" /> Medullary cystic kidney disease 2 - CISMeF





Preferred Label : Medullary cystic kidney disease 2;

Obsolete resource : true;

Moved to : 162000;

Symbol : MCKD2;

CISMeF acronym : ADMCKD2; MCKD2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Medullary cystic kidney disease 2, autosomal dominant; ADMCKD2;

Description : Medullary cystic kidney disease (MCKD) is an autosomal dominant form of tubulointerstitial nephropathy characterized by formation of renal cysts at the corticomedullary junction. It is characterized by adult onset of impaired renal function and salt wasting resulting in end-stage renal failure by the sixth decade (Wolf et al., 2004). For a general phenotypic description and a discussion of genetic heterogeneity of medullary cystic kidney disease, see MCKD1 (174000).;

Prefixed ID : 603860;

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28/07/2025


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