HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS		QUICK SEARCH:   [advanced] Author: Keyword(s): Year:  Vol:  Page:

This Article Figures Only Full Text Full Text (PDF) Submit a response Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Nicolau, C. Articles by Brú, C. Search for Related Content PubMed PubMed Citation Articles by Nicolau, C. Articles by Brú, C.

Autosomal Dominant Polycystic Kidney Disease Types 1 and 2: Assessment of US Sensitivity for Diagnosis¹

¹ From the Ultrasound Unit, Department of Radiology (C.N., R.V., L.B., R.G., C. Brú), and the Departments of Nephrology (R.T., C. Badenas, A.D.) and Genetics (C. Badenas), Hospital Clínic, University of Barcelona, Villarroel 170, 08036 Barcelona, Spain. Received December 1, 1998; revision requested January 26, 1999; revision received February 18; accepted April 15. From the 1998 RSNA scientific assembly. Supported in part by a grant of the Fondo de Investigaciones Sanitarias de la Seguridad Social (FIS 97/2047). Address reprint requests to C.N. (e-mail: nicolau@medicina.ub.es).

PURPOSE: 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.

MATERIALS AND 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%.

CONCLUSION: 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.

Index terms: Genes and genetics • Kidney, cysts, 81.3121 • Kidney, diseases, 81.3121 • Kidney, US, 81.1298 • Ultrasound (US), comparative studies, 81.1298

This article has been cited by other articles:

				R J Currie, S J Freeman, F McCormick, and R J S McGonigle Polycystic kidneys: a cautionary story Br. J. Radiol., December 1, 2007; 80(960): e305 - e309. [Abstract] [Full Text] [PDF]

				A. B. Chapman Autosomal Dominant Polycystic Kidney Disease: Time for a Change? J. Am. Soc. Nephrol., May 1, 2007; 18(5): 1399 - 1407. [Abstract] [Full Text] [PDF]

				P. Igarashi and S. Somlo Genetics and Pathogenesis of Polycystic Kidney Disease J. Am. Soc. Nephrol., September 1, 2002; 13(9): 2384 - 2398. [Full Text] [PDF]

				M. Levy How well do we manage and support patients and families with dominantly inherited renal disease? Nephrol. Dial. Transplant., January 1, 2001; 16(1): 1 - 4. [Full Text] [PDF]

				A. B. Nascimento, D. G. Mitchell, X.-M. Zhang, T. Kamishima, L. Parker, and G. A. Holland Rapid MR Imaging Detection of Renal Cysts: Age-based Standards Radiology, December 1, 2001; 221(3): 628 - 632. [Abstract] [Full Text] [PDF]