PEDIATRICS Vol. 34 No. 3 September 1964, pp. 337-345
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FAMILIAL JUVENILE NEPHRONOPHTHISIS

An Unrecognized Renal Disease in the United States

John A. Mangos M.D.1, John M. Opitz M.D.1, Charles C. Lobeck M.D.1, and David U. Cookson M.D.1

1 Departments of Pediatrics and Medicine, University of Wisconsin Medical School, Madison, Wisconsin

Two siblings with a chronic renal disease manifested by polyuria, polydipsia, and retardation of growth at an early age and leading to chronic renal insufficiency were studied. One child died in terminal renal failure. The clinical picture of the disease was identical to a disease previously described in Europe and named "familial juvenile nephronophthisis" by Fanconi et al. Persistent hypokalemia was a feature of the disease in our patient seen before the stage of terminal renal failure. Therapy with potassium chloride resulted in reduction of polyuria, increased rate of growth, and arrest of progression of renal insufficiency. The microscopic renal pathology of both patients was not specific but resembled that of "chronic nephritis." Decreased ability to concentrate the urine was observed in the mother and 3 siblings of our patients. Genetic analysis of the reported sibships suggests that this disease occurs only in individuals homozygous for a rare autosomal gene. The present investigation still has not defined very convincing pathognomonic criteria which will allow for a definite diagnosis in a sporadic case; nevertheless, we feel that the total clinical, physiologic, and pathologic picture of the disease is quite characteristic and should suggest the correct diagnosis even in a sporadic case.

Submitted on February 10, 1964
Accepted on May 4, 1964