Autosomal dominant polycystic kidney disease types 1 and 2: assessment of US sensitivity for diagnosis.
OBJECTIVE
To estimate the sensitivity and specificity of ultrasonography (US) in the diagnosis of autosomal dominant polycystic kidney disease (ADPKD) types 1 and 2, as compared with those of genetic linkage analysis.


METHODS
A renal US and DNA analysis for ADPKD was performed in 319 patients who were at risk, 161 of whom were younger than 30 years, from 54 families with ADPKD. The sensitivity of US for diagnosis was estimated by comparing the US results with genotypes inferred from linkage studies.


RESULTS
The sensitivity of US in individuals younger than 30 years who were at risk was 95% for ADPKD type 1 but only 67% for ADPKD type 2. The sensitivity of US for either ADPKD type 1 or ADPKD type 2 in individuals aged 30 years or older who were at risk was 100%. The overall sensitivity in individuals younger than 30 years was 93%. For both ADPKD types 1 and 2 in all patients, US demonstrated a sensitivity of 97%, a specificity of 100%, and an accuracy of 98%.


CONCLUSIONS
US is the first-line imaging technique that should be used in the diagnosis of ADPKD. The sensitivity in individuals aged 30 years or older is 100%, but if there is a clinical suspicion of ADPKD type 2 in individuals younger than 30 years, linkage analysis should also be considered.
Nicolau
C
C
Department of Radiology, Hospital Clínic, University of Barcelona, Spain. nicolau@medicina.ub.es
Torra
R
R
Badenas
C
C
Vilana
R
R
Bianchi
L
L
Gilabert
R
R
Darnell
A
A
Brú
C
C
D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000235:genetics; D005260:Female; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D005821:Genetic Techniques; D005838:Genotype; D006801:Humans; D007223:Infant; D007668:Kidney / Q000000981:diagnostic imaging; D008126:Lod Score; D008297:Male; D008875:Middle Aged; D016891:Polycystic Kidney, Autosomal Dominant / Q000175:diagnosis / Q000000981:diagnostic imaging* / Q000235:genetics; D012680:Sensitivity and Specificity; D014463:Ultrasonography
D004247:DNA