HEREDITARY elliptocytosis is characterized by the presence of oval or elliptical-shaped red blood cells. Approximately 12% of affected individuals have an uncompensated hemolytic anemia.1 Hyperchloremic acidosis, rickets, or osteomalacia and severe potassium depletion characterize the syndrome of renal tubular acidosis; hypercalcinuria, nephrolithiasis, and nephrocalcinosis are commonly associated.2,3
Hereditary elliptocytosis and renal tubular acidosis are distinct genetically determined conditions with no apparent biochemical relationship to one another. Although hereditary elliptocytosis has been reported in association with various other genetically determined disorders4-8 its association with renal tubular dysfunction has not been previously documented.
This paper describes two siblings with a renal tubular defect having all the features of persistent primary renal tubular acidosis. Elliptocytosis was proven in one sibling and in the father, and was inferred retrospectively in the second sibling.
The family pedigree is outlined in Fig 1.
Report of Cases
Case 1 (III 3).—A girl, born following