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April 1968

Hereditary Elliptocytosis and Primary Renal Tubular Acidosis in a Single Family

Author Affiliations

USNR; USN, San Diego
From the Department of Pediatrics, US Naval Hospital, San Diego (Drs. Baehner and Anderson), and the Division of Hematology, Childrens Hospital of Los Angeles and the Department of Pediatrics, University of Southern California, School of Medicine (Dr. Gilchrist). Dr. Baehner is now at the Children's Hospital Medical Center, Boston.

Am J Dis Child. 1968;115(4):414-419. doi:10.1001/archpedi.1968.02100010416002

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