Alport syndrome ? Healthy Knowledge

Do you know about Alport Syndrome? Alport syndrome is a hereditary disease that is very serious and very progressive kidney characterized by renal and extrarenal symptoms. The development and evolution of the disease that often leads to terminal kidney failure. It has been estimated that this disease is Alport syndrome is responsible for about 1 to 2% of all cases of end-stage renal disease, and that approximately 1 in 5000 people will be affected. This is very dangerous for US !!

Maybe you will ask, who the founder Alport syndrome? Alport syndrome owes its name to the doctor Cecil A. Alport who, in 1927, he published a study on individuals belonging to three generations of the same family, whom had progressive renal insufficiency and hearing loss of perceptive type. This study shows that the most obvious symptom of the disease was the presence of blood in the urine (haematuria) and how the disease occurs with greater severity in male individuals. Dr. Alport subsequently studied several other individuals who had the same symptoms, in 1961 the disease became known as Alport syndrome.
Forms and methods of transmission of Alport syndrome

There are different forms of S. Alport.
A first classification is based on age in which it appears renal failure:

-> Juvenile Alport syndrome - kidney failure appears within 30 years of life. And 'the most common form;

-> Adult Alport syndrome - the failure occurs after 30 years of life.

A second classification is based on the mode of genetic transmission of the disease:

-> X-linked Alport syndrome (XLAS). Represents about 85% of cases of Alport syndrome and presents a mode of genetic transmission linked to chromosome X. It is due to a mutation in the protein chain collagen alfa5 belonging to collagen IV (COLA5). In this case, the disease presents itself differently depending on the sex of the individual who is affected. Individuals female carriers of the mutation are in fact two X chromosomes, one mutated and one healthy and the healthy normal X chromosome compensates for the effects of the mutation contained in the X chromosome ill. They, therefore, in 80% of cases are healthy carriers of the mutation or have mild symptoms (dall'ematuria to deafness). In the remaining 20% of cases occur rather chronic renal failure, usually in adulthood. An individual female suffering from XLAS has, for each pregnancy, 50% probability of transmitting the mutation to their offspring. The male individuals carry the mutation have all the symptoms of XLAS, not having a healthy X chromosome to compensate the change (they have two X chromosomes but one X chromosome and one Y chromosome). A male individual suffering from XLAS transmit the disease to offspring of women (who inherits the mutated X chromosome) but not for male offspring (which inherits the Y chromosome healthy). autosomal dominant Alport syndrome (ADAS) and autosomal recessive Alport syndrome (ARAS). Are more rare forms of the disease, affecting both individuals who are men than women. Are due to mutations in the protein chain collagen alfa3 and alfa4 belonging to collagen IV (COL4A3 and COL4A4 gene).

Symptoms : Renal Symptoms
The symptom is the primary renal hematuria (small amount of blood in the urine, detectable only by microscopic examination) with possible episodes of macrohaematuria (amount of visible blood in the urine) usually associated with flu or fever. With the passage of time (usually in adolescence) is manifested proteinuria (protein in urine) and elevated blood pressure. The most important symptom impairment, however, is by progressive fibrosis of the kidney structures (glomeruli and tubules), which gradually evolves in CKD.
Inner ear and eyes. About 80% of male individuals and 57% of those women, usually teenage and before the onset of renal failure have nerve deafness that is accentuated with age. Approximately 72% of male individuals and 38% of those women have lesions in the retina and lens (anterior lenticonus, cataracts, retinopathy, corneal erosion).
Symptoms Blood

Subjects with ADAS generally have thrombocytopenia (platelet deficiency).
Leiomyomatosis, Subjects with XLAS have rarely leiomyomatosis (benign tumors at the esophagus, trachea, bronchus and genital).
CAUSE, As noted, the cause of the disease is a defect in the synthesis of collagen chains alfa3, alfa4 (ADAS ARAS) and alfa5 (XLAS) belonging to a particular type of collagen (type IV), a major structural protein of the glomerular basement membrane impairment.

Diagnosis, The diagnosis of Alport syndrome is based on the finding of typical symptoms or renal (kidney biopsy through) that acoustic and eyes. In 80% of cases is now possible to study the DNA of the person affected to determine the exact mutation responsible for disease (direct analysis). The detection of the mutation, in turn, allows a possible pre-implantation genetic diagnosis and prenatal. In other cases, you can make a diagnosis instead cd. indirectly, by studying the DNA of individuals (sick and healthy) belonging to the same family.

Treatment, There is currently no cure for Alport syndrome. However, there are treatments to alleviate / delay the symptoms of the disease (hypoproteic diet, intake of antihypertensive drugs, artificial eyes and hearing, etc.).. The evolution of the disease in chronic renal failure results in the need for dialysis treatment and, possibly, the kidney transplant.

Please remember, Alport syndrome can not be prevented. So for all people i just want to say take care your healthy life,  !! (from web source)

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