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

作者信息

Thong M K, Tan A A, Lin H P

机构信息

Department of Paediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.

出版信息

Singapore Med J. 1997 Sep;38(9):388-90.

PMID:9407765
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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