
Glucokinase
HNF1-b (including Renal Cysts and Diabetes (RCAD)
HNF4-a
IPF1
Neuro D1
Changes in these different genes lead to different types of MODY. There are still more genes to identify as 13% of MODY is not yet accounted for.
http://www.projects.ex.ac.uk/diabetesgenes/mody/ATHtalk.PPT
Wednesday, 21 November 2007
Treatment of genetic diseases: in the real world. 5. Marfan syndrome
Marfan Syndrome is a multisystem inherited diseases; the major organ involvement is cardiovascular system. patient s with Marfan Syndrome will gradually develop enlargment of the great artery of heart (Aorta) due to weakness of the supporting tissues and leading to tearing (dissection) which are mostly fatal. See more informations of Marfan Syndrome in the link provided
http://clinicalgenetics.blogspot.com/2007/11/marfan-syndrome.html
Treatment of Marfan Syndrome is including advice to avoid vigorous exercise and regularly taking drug which reduce the force of heart beat that are proved to slow progression of the disease. Echocardiography (Ultrasound image of the heart and arteries) periodically to measure sizes of arteries in case of too much enlarge that hhaving high risk for tearing or rupture, prophylactic surgery will have done.
Drug use in Marfan Syndrome
Propanolol Inderal from Wyeth NEngl J Med. 1994 May 12;330(19):1335-41
Enalapril Renitec from Merck Am J Cardiol 2005;95:1125–1127
Atenolo and losartan
A Clinical Trial Comparing Atenolol and Losartan Is Beginning
Reed E. Pyeritz, M.D., Ph.D.
Professor of Medicine & Genetics
University of Pennsylvania School of Medicine
Philadelphia, PA, USA
http://clinicalgenetics.blogspot.com/2007/11/marfan-syndrome.html
Treatment of Marfan Syndrome is including advice to avoid vigorous exercise and regularly taking drug which reduce the force of heart beat that are proved to slow progression of the disease. Echocardiography (Ultrasound image of the heart and arteries) periodically to measure sizes of arteries in case of too much enlarge that hhaving high risk for tearing or rupture, prophylactic surgery will have done.
Drug use in Marfan Syndrome
Propanolol Inderal from Wyeth NEngl J Med. 1994 May 12;330(19):1335-41
Enalapril Renitec from Merck Am J Cardiol 2005;95:1125–1127
Atenolo and losartan
A Clinical Trial Comparing Atenolol and Losartan Is Beginning
Reed E. Pyeritz, M.D., Ph.D.
Professor of Medicine & Genetics
University of Pennsylvania School of Medicine
Philadelphia, PA, USA
Treatment of genetic diseases: in the real world.4. klinefelter's syndrome
What is Klinefelter syndrome?
Klinefelter syndrome is a chromosomal condition that affects male sexual development. Most males with Klinefelter syndrome have one extra copy of the X chromosome in each cell. Because their testicles do not develop normally, affected males may have low levels of the hormone testosterone beginning during puberty. A lack of this hormone can lead to breast development (gynecomastia), reduced facial and body hair, and an inability to father children (infertility). Compared with other men, adult males with Klinefelter syndrome have an increased risk of developing breast cancer and a chronic inflammatory disease called systemic lupus erythematosus. Their chance of developing these disorders is similar to that of normal adult females.
Boys with Klinefelter syndrome may have learning disabilities and difficulty with speech and language development. They tend to be quiet, sensitive, and unassertive, but personality characteristics vary among males with this condition.
Variants of Klinefelter syndrome, which involve more than one extra X chromosome or extra copies of both the X and Y chromosomes in each cell, tend to have more severe signs and symptoms. These disorders affect male sexual development and are associated with decreased IQ, distinctive facial features, skeletal abnormalities, poor coordination, and severe problems with speech.
How common is Klinefelter syndrome?
