GCKD


Also found in: Medical.
AcronymDefinition
GCKDGlomerulocystic Kidney Disease
References in periodicals archive ?
Desde el inicio del conflicto, la ONU entro en negociaciones con la RPK, el GCKD y varios actores regionales.
There are currently 13 GCKD cases reported with defined molecular abnormalities (type II).
Bernstein (9) remarked that "it remains to be determined if the different age groups and their clinical course are distinct diseases." Molecular insights into GCKD in the last decade appear to justify this remark.
Besides ARPKD, other entities that combine hepatic fibrosis with renal cysts include renal dysplasia, GCKD, early-onset ADPKD, and familial juvenile nephronophthisis.
(1,9,85-89) It remains to be determined what percentage of cases of adult ADPKD with no PKD1 or PKD2 mutations are indeed cases of GCKD. Candidate gene mutations include TCF2 (HNF1[beta])or UMOD.
This notion was supported by the finding of intrahepatic anomalies similar to ADPKD in 10% of GCKDs. (90) Bernstein (9) suggested that GCKD is an allelic disorder of classic ADPKD; however, multiple linkage studies (83,91) have excluded PKD1 and PKD2 as causative for ADGCKD.
Autosomal Dominant GCKD.--Autosomal dominant GCKD was first described by Rampoldi et al (94) who reported it in a family segregating ADGCKD, with mutations in the UMOD gene encoding uromodullin (95) (previously known as Tamm-Horsfall protein (96)).