Correlation of kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney disease.

ABSTRACT:

Background and objectives

Renal function and imaging findings have not been comprehensively and prospectively characterized in a broad age range of patients with molecularly confirmed autosomal recessive polycystic kidney disease (ARPKD).

Design, setting, participants, & measurements

Ninety potential ARPKD patients were examined at the National Institutes of Health Clinical Center. Seventy-three fulfilled clinical diagnostic criteria, had at least one PKHD1 mutation, and were prospectively evaluated using magnetic resonance imaging (MRI), high-resolution ultrasonography (HR-USG), and measures of glomerular and tubular function.

Results

Among 31 perinatally symptomatic patients, 25% required renal replacement therapy by age 11 years; among 42 patients who became sympto

SUBMITTER: Gunay-Aygun M 

PROVIDER: S-EPMC2879301 | biostudies-literature | 2010 Jun

REPOSITORIES: biostudies-literature