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Alport syndrome is a progressive genetic kidney disease characterized by haematuria, often associated with neurogenic deafness and visual changes. what are the causes and symptoms of Alport syndrome? How is the treatment going?

Alport syndromeis a genetic disease caused by disturbances in the structure of a structural component, the so-called type IV collegiate. Its incorrect form leads to damage to theof the glomeruli.

Alport syndrome - symptoms

The characteristics of this disease are:

  • occurrence of hematuria - in boys from birth
  • proteinuria
  • hypertension progressing with a decline in normal kidney function
  • hearing impairment
  • visual impairment
  • gradual bilateral neurogenic deafness, absent during infancy, but appearing at the latest around the age of 30 - initially, deafness affects higher tones

Alport team - diagnosis

The clinical observation of the patient is often not enough, therefore it is necessary to examine the tissue collected from the kidney. It is also possible to diagnose Alport syndrome by taking a skin section where the structure of type IV collagen is not correct. Diagnostic criteria (minimum 4 must be met):

  • hereditary occurrence of hematuria
  • diagnosed end-stage renal disease diagnosed in at least two family members
  • progressive deafness
  • trouble with eyesight
  • evidence of leiomyosis, abnormal size and number of platelets or abnormal structure of white blood cells
  • abnormalities in the structure of the tissue observed in the electron microscope
  • genetic mutations characteristic for this disease

Alport syndrome - treatment

Symptomatic treatment is recommended - combating proteinuria, arterial hypertension and hematuria. In the advanced stage of this disease, the so-called renal replacement therapy, e.g. dialysis. Kidney transplantation may also be considered.

Important

People who are not ill, but who have Alport syndrome in their family, must be aware that they have a genetic burden. The risks vary. Depends on whether or not an irregularitygenetic is found in both parents, or only in the father or mother. Men with Alport syndrome can pass on a genetic disorder to their daughters - who themselves are he althy carriers of the defect - and the disease can spread to future generations. He althy mothers can pass on a defect to their sons that will make them sick. When the genetic defect is passed on to the daughter - similarly to the above, she becomes an asymptomatic carrier.

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Category:

Genetic diseases