Correlation of Kidney Function, Volume and Imaging Findings, and PKHD1 Mutations in 73 Patients with Autosomal Recessive Polycystic Kidney Disease
- 1 June 2010
- journal article
- Published by Ovid Technologies (Wolters Kluwer Health) in Clinical Journal of the American Society of Nephrology
- Vol. 5 (6), 972-984
- https://doi.org/10.2215/cjn.07141009
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 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.Keywords
This publication has 34 references indexed in Scilit:
- PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosisMolecular Genetics and Metabolism, 2010
- Liver and kidney disease in ciliopathiesSeminars in Medical Genetics, Part C of the American Journal of Medical Genetics, 2009
- MKS3-Related Ciliopathy with Features of Autosomal Recessive Polycystic Kidney Disease, Nephronophthisis, and Joubert SyndromeThe Journal of Pediatrics, 2009
- Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF)Pediatric Radiology, 2008
- Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis: Summary statement of a First National Institutes of Health/Office of Rare Diseases conferenceThe Journal of Pediatrics, 2006
- Volume Progression in Polycystic Kidney DiseaseNew England Journal of Medicine, 2006
- Clinical and Molecular Characterization Defines a Broadened Spectrum of Autosomal Recessive Polycystic Kidney Disease (ARPKD)Medicine, 2006
- A cystatin C‐based formula without anthropometric variables estimates glomerular filtration rate better than creatinine clearance using the Cockcroft‐Gault formulaScandinavian Journal of Clinical and Laboratory Investigation, 2005
- Seventh Report of the Joint National Committee on Prevention, Detection, Evaluation, and Treatment of High Blood PressureHypertension, 2003
- Hepatobiliary fibropolycystic diseases: A clinical and histological review of 51 patientsJournal of Hepatology, 1986