Medullary Cystic Disease and Familial Juvenile Nephronophthisis

Abstract

AN editorial, "Cystic Diseases of the Kidney," published in the Journal last year,¹ contains the following statement:A clinical picture virtually identical with medullary cystic disease is encountered in familial juvenile nephronophthisis, first described by Fanconi et al.² in 1951, but only recently observed in the United States. Consanguinity has been common, and the mode of inheritance appears to be that of an autosomal recessive in which males and females are affected in equal numbers. Although the published descriptions and photomicrographs do not seem to resemble those of medullary cystic disease a recent report of ... presumably juvenile nephronophthisis has . . .