Barakat syndrome, also known as HDR syndrome, was first described by Barakat et al in 1977and is an inherited condition characterized by hypoparathyroidism, sensorineural deafnessand renal disease. Patients usually present with hypocalcaemia, tetany, or afebrile convulsionsat any age. Hearing loss is usually bilateral and may range from mild to profound impairment. Renal disease includes nephrotic syndrome, cystic kidney, renal dysplasia, hypoplasiaor aplasia, pevicalyceal deformity, vesicoureteral reflux, chronic renal failure, hematuria, proteinuriaand renal scarring. The frequency is unknown, but the disease is considered to be very rare.
The defect is on chromosome10p (Gene Map Locus: 10p15, 10p15.1-p14), with haploinsufficiencyor mutation of the GATA3 genebeing the underlying cause. Inheritance is probably autosomal dominant. A thorough diagnosis should be performed 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 prenatallywith a chromosome10p defect, and those who have been diagnosed with well defined phenotypesof renal tract abnormalities. Management consists of treating the clinical abnormalities at the time of presentation. Prognosisdepends on the severity of the renal disease.
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- Online Mendelian Inheritance in Man, Johns Hopkins University #146255.
- Hasegawa,T, Hasegawa, Y, Aso, T.; Koto, S, Nagai, T, Tsuchiya, Y, Kim, K, Ohashi, H, Wakui, K, Fukushima, Y. HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) associated with del(10)(p13). Am J Med Genet 1997; 73: 416-8.
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- Zahirieh A, Nesbit AM, Ali A, Wang K, He N, Stangou M, Bamichas G, Sombolos, K, Thakker RV, Pei Y. Functional analysis of a vovel GATA3 mutation in a family with the hypoparathyroidism, deaness and renal dysplasia (HDR) syndrome. J Clin Endocrinol Metab 2005; 4: 2445-50.
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It uses material from the http://en.wikipedia.org/wiki/Barakat+syndrome Wikipedia article Barakat syndrome.