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

Clinical Journal of the American Society of Nephrology, ISSN: 1555-905X, Vol: 5, Issue: 6, Page: 972-984
2010
  • 94
    Citations
  • 0
    Usage
  • 61
    Captures
  • 2
    Mentions
  • 27
    Social Media
Metric Options:   Counts1 Year3 Year

Metrics Details

  • Citations
    94
  • Captures
    61
  • Mentions
    2
    • News Mentions
      2
      • 2
  • Social Media
    27
    • Shares, Likes & Comments
      27
      • Facebook
        27

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Design of two ongoing clinical trials of tolvaptan in the treatment of pediatric patients with autosomal recessive polycystic kidney disease

Djalila Mekahli 1,2 na1, Max C. Liebau   ORCID: orcid.org/0000-0003-0494-90803 na1, Melissa A. Cadnapaphornchai   ORCID: orcid.org/0000-0002-0460-24774, Stuart L. Goldstein   ORCID: orcid.org/0000-0003-3711-87855, Larry A. Greenbaum  

Article Description

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 symptomatic beyond 1 month (nonperinatal), 25% required kidney transplantation by age 32 years. Creatinine clearance (CrCl) for nonperinatal patients (103 ± 54 ml/min/1.73 m2) was greater than for perinatal patients (62 ± 33) (P = 0.002). Corticomedullary involvement on HR-USG was associated with a significantly worse mean CrCl (61 ± 32) in comparison with medullary involvement only (131 ± 46) (P < 0.0001). Among children with enlarged kidneys, volume correlated inversely with function, although with wide variability. Severity of PKHD1 mutations did not determine kidney size or function. In 35% of patients with medullary-only abnormalities, standard ultrasound was normal and the pathology was detectable with HR-USG. Conclusions: In ARPKD, perinatal presentation and corticomedullary involvement are associated with faster progression of kidney disease. Mild ARPKD is best detected by HR-USG. Considerable variability occurs that is not explained by the type of PKHD1 mutation. Copyright © 2010 by the American Society of Nephrology.

Bibliographic Details

Gunay-Aygun, Meral; Font-Montgomery, Esperanza; Lukose, Linda; Tuchman, Maya; Graf, Jennifer; Bryant, Joy C; Kleta, Robert; Garcia, Angelica; Edwards, Hailey; Piwnica-Worms, Katie; Adams, David; Bernardini, Isa; Fischer, Roxanne E; Krasnewich, Donna; Oden, Neal; Ling, Alex; Quezado, Zenaide; Zak, Colleen; Daryanani, Kailash T; Turkbey, Baris; Choyke, Peter; Guay-Woodford, Lisa M; Gahl, William A

Ovid Technologies (Wolters Kluwer Health)

Medicine

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