Barakat syndrome

Jump to navigation Jump to search

WikiDoc Resources for Barakat syndrome

Articles

Most recent articles on Barakat syndrome

Most cited articles on Barakat syndrome

Review articles on Barakat syndrome

Articles on Barakat syndrome in N Eng J Med, Lancet, BMJ

Media

Powerpoint slides on Barakat syndrome

Images of Barakat syndrome

Photos of Barakat syndrome

Podcasts & MP3s on Barakat syndrome

Videos on Barakat syndrome

Evidence Based Medicine

Cochrane Collaboration on Barakat syndrome

Bandolier on Barakat syndrome

TRIP on Barakat syndrome

Clinical Trials

Ongoing Trials on Barakat syndrome at Clinical Trials.gov

Trial results on Barakat syndrome

Clinical Trials on Barakat syndrome at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on Barakat syndrome

NICE Guidance on Barakat syndrome

NHS PRODIGY Guidance

FDA on Barakat syndrome

CDC on Barakat syndrome

Books

Books on Barakat syndrome

News

Barakat syndrome in the news

Be alerted to news on Barakat syndrome

News trends on Barakat syndrome

Commentary

Blogs on Barakat syndrome

Definitions

Definitions of Barakat syndrome

Patient Resources / Community

Patient resources on Barakat syndrome

Discussion groups on Barakat syndrome

Patient Handouts on Barakat syndrome

Directions to Hospitals Treating Barakat syndrome

Risk calculators and risk factors for Barakat syndrome

Healthcare Provider Resources

Symptoms of Barakat syndrome

Causes & Risk Factors for Barakat syndrome

Diagnostic studies for Barakat syndrome

Treatment of Barakat syndrome

Continuing Medical Education (CME)

CME Programs on Barakat syndrome

International

Barakat syndrome en Espanol

Barakat syndrome en Francais

Business

Barakat syndrome in the Marketplace

Patents on Barakat syndrome

Experimental / Informatics

List of terms related to Barakat syndrome


Barakat syndrome, also known as HDR syndrome, was first described by Barakat et al in 1977 and is an inherited condition characterized by hypoparathyroidism, sensorineural deafness and renal disease. Patients usually present with hypocalcaemia, tetany, or afebrile convulsions at any age. Hearing loss is usually bilateral and may range from mild to profound impairment. 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 (Gene Map Locus: 10p15, 10p15.1-p14), with haploinsufficiency or mutation of the GATA3 gene being 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 prenatally with a chromosome 10p defect, and those who have been diagnosed with well defined phenotypes of renal tract abnormalities. Management consists of treating the clinical abnormalities at the time of presentation. Prognosis depends on the severity of the renal disease.

References

  1. Barakat, AY, D'Albora, JB, Martin, MM, Jose, PA. Familial nephrosis, nerve deafness, and hypoparathyroidism. J. Pediat 1977; 91: 61-4.
  2. Bilous, RW, Murty, G, Parkinson, DB, Thakker, RV, Coulthard, MG, Burn, J, Mathias, D, Kendall-Taylor, P. Brief report: Autosomal dominant familial hypoparathyroidism, sensorineural deafness, and renal dysplasia. New Eng J Med 1992; 327: 1069-74.
  3. Online Mendelian Inheritance in Man, Johns Hopkins University #146255.
  4. 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.
  5. Nesbit MA, Bowl MR, Harding B, Ali A, Ayala A, Crowe C, Dobbie A, Hampson G, Holdaway I, Levine MA, McWilliams R, Rigden S, Sampson J, Williams AJ, Thakker RV. Characterization of GATA3 mutations in the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome. J Biol Chem 2004; 279: 22624-34.
  6. 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.

External links


Template:WikiDoc Sources Template:Jb1