PEDIATRICS Vol. 35 No. 3 March 1965, pp. 505-506
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Familial Juvenile Nephronophthisis

GEORGE CASSADY M.D.1

1 Assistant Professor of Pediatrics, University of Alabama Medical School, Birmingham, Alabama

The recent article entitled "Familial Juvenile Nephronophthisis" by Mangos, et al. (Pediatrics, 34:337, 1964) is marred by a single unsubstantiated statement in the opening paragraph: "Recognition and study of this disease (hereditary nephritis and deafness) had led to the demonstration of a biochemical defect in affected individuals." The carefully worded and informative work of Schafer, et al. (New Engl. J. Med., 267:51, 1962) neither supports nor openly suggests a cause and effect relationship between defective amino acid metabolism and the syndrome of hereditary renal dysfunction and deafness.