medullary cystic kidney disease 2

(redirected from MCKD)
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medullary cystic kidney disease 2

An autosomal dominant form (OMIM:603860) of tubulointerstitial nephropathy characterised by renal cysts at the corticomedullary junction, impaired renal function of adult onset, and salt-wasting resulting in end-stage renal failure by the sixth decade of life.

Molecular pathology
Caused by defects of UMOD, which encodes uromodulin, the most abundant protein in urine.
References in periodicals archive ?
A triad of diseases has been fully linked to UMOD gene mutations, namely MCKD type 2, FJHN, and glomerulocystic kidney disease.
Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics.
Mutations of the uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains.