title: Distal renal tubular acidosis and hereditary elliptocytosis in a single family.
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.
authors.affiliation: Department of Paediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.
authors.forename: M K
authors.initials: MK
authors.lastname: Thong
authors.forename: A A
authors.initials: AA
authors.lastname: Tan
authors.forename: H P
authors.initials: HP
authors.lastname: Lin
mesh_terms: 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