RGD Reference Report - Clinical utility of PKD2 mutation testing in a polycystic kidney disease cohort attending a specialist nephrology out-patient clinic. - Rat Genome Database

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Clinical utility of PKD2 mutation testing in a polycystic kidney disease cohort attending a specialist nephrology out-patient clinic.

Authors: Robinson, C  Hiemstra, TF  Spencer, D  Waller, S  Daboo, L  Karet Frankl, FE  Sandford, RN 
Citation: Robinson C, etal., BMC Nephrol. 2012 Aug 3;13:79. doi: 10.1186/1471-2369-13-79.
RGD ID: 7175273
Pubmed: PMID:22863349   (View Abstract at PubMed)
PMCID: PMC3502417   (View Article at PubMed Central)
DOI: DOI:10.1186/1471-2369-13-79   (Journal Full-text)

ABSTRACT: BACKGROUND: ADPKD affects approximately 1:1000 of the worldwide population. It is caused by mutations in two genes, PKD1 and PKD2. Although allelic variation has some influence on disease severity, genic effects are strong, with PKD2 mutations predicting later onset of ESRF by up to 20 years. We therefore screened a cohort of ADPKD patients attending a nephrology out-patient clinic for PKD2 mutations, to identify factors that can be used to offer targeted gene testing and to provide patients with improved prognostic information. METHODS: 142 consecutive individuals presenting to a hospital nephrology out-patient service with a diagnosis of ADPKD and CKD stage 4 or less were screened for mutations in PKD2, following clinical evaluation and provision of a detailed family history (FH). RESULTS: PKD2 mutations were identified in one fifth of cases. 12% of non-PKD2 patients progressed to ESRF during this study whilst none with a PKD2 mutation did (median 38.5 months of follow-up, range 16-88 months, p < 0.03). A significant difference was found in age at ESRF of affected family members (non-PKD2 vs. PKD2, 54 yrs vs. 65 yrs; p < 0.0001). No PKD2 mutations were identified in patients with a FH of ESRF occurring before age 50 yrs, whereas a PKD2 mutation was predicted by a positive FH without ESRF. CONCLUSIONS: PKD2 testing has a clinically significant detection rate in the pre-ESRF population. It did not accurately distinguish those individuals with milder renal disease defined by stage of CKD but did identify a group less likely to progress to ESRF. When used with detailed FH, it offers useful prognostic information for individuals and their families. It can therefore be offered to all but those whose relatives have developed ESRF before age 50.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
autosomal dominant polycystic kidney disease onsetIAGP 7175273DNA:mutations:multipleRGD 
autosomal dominant polycystic kidney disease onsetISOPKD2 (Homo sapiens)7175273; 7175273DNA:mutations:multipleRGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Polycystic kidney dysplasia onsetIAGP 7175273DNA:mutations:multipleRGD 
Objects Annotated

Genes (Rattus norvegicus)
Pkd2  (polycystin 2, transient receptor potential cation channel)

Genes (Mus musculus)
Pkd2  (polycystin 2, transient receptor potential cation channel)

Genes (Homo sapiens)
PKD2  (polycystin 2, transient receptor potential cation channel)


Additional Information