Barakat syndrome

Czech version

Authors: Beáta Arciniegas Berkešová ^1,2; Zoltán Borbély ^2,3
Authors‘ workplace: Endokrinologická ambulancia Kliniky vnútorného lekárstva II, FNsP Nové Zámky ¹; Klinika vnútorného lekárstva II, FNsP Nové Zámky ²; Nefrologická ambulancia Kliniky vnútorného lekárstva II, FNsP Nové Zámky ³
Published in: Vnitř Lék 2023; 69(E-3): 16-19
Category: Case reports
doi: https://doi.org/10.36290/vnl.2023.036

Overview

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.

Keywords:

deafness – hypocalcemia – Barakat syndrome – GATA3 – HDR syndrome – hypoparathyroidism – chromosome 10p – renal disease

Sources

1. Barakat AJ, Raygada M, Rennert OM. Barakat syndrome revisited. Am J Med Genet A. 2018 Jun;176(6):1341-1348. doi: 10.1002/ajmg.a.38693. Epub 2018 Apr 16. PMID: 29663634.

2. Barakat AJ, D’Albora JB, Martin MM, Jose PA. Familial nephrosis, nerve deafness, and hypoparathyroidism. J Pediatr. 1977 Jul;91(1):61-4. doi: 10.1016/s0022-3476(77)80445-9.PMID: 874665.

3. Hypoparathyroidism‑sensorineural deafness‑renal disease syndrome. Dostupné z www: <http://orpha.net>

4. Joseph ADD, Sirisena ND, Kumanan T, Sujanitha V, Strelow V, Yamamoto R, Wieczorek S, Dissanayake VHW. Hypoparathyroidism, Sensorineural deafness and renal disease (Barakat syndrome) caused by a reduced gene dosage in GATA3: a case report and review of literature. BMC Endocr Disord. 2019 Oct 28;19(1):111. doi: 10.1186/s12902-019-0438-4. PMID: 31660939; PMCID: PMC6816161.

5. Taslipinar A, Kebapcilar L, Kutlu M, Sahin M, Aydogdu A, Uckaya G, Azal O, Bolu E, Ibrahim Aydin H. HDR syndrome (hypoparathyroidism, sensorineural deafness and renal disease) accompanied by renal tubular acidosis and endocrine abnormalities. Intern Med. 2008;47(11):1003-7. doi: 10.2169/internalmedicine.47.0917. Epub 2008 Jun 2. PMID: 18520110.

6. Muroya K, Hasegawa T, Ito Y, Nagai T, Isotani H, Iwata Y, Yamamoto K, Fujimoto S, Seishu S, Fukushima Y, Hasegawa Y, Ogata T. GATA3 abnormalities and the phenotypic spectrum of HDR syndrome. J Med Genet. 2001 Jun;38(6):374-80. doi: 10.1136/jmg.38. 6. 374. PMID: 11389161; PMCID: PMC1734904.

7. Hasegawa T, Hasegawa Y, Aso T, Koto S, Nagai T, Tsuchiya Y, Kim KC, Ohashi H, Wakui K, Fukushima Y. HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) associated with del(10)(p13). Am J Med Genet. 1997 Dec 31;73(4):416-8. doi: 10.1002/(sici)1096-8628(19971231)73:4<416:aid‑ajmg9>3. 0. co;2-l. PMID: 9415468.

8. Fujimoto S, Yokochi K, Morikawa H, Nakano M, Shibata H, Togari H, Wada Y. Recurrent cerebral infarctions and del(10)(p14p15.1) de novo in HDR (hypoparathyroidism, sensorineural deafness, renal dysplasia) syndrome. Am J Med Genet. 1999 Oct 29;86(5):427-9. doi: 10.1002/(sici)1096-8628(19991029)86:5<427:aid‑ajmg6>3. 0. co;2-i. PMID: 10508983.

9. Hasegawa T., Quoted in Online mendelian Inheritance in Man, Personal communication, John Hopkins University #146255, 1998

10. 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 May 21;279(21):22624-34. doi: 10.1074/jbc.M401797200. Epub 2004 Feb 24. PMID: 14985365.

11. Van Esch H, Groenen P, Nesbit MA, Schuffenhauer S, Lichtner P, Vanderlinden G, Harding B, Beetz R, Bilous RW, Holdaway I, Shaw NJ, Fryns JP, Van de Ven W, Thakker RV, Devriendt K. GATA3 haplo‑insufficiency causes human HDR syndrome. Nature. 2000 Jul 27;406(6794):419-22. doi: 10.1038/35019088. PMID: 10935639.

12. Yumita S, Furukawa Y, Sohn HE, Unakami H, Miura R, Yoshinaga K. Familial idiopathic hypoparathyroidism and progressive sensorineural deafness. Tohoku J Exp Med. 1986 Feb;148(2):135-41. doi: 10.1620/tjem.148.135. PMID: 3961795.

13. Watanabe T, Mochizuki H, Kohda N, Minamitani K, Minagawa M, Yasuda T, Niimi H. Autosomal dominant familial hypoparathyroidism and sensorineural deafness without renal dysplasia. Eur J Endocrinol. 1998 Dec;139(6):631-4. doi: 10.1530/eje.0.1390631. PMID: 9916869.

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Article was published in

Internal Medicine

2023 Issue E-3