ArticleClinical journal of the American Society of Nephrology : CJASN2010
Correlation of kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney disease.
Article in Clinical journal of the American Society of Nephrology : CJASN, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00068224 (Clinical and Molecular Investigations Into Ciliopathies), which is not on this map. Cited by 58 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Clinical and Molecular Investigations Into Ciliopathies
Who cites it
58 citing papers in PubMed, 1 synthesis or guideline pooled it, 128 citations in OpenAlex.
- Pooled it
- Characteristics of congenital hepatic fibrosis in a large cohort of patients with autosomal recessive polycystic kidney disease.Gastroenterology · 2013Trial
- Congenital hepatic fibrosis and portal hypertension in autosomal dominant polycystic kidney disease.Journal of pediatric gastroenterology and nutrition · 2012Trial
- Fibrocystin/polyductin (FPC): new functional insights into ARPKD pathogenesis revealed by informatics, comparative genomics, and model systems.Pediatric nephrology (Berlin, Germany) · 2026Review
- Modeling Complex Developmental Disease: The Case of Polycystic Kidney Disease.Journal of developmental biology · 2026Review
- ARPKD With Shrinking Kidneys and Progressive Loss of Kidney Function.Kidney international reports · 2026Article
- Predictors of kidney survival in children with autosomal recessive polycystic kidney disease.Clinical and experimental nephrology · 2026Article
- A Rare PKHD1 Frameshift Variant Identified in a Prenatally Diagnosed ARPKD Case From a Consanguineous Jordanian Family.Case reports in obstetrics and gynecology · 2026Article
- Determinants of left ventricular mass in children with autosomal recessive polycystic kidney disease.Journal of nephrology · 2025Article
- Kidney organoids demonstrate that PTH1R drives a cystogenic cAMP-pPKA-pCREB axis in developmental polycystic kidney disease.American journal of physiology. Renal physiology · 2025Article
- Kidney volume normative values in Central European children aged 0-19 years: a multicenter study.Pediatric nephrology (Berlin, Germany) · 2024Article
- The ARPKD Protein DZIP1L Regulates Ciliary Protein Entry by Modulating the Architecture and Function of Ciliary Transition Fibers.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2024Article
- Variable Clinical Presentations and Renal Outcome in Neonates With Autosomal Recessive Polycystic Kidney Disease.Cureus · 2024Article
- Distribution and classifications ofTurkish journal of medical sciences · 2024Article
- Review
- Atypical cystic hepatorenal disease in a 40-year-old female: What is the diagnosis? A nephrology zebra.Journal of nephrology · 2023Article
- Polycystic Kidney Disease Drug Development: A Conference Report.Kidney medicine · 2023Article
- Design of two ongoing clinical trials of tolvaptan in the treatment of pediatric patients with autosomal recessive polycystic kidney disease.BMC nephrology · 2023Article
- Cystic Kidney Diseases That Require a Differential Diagnosis from Autosomal Dominant Polycystic Kidney Disease (ADPKD).Journal of clinical medicine · 2022Review
- Probability of high-risk genetic matching with oocyte and semen donors: complete gene analysis or genotyping test?Journal of assisted reproduction and genetics · 2022Observational
Corrections and comments
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Authors and funding
23 authors at 2 institutions in 1 country.
Funding
Abstract
BACKGROUND AND
objectivesRenal 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.
resultsAmong 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 m(2)) 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.
conclusionsIn 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.
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Registered trials
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