Distal renal tubular acidosis and hereditary elliptocytosis in a single family

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.