maturity onset diabetes of the young type 5

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maturity onset diabetes of the young type 5

An autosomal dominant condition (OMIM:137920) characterised by non-diabetic renal disease (due to defective renal development) and diabetes, which may begin under age 25 years—i.e., in keeping with a diagnosis of maturity onset diabetes of the young (MODY). The renal pathology is variable, and includes renal cysts, glomerular tufts, aberrant nephrogenesis, primitive tubules, irregular collecting systems, oligomeganephronia, enlarged renal pelvices, abnormal calyces, small kidney, single kidney, horseshoe kidney, and hyperuricaemic nephropathy.

Molecular pathology
Defects in HNF1B cause maturity onset diabetes of the young type 5.
References in periodicals archive ?
For example, multicystic kidneys erroneously called MCDKs were proven to be examples of GCKD instead.
13) However, most reported GCKD cases lack demonstrable lower urinary tract obstruction.
92,225) While such animal models offer the possibility to study GCK, Sharp et al (83) excluded GCKD disease-susceptibility genes that cosegregate with markers of the candidate intervals for the human jcpk homologue on either chromosome band 10q21 or 22q11.
As previously discussed above for TCF2 and UMOD, recent molecular-genetic advances have improved our understanding of the familial GCKD variants.
246) In this context, the transcriptional network of PKD (247) and the transcriptional control of PKHD1 and UMOD (245-247) can be used to link the 2 recognized familial types of GCKD with ARPKD.
Glomerulocystic kidney disease (GCKD) associated with Henoch-Schoenlein purpura: a case report and a review of adult cases of GCKD.