Klinefelter syndrome affects 1 in 500 to 1,000 males. Variants of Klinefelter syndrome are much rarer, occurring in 1 in 50,000 or fewer male births. Females are not affected by Klinefelter syndrome
Initial treatment
Treatment for Klinefelter syndrome usually starts when a boy is about 11 to 12 years old. It begins with measuring the amount of testosterone and other hormones in his blood. Many teenage boys with Klinefelter syndrome don't have low levels of testosterone.4 If a boy's testosterone level is low, he is given a man-made form of testosterone (Depo-Testosterone) on a regular basis. Testosterone can be given as an injection or through a skin patch or gel.
Testosterone:
Increases body hair, mainly on the face (beard), under the arm (axillary), and in the genital area (pubic).
Increases muscle development.
Increases sex drive.
Helps prevent osteoporosis.
May prevent or shrink enlarged breasts.
Provides better self-esteem by allowing the boy to "fit in" with his peers. This can result in more successful interpersonal relationships.
Side effects of testosterone replacement therapy are uncommon, but include worsening acne, overly rapid sexual development, and behavior problems (such as being overly aggressive). Careful monitoring is important to prevent these side effects.
Ongoing treatment
Ongoing treatment forKlinefelter syndrome may include:
Help for language and learning difficulties. If language delays are identified in early childhood, educational assistance and speech therapy can be used to treat the problem. Children with learning difficulties can receive educational support through the school system.
Testosterone replacement. This is given by injection or through a skin patch or gel. Testosterone replacement usually continues throughout the man's life but does not help infertility. For men who want to start a family, counseling and treatment at a fertility clinic are generally recommended.
Regular medical checkups to monitor for development of other conditions, such as autoimmune diseases, behavior problems, or psychiatric disorders, such as depression. Professional counseling or medication may be needed.
DEPO-TESTOSTERONE from Pfizer
Klinefelter syndrome is a chromosomal condition that affects male sexual development. Most males with Klinefelter syndrome have one extra copy of the X chromosome in each cell. Because their testicles do not develop normally, affected males may have low levels of the hormone testosterone beginning during puberty. A lack of this hormone can lead to breast development (gynecomastia), reduced facial and body hair, and an inability to father children (infertility). Compared with other men, adult males with Klinefelter syndrome have an increased risk of developing breast cancer and a chronic inflammatory disease called systemic lupus erythematosus. Their chance of developing these disorders is similar to that of normal adult females.
Boys with Klinefelter syndrome may have learning disabilities and difficulty with speech and language development. They tend to be quiet, sensitive, and unassertive, but personality characteristics vary among males with this condition.
Variants of Klinefelter syndrome, which involve more than one extra X chromosome or extra copies of both the X and Y chromosomes in each cell, tend to have more severe signs and symptoms. These disorders affect male sexual development and are associated with decreased IQ, distinctive facial features, skeletal abnormalities, poor coordination, and severe problems with speech.
How common is Klinefelter syndrome?
Klinefelter syndrome affects 1 in 500 to 1,000 males. Variants of Klinefelter syndrome are much rarer, occurring in 1 in 50,000 or fewer male births. Females are not affected by Klinefelter syndrome
Initial treatment
Treatment for Klinefelter syndrome usually starts when a boy is about 11 to 12 years old. It begins with measuring the amount of testosterone and other hormones in his blood. Many teenage boys with Klinefelter syndrome don't have low levels of testosterone.4 If a boy's testosterone level is low, he is given a man-made form of testosterone (Depo-Testosterone) on a regular basis. Testosterone can be given as an injection or through a skin patch or gel.
Testosterone:
Increases body hair, mainly on the face (beard), under the arm (axillary), and in the genital area (pubic).
Increases muscle development.
Increases sex drive.
Helps prevent osteoporosis.
May prevent or shrink enlarged breasts.
Provides better self-esteem by allowing the boy to "fit in" with his peers. This can result in more successful interpersonal relationships.
Side effects of testosterone replacement therapy are uncommon, but include worsening acne, overly rapid sexual development, and behavior problems (such as being overly aggressive). Careful monitoring is important to prevent these side effects.
