{"title":"Barakat syndrome.","authors":"Beáta Arciniegas Berkešová, Zoltán Borbély","doi":"10.36290/vnl.2023.036","DOIUrl":null,"url":null,"abstract":"<p><p>Barakat syndrome, also known as HDR syndrome, is a clinically heterogenous, autosomal dominant rare genetic disease, which frequency is unknown. It is primarily caused by deletion of chromosome 10p14 or mutation of GATA3 gene, located on chromosome 10. Although this syndrome is phenotypically defined by its triad of HDR: hypoparathyroidism (H), deafness (D), renal disease (R), the literature identifies cases with different components, consisting of HD, DR, HR (1). The syndrome was first described by Amin J. Barakat et al. in 1977 in siblings with hypocalcemia and proteinuria (2). So far, about 180 cases have been reported in the worldwide medical literature (3). In this report we present our own case report of patient with Barakat syndrome with hypoparathyrodism, unilateral deafness and renal impairment.</p>","PeriodicalId":23501,"journal":{"name":"Vnitrni lekarstvi","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Vnitrni lekarstvi","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.36290/vnl.2023.036","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 0
Abstract
Barakat syndrome, also known as HDR syndrome, is a clinically heterogenous, autosomal dominant rare genetic disease, which frequency is unknown. It is primarily caused by deletion of chromosome 10p14 or mutation of GATA3 gene, located on chromosome 10. Although this syndrome is phenotypically defined by its triad of HDR: hypoparathyroidism (H), deafness (D), renal disease (R), the literature identifies cases with different components, consisting of HD, DR, HR (1). The syndrome was first described by Amin J. Barakat et al. in 1977 in siblings with hypocalcemia and proteinuria (2). So far, about 180 cases have been reported in the worldwide medical literature (3). In this report we present our own case report of patient with Barakat syndrome with hypoparathyrodism, unilateral deafness and renal impairment.
期刊介绍：
Vnitřní lékařství je tiskovým orgánem České internistické společnosti České lékařské společnosti Jana Evangelisty Purkyně a Slovenskej internistickej spoločnosti Slovenskej lekárskej spoločnosti. Je vydáván nepřetržitě od roku 1955. Časopis vychází jako měsíčník, tedy 12krát do roka a podle potřeby jsou v běžném ročníku vydávána jeho suplementa, která jsou obsahově zaměřena k určitému tématu. Tematicky je časopis zaměřen široce na oblast interní medicíny se zvláštní pozorností ke kardiologii, diabetologii a poruchám metabolizmu.
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