SYNDROME OF HYPOPARATHYROIDISM, DEAFNESS AND RENAL DISEASE (HDR) IN A 7 YEARS OLD BOY AT BAHAWALPUR

Syndrome of (hypoparathyroidism, deafness and renal disease) HDS is a rare autosomal dominant syndrome which is characterized by triad of hypoparathyroidism, sensorineural hearing loss and renal disease. The syndrome is caused by mutation of GATA3 gene on chromosome 10p. We report a case of 7 years...

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Autores principales:	Sumera Akram, Muhammad Ahmed Khan
Formato:	article
Lenguaje:	EN
Publicado:	Army Medical College Rawalpindi 2020
Materias:	hypoparathyroidism renal disease sensorineural deafness Medicine R Medicine (General) R5-920
Acceso en línea:	https://doaj.org/article/d50e2f48fe134388814b352ee79a82a6
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spelling	oai:doaj.org-article:d50e2f48fe134388814b352ee79a82a62021-12-02T14:55:19ZSYNDROME OF HYPOPARATHYROIDISM, DEAFNESS AND RENAL DISEASE (HDR) IN A 7 YEARS OLD BOY AT BAHAWALPUR0030-96482411-8842https://doaj.org/article/d50e2f48fe134388814b352ee79a82a62020-10-01T00:00:00Zhttps://pafmj.org/index.php/PAFMJ/article/view/5612https://doaj.org/toc/0030-9648https://doaj.org/toc/2411-8842Syndrome of (hypoparathyroidism, deafness and renal disease) HDS is a rare autosomal dominant syndrome which is characterized by triad of hypoparathyroidism, sensorineural hearing loss and renal disease. The syndrome is caused by mutation of GATA3 gene on chromosome 10p. We report a case of 7 years old boy who presented in Bahawalpur Victoria Hospital Bahawalpur, Pakistan with recurrent tetanic spells, muscular aches and pains for last 15 days. He was operated four years back for renal stones. His blood complete picture was normal except for mild anemia. His serum calcium level was low i.e. 6.9 mg/dL. Serum magnesium, phosphate, alkaline phospha-tase and Vitamin D levels were normal. Serum PTH (parathyroid hormone) level was low i.e. 4.51 pg/ml (Normal range 11-67 pg/mL). Urine RE showed albumin, pus cells and calcium oxalate crystals. Pure tone audiometry showed bilateral mild to moderate degree of sensorineural hearing loss.Sumera AkramMuhammad Ahmed KhanArmy Medical College Rawalpindiarticlehypoparathyroidismrenal diseasesensorineural deafnessMedicineRMedicine (General)R5-920ENPakistan Armed Forces Medical Journal, Vol 70, Iss 5, Pp 1596-1598 (2020)
institution	DOAJ
collection	DOAJ
language	EN
topic	hypoparathyroidism renal disease sensorineural deafness Medicine R Medicine (General) R5-920
spellingShingle	hypoparathyroidism renal disease sensorineural deafness Medicine R Medicine (General) R5-920 Sumera Akram Muhammad Ahmed Khan SYNDROME OF HYPOPARATHYROIDISM, DEAFNESS AND RENAL DISEASE (HDR) IN A 7 YEARS OLD BOY AT BAHAWALPUR
description	Syndrome of (hypoparathyroidism, deafness and renal disease) HDS is a rare autosomal dominant syndrome which is characterized by triad of hypoparathyroidism, sensorineural hearing loss and renal disease. The syndrome is caused by mutation of GATA3 gene on chromosome 10p. We report a case of 7 years old boy who presented in Bahawalpur Victoria Hospital Bahawalpur, Pakistan with recurrent tetanic spells, muscular aches and pains for last 15 days. He was operated four years back for renal stones. His blood complete picture was normal except for mild anemia. His serum calcium level was low i.e. 6.9 mg/dL. Serum magnesium, phosphate, alkaline phospha-tase and Vitamin D levels were normal. Serum PTH (parathyroid hormone) level was low i.e. 4.51 pg/ml (Normal range 11-67 pg/mL). Urine RE showed albumin, pus cells and calcium oxalate crystals. Pure tone audiometry showed bilateral mild to moderate degree of sensorineural hearing loss.
format	article
author	Sumera Akram Muhammad Ahmed Khan
author_facet	Sumera Akram Muhammad Ahmed Khan
author_sort	Sumera Akram
title	SYNDROME OF HYPOPARATHYROIDISM, DEAFNESS AND RENAL DISEASE (HDR) IN A 7 YEARS OLD BOY AT BAHAWALPUR
title_short	SYNDROME OF HYPOPARATHYROIDISM, DEAFNESS AND RENAL DISEASE (HDR) IN A 7 YEARS OLD BOY AT BAHAWALPUR
title_full	SYNDROME OF HYPOPARATHYROIDISM, DEAFNESS AND RENAL DISEASE (HDR) IN A 7 YEARS OLD BOY AT BAHAWALPUR
title_fullStr	SYNDROME OF HYPOPARATHYROIDISM, DEAFNESS AND RENAL DISEASE (HDR) IN A 7 YEARS OLD BOY AT BAHAWALPUR
title_full_unstemmed	SYNDROME OF HYPOPARATHYROIDISM, DEAFNESS AND RENAL DISEASE (HDR) IN A 7 YEARS OLD BOY AT BAHAWALPUR
title_sort	syndrome of hypoparathyroidism, deafness and renal disease (hdr) in a 7 years old boy at bahawalpur
publisher	Army Medical College Rawalpindi
publishDate	2020
url	https://doaj.org/article/d50e2f48fe134388814b352ee79a82a6
work_keys_str_mv	AT sumeraakram syndromeofhypoparathyroidismdeafnessandrenaldiseasehdrina7yearsoldboyatbahawalpur AT muhammadahmedkhan syndromeofhypoparathyroidismdeafnessandrenaldiseasehdrina7yearsoldboyatbahawalpur
_version_	1718389353170862080

SYNDROME OF HYPOPARATHYROIDISM, DEAFNESS AND RENAL DISEASE (HDR) IN A 7 YEARS OLD BOY AT BAHAWALPUR

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