Unified Criteria for Ultrasonographic Diagnosis of ADPKD
Por:
Pei, Y, Obaji, J, Dupuis, A, Paterson, AD, Magistroni, R, Dicks, E, Parfrey, P, Cramer, B, Coto, E, Torra, R, Millan, JLS, Gibson, R, Breuning, M, Peters, D, Ravine, D
Publicada:
1 ene 2009
Resumen:
Individuals who are at risk for autosomal dominant polycystic kidney disease are often screened by ultrasound using diagnostic criteria derived from individuals with mutations in PKD1. Families with mutations in PKD2 typically have less severe disease, suggesting a potential need for different diagnostic criteria. In this Study, 577 and 371 at-risk individuals from 58 PKD1 and 39 PKD2 families, respectively, were assessed by renal ultrasound and molecular genotyping. Using sensitivity data derived from genetically affected individuals and specificity data derived from genetically unaffected individuals, various diagnostic criteria were compared. In addition, data sets were created to simulate the PKD1 and PKD2 case mix expected in practice to evaluate the performance of diagnostic criteria for families of unknown genotype. The diagnostic criteria currently in use performed suboptimally for individuals with mutations in PKD2 as a result of reduced test sensitivity. In families of unknown genotype, the presence of three or more (unilateral or bilateral) renal cysts is sufficient for establishing the diagnosis in individuals aged 15 to 39 y, two or more cysts in each kidney is sufficient for individuals aged 40 to 59 y, and four or more cysts in each kidney is required for individuals >= 60 yr. Conversely, fewer than two renal cysts in at-risk individuals aged >= 40 yr is sufficient to exclude the disease. These unified diagnostic criteria will be useful for testing individuals who are at risk for autosomal dominant polycystic kidney disease in the usual clinical setting in which molecular genotyping is seldom performed.
Filiaciones:
Pei, Y:
Univ Toronto, Div Nephrol, Toronto, ON M5G 2N2, Canada
Obaji, J:
Univ Toronto, Div Nephrol, Toronto, ON M5G 2N2, Canada
Hosp Sick Children, Div Child Hlth Evaluat Sci, Toronto, ON M5G 1X8, Canada
Paterson, AD:
Univ Toronto, Dept Publ Hlth Sci, Toronto, ON M5G 2N2, Canada
Hosp Sick Children, Program Genet & Genom Biol, Toronto, ON M5G 1X8, Canada
Dicks, E:
Mem Univ, Div Nephrol, St John, NF, Canada
Parfrey, P:
Mem Univ, Div Nephrol, St John, NF, Canada
Cramer, B:
Mem Univ, Dept Radiol, St John, NF, Canada
Torra, R:
REDINREN, Fundacio Puigvert, Div Nephrol, Barcelona, Spain
Millan, JLS:
Hosp Ramon & Cajal, Unidad Genet Mol, E-28034 Madrid, Spain
Gibson, R:
Univ Melbourne, Dept Radiol, Melbourne, Vic, Australia
Breuning, M:
Leiden Univ, Med Ctr, Leiden, Netherlands
Peters, D:
Leiden Univ, Med Ctr, Leiden, Netherlands
Ravine, D:
Western Australian Inst Med Res, Sch Med & Pharmacol, Perth, WA, Australia
Univ Modena & Reggio Emilia, Div Nephrol, Modena, Italy.
Green Published, Bronze
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