Literature DB >> 9407765

Distal renal tubular acidosis and hereditary elliptocytosis in a single family.

M K Thong1, A A Tan, H P Lin.   

Abstract

Distal renal tubular acidosis (RTA) and hereditary elliptocytosis (HE) are apparently distinct, genetic conditions. We report a family with 3 children having both hereditary elliptocytosis and distal renal tubular acidosis. The simultaneous occurrence of these two conditions in three siblings could be due to covariations in the same family, although a possible contiguous gene syndrome for distal RTA and HE cannot be excluded. This report emphasises the importance of excluding a renal tubular defect in any child who presents with elliptocytosis and failure to thrive.

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Year:  1997        PMID: 9407765

Source DB:  PubMed          Journal:  Singapore Med J        ISSN: 0037-5675            Impact factor:   1.858


  2 in total

1.  High prevalence of Southeast Asian ovalocytosis in Malays with distal renal tubular acidosis.

Authors:  Narazah Mohd Yusoff; Hans Van Rostenberghe; Taku Shirakawa; Kaoru Nishiyama; Noryati Amin; Zainal Darus; Nik Zainal; Nizam Isa; Hiroyuki Nozu; Masafumi Matsuo
Journal:  J Hum Genet       Date:  2003-11-15       Impact factor: 3.172

2.  Band 3 mutations, renal tubular acidosis and South-East Asian ovalocytosis in Malaysia and Papua New Guinea: loss of up to 95% band 3 transport in red cells.

Authors:  L J Bruce; O Wrong; A M Toye; M T Young; G Ogle; Z Ismail; A K Sinha; P McMaster; I Hwaihwanje; G B Nash; S Hart; E Lavu; R Palmer; A Othman; R J Unwin; M J Tanner
Journal:  Biochem J       Date:  2000-08-15       Impact factor: 3.857

  2 in total

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