Ongoing treatment
Ongoing treatment forKlinefelter syndrome may include:
Help for language and learning difficulties. If language delays are identified in early childhood, educational assistance and speech therapy can be used to treat the problem. Children with learning difficulties can receive educational support through the school system.
Testosterone replacement. This is given by injection or through a skin patch or gel. Testosterone replacement usually continues throughout the man's life but does not help infertility. For men who want to start a family, counseling and treatment at a fertility clinic are generally recommended.
Regular medical checkups to monitor for development of other conditions, such as autoimmune diseases, behavior problems, or psychiatric disorders, such as depression. Professional counseling or medication may be needed.
DEPO-TESTOSTERONE from Pfizer
Treatment of genetic diseases: in the real world. 3. Turner syndrome
What is Turner syndrome?
Turner syndrome is a chromosomal condition that alters development in females. Women with this condition tend to be shorter than average and are usually unable to conceive a child (infertile) because of an absence of ovarian function. Other features of this condition that can vary among women who have Turner syndrome include: extra skin on the neck (webbed neck), puffiness or swelling (lymphedema) of the hands and feet, skeletal abnormalities, heart defects and kidney problems.
This condition occurs in about 1 in 2,500 female births worldwide, but is much more common among pregnancies that do not survive to term (miscarriages and stillbirths).
Turner syndrome is a chromosomal condition related to the X chromosome. Researchers have not yet determined which genes on the X chromosome are responsible for most signs and symptoms of Turner syndrome. They have, however, identified one gene called SHOX that is important for bone development and growth. Missing one copy of this gene likely causes short stature and skeletal abnormalities in women with Turner syndrome.
What is the treatment for Turner syndrome?
During childhood and adolescence, girls may be under the care of a pediatric endocrinologist, who is a specialist in childhood conditions of the hormones and metabolism.
Growth hormone injections are beneficial in some individuals with Turner syndrome. Injections often begin in early childhood and may increase final adult height by a few inches.
Estrogen replacement therapy is usually started at the time of normal puberty, around 12 years to start breast development. Estrogen and progesterone are given a little later to begin a monthly 'period,' which is necessary to keep the womb healthy. Estrogen is also given to prevent osteoporosis.
Babies born with a heart murmur or narrowing of the aorta may need surgery to correct the problem. A heart expert (cardiologist) will assess and follow up any treatment necessary.
Girls who have Turner syndrome are more likely to get middle ear infections. Repeated infections may lead to hearing loss and should be evaluated by the pediatrician. An ear, nose and throat specialist (ENT) may be involved in caring for this health issue.
High blood pressure is quite common in women who have Turner syndrome. In some cases, the elevated blood pressure is due to narrowing of the aorta or a kidney abnormality. However, most of the time, no specific cause for the elevation is identified. Blood pressure should be checked routinely and, if necessary, treated with medication. Women who have Turner syndrome have a slightly higher risk of having an under active thyroid or developing diabetes. This should also be monitored during routine health maintenance visits and treated if necessary.
Regular health checks are very important. Special clinics for the care of girls and women who have Turner syndrome are available in some areas, with access to a variety of specialists. Early preventive care and treatment is very important.
Almost all women are infertile, but pregnancy with donor embryos may be possible.
Drug used for Turner syndrome patients
Estrogen to increase height, produce secondary sexual charactristics, prevent osteoporois, improve fertility in some cases.
Premarin conjugated estrogen from Wyeth
Growth hormone to increase height.
Humatrope recombinant Human Growth Hormone from EliLily
Thyroid hormone in patients with hypothyroids
Eltroxin T4 Tetrathyroiodine from Glaxo Welcome
Turner syndrome is a chromosomal condition that alters development in females. Women with this condition tend to be shorter than average and are usually unable to conceive a child (infertile) because of an absence of ovarian function. Other features of this condition that can vary among women who have Turner syndrome include: extra skin on the neck (webbed neck), puffiness or swelling (lymphedema) of the hands and feet, skeletal abnormalities, heart defects and kidney problems.
