Barakat syndrome or HDR syndrome: Another association of kidney disease and deafness
نویسندگان
چکیده
منابع مشابه
Microcephaly, Deafness, and Renal Dysplasia: A Case of Barakat Syndrome
Background: Barakat syndrome is a rare autosomal dominant disorder characterized by hypoparathyroidism, sensorineural deafness, and renal disease, collectively known as HDR syndrome. This disease is caused by the mutation of GATA3 gene located on chromosome 10p15. GATA3 is involved in the embryonic development of kidneys, inner ears, parathyroid glands, and central nervous systems.Case report: ...
متن کاملSeizure, Deafness, and Renal Failure: A Case of Barakat Syndrome
Barakat syndrome (also known as HDR syndrome) is an autosomal dominant disorder characterized by hypoparathyroidism, sensorineural deafness, and renal disease caused by mutation of the GATA3 gene located at chromosome 10p15. The exact prevalence of this disorder is not known but is very rare, with only about a dozen cases reported in the literature. Here, we report a case of 58-year-old man fro...
متن کاملHDR Syndrome (Hypoparathyroidism, Sensorineural Deafness and Renal Disease) Accompanied by Hirschsprung Disease
BACKGROUND HDR syndrome (hypoparathyroidism, sensorineural deafness and renal disease) is an autosomal dominant condition, defined by the triad hypoparathyroidism, renal dysplasia and hearing loss. Hirschsprung (HSCR) disease is a variable congenital absence of ganglion cells of the enteric nervous system resulting in degrees of functional bowel obstruction. Rarer chromosomal anomalies are repo...
متن کامل[alport's Syndrome of Familial Kidney Disease with Deafness].
A Japanese family of an apparent familial kidney disease with hearing loss are presented. Reports of this syndrome have appeared under different descriptive titles in foreign countries, such as U.S.A., Canada, England, France, Germany, Italy and Israel, but no systemic report has yet been made in Japan. In 1962, the first case report of this syndrome of a family was made by Dr. Sato et al. of T...
متن کاملAdams Oliver Syndrome and Congenital Deafness
Admas-Oliver syndrome is a rare autosomal dominant disease of congenital development defects association with aplasia cutis. All of 81 reported cases were of 32 group families. These two cases had congenital scalp cutis aplasia with developmental defect and hypoplasia of left foot digits in case 1.Congenital deaf-mute in both can added to the past known findings in this syndrome. Thoracic defor...
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ژورنال
عنوان ژورنال: Nefrología (English Edition)
سال: 2016
ISSN: 2013-2514
DOI: 10.1016/j.nefroe.2015.04.006