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  • Title: Distal renal tubular acidosis and hereditary elliptocytosis in a single family.
    Author: Thong MK, Tan AA, Lin HP.
    Journal: Singapore Med J; 1997 Sep; 38(9):388-90. PubMed ID: 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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