This condition occurs in about 1 in 2,500 female births worldwide, but is much more common among pregnancies that do not survive to term (miscarriages and stillbirths).
Turner syndrome is a chromosomal condition related to the X chromosome. Researchers have not yet determined which genes on the X chromosome are responsible for most signs and symptoms of Turner syndrome. They have, however, identified one gene called SHOX that is important for bone development and growth. Missing one copy of this gene likely causes short stature and skeletal abnormalities in women with Turner syndrome.
What is the treatment for Turner syndrome?
During childhood and adolescence, girls may be under the care of a pediatric endocrinologist, who is a specialist in childhood conditions of the hormones and metabolism.
Growth hormone injections are beneficial in some individuals with Turner syndrome. Injections often begin in early childhood and may increase final adult height by a few inches.
Estrogen replacement therapy is usually started at the time of normal puberty, around 12 years to start breast development. Estrogen and progesterone are given a little later to begin a monthly 'period,' which is necessary to keep the womb healthy. Estrogen is also given to prevent osteoporosis.
Babies born with a heart murmur or narrowing of the aorta may need surgery to correct the problem. A heart expert (cardiologist) will assess and follow up any treatment necessary.
Girls who have Turner syndrome are more likely to get middle ear infections. Repeated infections may lead to hearing loss and should be evaluated by the pediatrician. An ear, nose and throat specialist (ENT) may be involved in caring for this health issue.
High blood pressure is quite common in women who have Turner syndrome. In some cases, the elevated blood pressure is due to narrowing of the aorta or a kidney abnormality. However, most of the time, no specific cause for the elevation is identified. Blood pressure should be checked routinely and, if necessary, treated with medication. Women who have Turner syndrome have a slightly higher risk of having an under active thyroid or developing diabetes. This should also be monitored during routine health maintenance visits and treated if necessary.
Regular health checks are very important. Special clinics for the care of girls and women who have Turner syndrome are available in some areas, with access to a variety of specialists. Early preventive care and treatment is very important.
Almost all women are infertile, but pregnancy with donor embryos may be possible.
Drug used for Turner syndrome patients
Estrogen to increase height, produce secondary sexual charactristics, prevent osteoporois, improve fertility in some cases.
Premarin conjugated estrogen from Wyeth
Growth hormone to increase height.
Humatrope recombinant Human Growth Hormone from EliLily
Thyroid hormone in patients with hypothyroids
Eltroxin T4 Tetrathyroiodine from Glaxo Welcome
Treatment of genetic diseases: in the real world. 2. Hemophilia
Hemophilia is an inherited bleeding disorders that was record since the ancient time.
The male new born has to be circumscribed for religious purpose, the affected individuals can be bleed until dead leading to exception for families with history of bleeding in male.
The most famous family with hemophilia is the Queen victorian royal family; there are many male suffered from this kind of severe bleeding disorders.
Once upon a time, those affected individulas died in before 10 years olf from sever intracranila bleeding. Nowadays, we know that these patients are lacking of clotting factor in their blood. Two common types of disease lack from differnet factor: factor 8 in hemophilia A and factor 9 in hemophilia B. These factors are found in normal individual plasma and that can be collected, concentrate and given to patiens in need. from the advance of genetic engineering, we can synthesized factor 8 or 9 with recombinant technology to produce large amount of factors independently for blood donors anymore, but they are still expensive and restricted for use in the most severe one.
These are the list of saving life products for hemophiliac patients:
Fresh Frozen Plasma
Cryoprecipitated (factor 8 rich)
Cryoremoved plasma (factor 9 rich)
Factor 7 recombinant: Novoseven from Novo Nordisk (can be used in both types)
Factor 8 recombinant: Advate from baxter, Helixate from Behring
Factor 9 recombinant: BeneFIX from Wyeth
Anti-Inhibitor Coagulant Complex FEIBA from Baxter (can be used in both types)
In mild hemophilia A or hemophiliac patients undegoing to perform oral procedure: transamin (tranexamic acid) from Daiichi
The male new born has to be circumscribed for religious purpose, the affected individuals can be bleed until dead leading to exception for families with history of bleeding in male.
