Hyperkalemia unveiled: A case of Barakat syndrome

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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: ...

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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...

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Concomitant hypoparathyroidism, sensorineural deafness, and renal agenesis: a case of Barakat syndrome.

Barakat syndrome, also known as hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome is an extremely rare congenital disorder. Different etiologies are described for the syndrome but the definite pathophysiology remains unclear. Hereby, we present a case of Barakat syndrome who was diagnosed on the basis of clinical and molecular data.

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A 70-year-old patient with a history of hypertension and dyslipidemia was receiving treatment with enalapril, simvastatin, and hydrochlorothiazide. He was referred to our hospital for presyncope and suspected acute myocardial infarction in an anterior location. The first electrocardiogram (Fig. 1A) showed a saddlebag-type ST segment elevation in V1 to V3. Echocardiography excluded a segmental w...

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ژورنال

عنوان ژورنال: Indian Journal of Nephrology

سال: 2020

ISSN: 0971-4065

DOI: 10.4103/ijn.ijn_132_19