Complete Information on Barakat Syndrome

By: Juliet Cohen

Barakat syndrome, also known as HDR syndrome. Barakat syndrome (medical condition) is characterized by deafness, kidney disease and insufficiency parathyroid hormone production. Symptoms of Barakat syndrome include deafness, hypoparathyroidism ,nephrosis , kidney failure and dry skin. Renal disease includes nephrotic syndrome, cystic kidney, renal dysplasia, hypoplasia or aplasia, pevicalyceal deformity, vesicoureteral reflux, chronic renal failure, hematuria, proteinuria and renal scarring.

The frequency is unknown, but the disease is considered to be very rare.

The defect is on chromosome 10p , with haploinsufficiency or mutation of the GATA3 gene being the underlying cause. A thorough diagnosis should be achieved on every affected individual, and siblings should be studied for deafness, parathyroid and renal disease. The syndrome should be considered in infants who have been diagnosed prenatally with a chromosome 10p defect, and those who have been diagnosed with well defined phenotypes of renal tract abnormalities.

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