• 1 Department of Paediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia
Singapore Med J, 1997 Sep;38(9):388-90.
PMID: 9407765


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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