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 ?
Familial Hypoplastic GCKD.--This is the second familial GCK for which the term glomerulocystic kidney disease is applied.
GCKD (Not Otherwise Specified).--This group encompasses cases due to new mutations that do not fall in the above categories and is designated GCKD not otherwise specified (Table 1).
Nevertheless, ciliary (dys)function and hearing (loss), as well as a multitude of other conditions (123-125) are intimately linked, (126,127) and this case may provide an interesting starting point to explore new mutations causing GCKD, currently listed under GCKD, not otherwise specified, in our classification.
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.