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.
Thong
M K
MK
Department of Paediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.
Tan
A A
AA
Lin
H P
HP
D000141:Acidosis, Renal Tubular / Q000150:complications* / Q000235:genetics*; D004612:Elliptocytosis, Hereditary / Q000150:complications* / Q000235:genetics; D005260:Female; D014644:Genetic Variation; D006801:Humans; D007223:Infant; D010375:Pedigree