Diagnostic approach in autosomal dominant polycystic kidney disease.
Autosomal dominant polycystic kidney disease (ADPKD) is the most common Mendelian disorder of the kidney and affects all racial groups worldwide. It is characterized by focal development of renal and extrarenal cysts in an age-dependent manner. Typically, only a few renal cysts are detected in most affected individuals before 30 yr of age. However, by the fifth decade of life, hundreds to thousands of renal cysts will be found in the majority of patients. ADPKD is genetically heterogeneous. Mutations of two genes, PKD1 and PKD2, account for approximately 85 and 15% of cases, respectively. Although the clinical manifestations of these two genotypes overlap completely, patients with PKD1 have much more severe renal disease compared with those with PKD2, as evidenced by their ESRD occurring approximately 15 yr earlier. Renal ultrasonography commonly is used for the assessment of ADPKD, and age-dependent ultrasound diagnostic criteria with high sensitivity and specificity have been established for individuals who are born with 50% risk for PKD1. Although these diagnostic criteria are used widely for genetic counseling and for the evaluation of at-risk individuals as living-related kidney donors to their affected relatives, their application to individuals who are at risk for PKD2 or have undefined genotype needs to be refined further. Molecular genetic testing is available for ADPKD and may be useful for evaluation of at-risk individuals with equivocal imaging results, younger at-risk individuals as a living-related kidney donor, and individuals with atypical or de novo renal cystic disease.
Pei
York
Y
Division of Nephrology, Department of Medicine, University Health Network and University of Toronto, Toronto, Ontario, Canada M5G2N2. york.pei@uhn.on.ca
D000367:Age Factors; D000465:Algorithms; D003663:Decision Trees; D003937:Diagnosis, Differential; D003952:Diagnostic Imaging / Q000379:methods*; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D007676:Kidney Failure, Chronic / Q000209:etiology* / Q000235:genetics / Q000473:pathology; D008279:Magnetic Resonance Imaging; D025202:Molecular Diagnostic Techniques; D009154:Mutation; D010375:Pedigree; D016891:Polycystic Kidney, Autosomal Dominant / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D011237:Predictive Value of Tests; D015203:Reproducibility of Results; D018570:Risk Assessment; D012680:Sensitivity and Specificity; D012720:Severity of Illness Index; D050396:TRPP Cation Channels; D014057:Tomography, X-Ray Computed; D014463:Ultrasonography / Q000379:methods
D050396:TRPP Cation Channels