Disease Information for Medullary cystic kidney disease: Definition

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  • rare disorder associated with almost universal progression to ESRD; The childhood type-juvenile nephronophthisis-is an autosomal recessive disorder caused by mutations in the NPH1, NPH2, and NPH3 genes; the type appearing in adulthood-medullary cystic disease-is autosomal dominant; Both types are manifested by multiple small renal cysts at the corticomedullary junction and medulla; The cortex becomes fibrotic, and as the disease progresses, interstitial inflammation and glomerular sclerosis appear; Patients with both forms exhibit polyuria, pallor, and lethargy; Hypertension occurs at the later stages of disease; The juvenile form causes growth retardation and ESRD before age 20 years; Patients require large amounts of salt and water as a result of renal salt wasting; Ultrasound and CT scan show small, scarred kidneys, and an open renal biopsy may be necessary to recover tissue from the corticomedullary junction; There is no current medical therapy that will prevent progression to renal failure; Adequate salt and water intake are essential to replenish renal losses--------------[CMDXRX 2005]----------

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