medullary cystic disease


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medullary cystic disease

Familial juvenile nephrophthisis, Senior-Loken syndrome Nephrology A group of AD and, less commonly AR, renal diseases characterized by renal cysts located at the corticomedullary junction in a background of scarring; MCD presents as functional tubular defects and Fanconi syndrome associated with azotemia, uremia and high-output renal failure 3-5 yrs after onset Clinical Retarded growth, renal osteodystrophy, tapetoretinal degeneration Lab Salt wasting, ↓ Na+, acidosis with hyperchloremia