The most famous family with hemophilia is the Queen victorian royal family; there are many male suffered from this kind of severe bleeding disorders.
Once upon a time, those affected individulas died in before 10 years olf from sever intracranila bleeding. Nowadays, we know that these patients are lacking of clotting factor in their blood. Two common types of disease lack from differnet factor: factor 8 in hemophilia A and factor 9 in hemophilia B. These factors are found in normal individual plasma and that can be collected, concentrate and given to patiens in need. from the advance of genetic engineering, we can synthesized factor 8 or 9 with recombinant technology to produce large amount of factors independently for blood donors anymore, but they are still expensive and restricted for use in the most severe one.
These are the list of saving life products for hemophiliac patients:
Fresh Frozen Plasma
Cryoprecipitated (factor 8 rich)
Cryoremoved plasma (factor 9 rich)
Factor 8 concentrate plasma
Factor 9 concentrate plasma
Factor 7 recombinant: Novoseven from Novo Nordisk (can be used in both types)
Factor 8 recombinant: Advate from baxter, Helixate from Behring
Factor 9 recombinant: BeneFIX from Wyeth
Anti-Inhibitor Coagulant Complex FEIBA from Baxter (can be used in both types)
In mild hemophilia A or hemophiliac patients undegoing to perform oral procedure: transamin (tranexamic acid) from Daiichi
Treatment of genetic diseases: in the real world. 1. familial hypercholesterolemia
One of the most common misunderstanding or negative attitudes towards genetic diseases is Genetic diseases can not be treated. They may sometimes hear about gene therapy, cloning or other advanced knowledge requirement to understand, so they leave genetics at the corner of their mind. But what do genetics doctors say?
I have to say that there are thousands of genetic diseases (and this long list is growing rapidly) that are treated or can be prevented with drugs, diet therapy, or surgical procedures effectively.
For emphasizing this promising areas of medicine, I will list these genetic diseases and their management that change their hopeless life to the bright new one.
The first one I'd like to mention is familial hypercholesterolemia.
Familial hypercholesterolemia
Familial hypercholesterolemia is one of the most common genetic diseases in the world; the prevalence of heterozygous (get one abnormal gene from only one parent) affected people is about 1 in 500, which equal to prevalence of stroke in England.
Affected people have consistenly high levels of low density lipoprotein (LDL or bad cholesterol) which leads to premature atherosclerosis of the coronary arteries, cerebral arteries and peripheral vessels. Typically in affected men, heart attacks occur in their 40s to 50s, and 85% of men with this disorder have experienced a heart attack by age 60. The incidence of heart attacks in women with this disorder is also increased, but happens 10 years later than in men.
In homozygous (receive abnormal genes from both parents) individuals the condition is more severe, and cholesterol values may exceed 600 mg/dl (normal not exceed 200 mg/dl) These individuals develop waxy plaques (xanthoma) beneath the skin over their elbows, knees, buttocks. These are deposits of cholesterol in the skin. In addition, they develop deposits in tendons, and around the cornea of the eye. atherosclerosis begins before pubery and heart attacks and death may occur before age30, or they may require higly invasive surgery such as a liver transplant. Fortunately homozygous individulas are extremely rare in about 1 in million.
Hetrozygous patients may respond well to diet modifications combined with strong lipid lowering agents which have a class name statins.
Statins are the most common and one of the most prescribed drugs nowadays for treatment of high blood cholesterol. Most of high blood cholesterol individuals are partially inherited, but not in the case of familial hypercholesterolmeia which transfer to the next generation at rate about 50 %.
There are many guidelines for managing affected individulas.
