GCK


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GCK

A gene on chromosome 7p15.3-p15.1 that encodes a glucokinase (hexokinase) that phosphorylates glucose yielding glucose-6-phosphate, the first usual step in glucose metabolism.

Molecular biology
GCK mutations are linked to type-2 diabetes, maturity-onset diabetes of the young, type 2 (MODY2) and persistent hyperinsulinemic hypoglycaemia of infancy (PHHI).
References in periodicals archive ?
46-50) Early-onset GCK may follow a stable course for several years (44,51) or progress to end-stage renal disease in as short a time as 3 years.
Sonographic findings, particularly in the fetus and neonate, make it difficult to distinguish GCK from other cystic renal diseases.
In adults the radiologic diagnosis of GCK is less problematic, but glomerular cysts are frequently missed because their detection is below the threshold of ultrasonography or computed tomography.
Polycystic kidney disease can occasionally present as GCK and the diagnosis can be easily missed.
Atypical ARPKD may occur (1) in adults, predominantly with liver instead of kidney failure; (2) in newborns, with absence of liver disease; and (3) in newborns, with GCK and only focal collecting duct dilatation, with absence of liver disease.
An example of ARPKD presenting as GCK is shown in case 2, that of a 10-week-old male infant born with bilateral kidney enlargement, in which essentially all glomeruli were cystic (Figure 4, A through C).
This case illustrates that cystic involvement of the medulla in GCK is a helpful diagnostic feature that should raise the possibility of ARPKD.
16) Some authors (10), (78) estimated that about 50% of presumed GCK diagnoses described in infants are examples of early-onset ADPKD.
It is important to (1) raise the possibility of an underlying heritable disease and (2) initiate a genetic workup that includes entities in the differential diagnosis of GCK.
From the start, hereditary GCK was thought to be an autosomal dominant disorder.
This is the second familial GCK for which the term glomerulocystic kidney disease is applied.
122) The significance of these MTDN5 mutations in the context of GCK is unknown and the case could be assigned to the syndromic GCK group.