Medullary cystic disease of the kidney (familial juvenile nephronophthisis) is characterized by anemia, azotemia, excessive renal sodium loss, normal blood pressure and urinary sediment, and innumerable small renal cysts, primarily at the corticomedullary junction. Selective renal angiography with 2× magnification enabled presumptive diagnosis in 4 of 5 cases. Characteristic features included marked cortical thinning and multiple cysts (1–40 mm in diameter) which spared the outermost cortex.
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Mena et al. (1974) studied this question.
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