Literature DB >> 18520110

HDR syndrome (hypoparathyroidism, sensorineural deafness and renal disease) accompanied by renal tubular acidosis and endocrine abnormalities.

Abdullah Taslipinar1, Levent Kebapcilar, Mustafa Kutlu, Mustafa Sahin, Aydogan Aydogdu, Gokhan Uckaya, Omer Azal, Erol Bolu, Halil Ibrahim Aydin.   

Abstract

Type 1 (distal) and type 2 (proximal) renal tubular acidosis (RTA) are uncommon disorders, particularly in adults. HDR syndrome (hypoparathyroidism, sensorineural deafness and renal disease) is an autosomal dominant condition, defined by the triad hypoparathyroidism, renal dysplasia and hearing loss. Here, we describe a 19-year-old man with HDR syndrome accompanied by renal tubular acidosis and endocrinopathic changes.

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Year:  2008        PMID: 18520110     DOI: 10.2169/internalmedicine.47.0917

Source DB:  PubMed          Journal:  Intern Med        ISSN: 0918-2918            Impact factor:   1.271


  5 in total

1.  Vitamin D deficiency in a patient with HDR syndrome.

Authors:  Ifigenia Kostoglou-Athanassiou; Dimitrios Stefanopoulos; Areti Karfi; Panagiotis Athanassiou
Journal:  BMJ Case Rep       Date:  2015-07-08

2.  GATA3 mutation in a family with hypoparathyroidism, deafness and renal dysplasia syndrome.

Authors:  Zi-Yang Zhu; Qiao-Li Zhou; Shi-Ning Ni; Wei Gu
Journal:  World J Pediatr       Date:  2014-08-15       Impact factor: 2.764

3.  Novel DNA mutation in the GATA3 gene in an Emirati boy with HDR syndrome and hypomagnesemia.

Authors:  Amar Al-Shibli; Ibrahim Al Attrach; Patrick J Willems
Journal:  Pediatr Nephrol       Date:  2011-03-12       Impact factor: 3.714

4.  Seizure, deafness, and renal failure: a case of barakat syndrome.

Authors:  Nasrollah Maleki; Bahman Bashardoust; Manouchehr Iranparvar Alamdari; Zahra Tavosi
Journal:  Case Rep Nephrol       Date:  2013-10-22

5.  Hyperkalemia Unveiled: A Case of Barakat Syndrome.

Authors:  Kulwant Singh; Jasmine Sethi; Vinant Bhargava
Journal:  Indian J Nephrol       Date:  2020-01-03
  5 in total

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