General
Barakat syndrome (also HDR syndrome) is an extremely rare genetically determined disorder with a broad spectrum of manifestations. The cause is a genetic mutation located in a gene on chromosome 10. The frequency of occurrence is unknown; the syndrome is very rare. The inheritance pattern is likely autosomal dominant.
Diagnosis:
The diagnosis is established through genetic testing. Genetic testing should be considered for siblings of affected children and for patients with various abnormalities of the urinary tract.
Treatment:
Prevention or treatment of the syndrome itself is not possible. However, the symptoms of the syndrome can be treated — the main focus is to preserve kidney function for as long as possible. If kidney function is completely lost, dialysis or kidney transplantation is necessary.
- impairment of the urinary system and kidneys of varying severity, which may lead to renal insufficiency and failure — conditions such as nephrotic syndrome, multiple renal cysts, and vesicoureteral reflux may occur. In the most severe cases, the kidneys may fail to develop at all
- hypoparathyroidism (reduced function of the parathyroid glands) and the resulting disturbances in calcium metabolism; low calcium levels are present, manifesting as muscle cramps and tetany
- hearing impairment of varying degree
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