Statins provides excellent control of inherited high cholestrol levels. The statins work by reducing the manufacture of cholestrol by cells. This stimulated LDL receptor gene expression. As a result, the receptors produced by the normal gene wil reduce cholesterol levels. the effect of statins can be enhanced by bile acid sequestants or cholesterol absorption inhibitors such as plant sterols or the recently introduced drug, ezetimibe.
Many patients with FH can achieve target cholesterol levels.
STATIN TREATMENT OF FH MALES IS ONE OF HE MOST COST_EFFECTIVE MEDICAL INTERVENTIONS AVAILABLE AND SEVERAL LINE OF EVIDENCE POINT TOWARDS MAJOR IMPROVEMENTS IN CARDIOVASCULAR EVENT RATES AND TOTAL MORTALITY(DEAD) OF FH PATIENTS.
These are the names of drugs can be used for Familail Hypercholesterolemia:
Lipitor from Pfizer : Atorvastatin
Crestor from Aventis: Rosuvastatin
high dose Zocor from Merck: simvastatin
Ezetrol from Merck: ezetimibe in combination with Zocor
I have to say that there are thousands of genetic diseases (and this long list is growing rapidly) that are treated or can be prevented with drugs, diet therapy, or surgical procedures effectively.
For emphasizing this promising areas of medicine, I will list these genetic diseases and their management that change their hopeless life to the bright new one.
The first one I'd like to mention is familial hypercholesterolemia.
Familial hypercholesterolemia
Familial hypercholesterolemia is one of the most common genetic diseases in the world; the prevalence of heterozygous (get one abnormal gene from only one parent) affected people is about 1 in 500, which equal to prevalence of stroke in England.
Affected people have consistenly high levels of low density lipoprotein (LDL or bad cholesterol) which leads to premature atherosclerosis of the coronary arteries, cerebral arteries and peripheral vessels. Typically in affected men, heart attacks occur in their 40s to 50s, and 85% of men with this disorder have experienced a heart attack by age 60. The incidence of heart attacks in women with this disorder is also increased, but happens 10 years later than in men.
In homozygous (receive abnormal genes from both parents) individuals the condition is more severe, and cholesterol values may exceed 600 mg/dl (normal not exceed 200 mg/dl) These individuals develop waxy plaques (xanthoma) beneath the skin over their elbows, knees, buttocks. These are deposits of cholesterol in the skin. In addition, they develop deposits in tendons, and around the cornea of the eye. atherosclerosis begins before pubery and heart attacks and death may occur before age30, or they may require higly invasive surgery such as a liver transplant. Fortunately homozygous individulas are extremely rare in about 1 in million.
Hetrozygous patients may respond well to diet modifications combined with strong lipid lowering agents which have a class name statins.
Statins are the most common and one of the most prescribed drugs nowadays for treatment of high blood cholesterol. Most of high blood cholesterol individuals are partially inherited, but not in the case of familial hypercholesterolmeia which transfer to the next generation at rate about 50 %.
There are many guidelines for managing affected individulas.
Statins provides excellent control of inherited high cholestrol levels. The statins work by reducing the manufacture of cholestrol by cells. This stimulated LDL receptor gene expression. As a result, the receptors produced by the normal gene wil reduce cholesterol levels. the effect of statins can be enhanced by bile acid sequestants or cholesterol absorption inhibitors such as plant sterols or the recently introduced drug, ezetimibe.
Many patients with FH can achieve target cholesterol levels.
STATIN TREATMENT OF FH MALES IS ONE OF HE MOST COST_EFFECTIVE MEDICAL INTERVENTIONS AVAILABLE AND SEVERAL LINE OF EVIDENCE POINT TOWARDS MAJOR IMPROVEMENTS IN CARDIOVASCULAR EVENT RATES AND TOTAL MORTALITY(DEAD) OF FH PATIENTS.
These are the names of drugs can be used for Familail Hypercholesterolemia:
Lipitor from Pfizer : Atorvastatin
Crestor from Aventis: Rosuvastatin
high dose Zocor from Merck: simvastatin
Ezetrol from Merck: ezetimibe in combination with Zocor
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