An introduction to the medical genetic condition down syndrome

Heredity of phenotypic traits: Father and son with prominent ears and crowns.

An introduction to the medical genetic condition down syndrome

Synonyms of Atypical Hemolytic Uremic Syndrome aHUS hereditary hemolytic-uremic syndrome General Discussion Atypical hemolytic uremic syndrome aHUS is an extremely rare disease characterized by low levels of circulating red blood cells due to their destruction hemolytic anemialow platelet count thrombocytopenia due to their consumption and inability of the kidneys to process waste products from the blood and excrete them into the urine acute kidney failurea condition known as uremia.

It is a distinctly different illness from the more common disorder known as typical hemolytic uremic syndrome, which is caused by E. Most cases of aHUS are genetic, although some may be acquired due to autoantibodies or occur for unknown reasons idiopathic. Unlike individuals with typical HUS, who usually recover from the life-threatening initial episode and usually respond well to supportive treatment, individuals with aHUS are much more likely to develop chronic serious complications such as severe high blood pressure hypertension and kidney renal failure.

An introduction to the medical genetic condition down syndrome

The signs and symptoms of aHUS result from the formation of tiny blood clots microthrombi in various small blood vessels of the body. These clots reduce or prevent proper blood flow to various organs of the body, especially the kidneys.

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Introduction The nomenclature and terminology surrounding this disorder can be confusing. TMA is broken down into two main forms — thrombotic thrombocytopenia purpura and hemolytic uremic syndrome.

This excludes instances of secondary HUS, in which hemolytic uremic syndrome occurs as a secondary finding of a different disorder or condition. Causes of secondary HUS include malignancy, HIV infection, solid organ transplants, hematopoietic stem cell transplants, autoimmune disorders and the use of certain drugs or medications.

In young children, the disorder often develops suddenly and usually follows an infection, particularly an upper respiratory infection or gastroenteritis. When it follows an episode of gastroenteritis it can more easily be confused with Stx HUS which almost always is preceded by diarrhea.

The disease has different causes and can be unpredictable in how it will progress in one individual as opposed to another.

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Many affected individuals present with vague feelings of illness, fatigue, irritability, and lethargy that can potentially lead to hospitalization.

The early phases may be difficult to diagnose, and the condition tends to be progressive. Because complications and relapse are common, it is critical that aHUS be recognized at this stage.

The three main findings of aHUS are hemolytic anemia, thrombocytopenia, and acute kidney failure. Although most affected individuals develop these three conditions, some individuals will not. Hemolytic anemia is a condition in which there is a premature destruction hemolysis of red blood cells.

Thrombocytopenia is a condition in which there are low levels of platelets, a blood cell that is involved in clotting.

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Kidney disease can be mild or severe. Kidney damage tends to worsen with each subsequent episode. Blood and protein in the urine hematuria and proteinuriafrequent indicators of kidney disease, are common, especially during acute episodes.

Kidney disease is progressive and can potentially progress to cause end stage renal failure, necessitating chronic dialysis or a kidney transplant. High blood pressure hypertension is common and can result from kidney disease or because of lack of blood flow ischemia due to the formation small blood clots microthrombi.

Hypertension can be severe and may be associated with headaches and seizures. Because small blood clots can potentially form in blood vessels serving other organs of the body, organ damage and failure can occur elsewhere besides the kidneys which is the organ that is most commonly affected.

The brain, gastrointestinal tract, liver, lungs, and heart can also be affected. Specific symptoms can vary based upon the specific organ system involved.

Cardiovascular complications can include disease of the heart muscle cardiomyopathy or heart attack myocardial infarction. Neurological complications can include headaches, double vision diplopiairritability, drowsiness, facial paralysis, seizures, transient ischemic attacks, stroke, and coma.

Gastrointestinal bleeding may also occur.Down Syndrome Essay Examples. 45 total results. An Introduction to the Medical Genetic Condition Down Syndrome.

2, words. 6 pages. The Challenges of Coping With Down Syndrome. 3, words. 9 pages. An Introduction to the Issue of down Syndrome in the United States. words. 2 pages. This Clinical Focus provides information relating to prenatal screening and diagnosis of neural tube defects, Down syndrome, trisomy 18, and trisomy It includes information about individuals suitable for testing, available tests, and test selection and interpretation for screening and diagnostic tests.

Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary monstermanfilm.coml genetics differs from human genetics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care.

For example, research on the causes and inheritance of genetic. Introduction to Down’s Syndrome Compiled by Claire Fisher, with contributions by the parents of WDDSSG Down’s syndrome is a genetic condition.

The National Institutes of Health sponsored a multi-center prospective study (the First and Second Trimester Evaluation of Aneuploidy Risk or 'FASTER' trial) that compared first- and second-trimester non-invasive methods of screening for fetal aneuploidies with second trimester multiple marker maternal serum screening that is the current standard of care (NICHD, ).

Footnotes * Medically necessary if results of the adrenocortical profile following cosyntropin stimulation test are equivocal or for purposes of genetic counseling.. Footnotes ** Electrophoresis is the appropriate initial laboratory test for individuals judged to be at-risk for a hemoglobin disorder..

In the absence of specific information regarding advances in the knowledge of mutation.

Down syndrome - Wikipedia