ReviewPediatric nephrology (Berlin, Germany)2014
Clinical manifestations of autosomal recessive polycystic kidney disease (ARPKD): kidney-related and non-kidney-related phenotypes.
Review in Pediatric nephrology (Berlin, Germany), 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.
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Who cites it
39 citing papers in PubMed, 107 citations in OpenAlex.
- Clinical spectrum, genetic variants, and outcomes of autosomal recessive polycystic kidney disease in Omani children: two-center experience.Pediatric nephrology (Berlin, Germany) · 2026Article
- Primary cilia: sensors of biliary homeostasis and disease.Nature reviews. Gastroenterology & hepatology · 2026Review
- 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
- Non-invasive screening for liver fibrosis by acoustic radiation force impulse in patients with ciliopathies.Scientific reports · 2025Article
- Evaluation and post-transplant management of children after multi-organ-with-kidney transplantation.Pediatric nephrology (Berlin, Germany) · 2024Review
- Epidemiology and outcomes of pediatric autosomal recessive polycystic kidney disease in the Middle East and North Africa.Pediatric nephrology (Berlin, Germany) · 2024Review
- A case report of autosomal recessive polycystic kidney disease with noncompaction of ventricular myocardium: coincidence or different manifestations of ciliopathy?BMC nephrology · 2024Article
- Variable Clinical Presentations and Renal Outcome in Neonates With Autosomal Recessive Polycystic Kidney Disease.Cureus · 2024Article
- Clinical manifestation, epidemiology, genetic basis, potential molecular targets, and current treatment of polycystic liver disease.Orphanet journal of rare diseases · 2024Review
- Defects of renal tubular homeostasis and cystogenesis in theiScience · 2024Article
- Gene therapy for pediatric genetic kidney diseases.Pediatric discovery · 2023Review
- Acinar cystic transformation of the pancreas-a rare case in a young patient.Journal of surgical case reports · 2023Article
- The causes and consequences of paediatric kidney disease on adult nephrology care.Pediatric nephrology (Berlin, Germany) · 2022Review
- Clinical features of autosomal recessive polycystic kidney disease in the Japanese population and analysis of splicing in PKHD1 gene for determination of phenotypes.Clinical and experimental nephrology · 2022Article
- Polycystic Liver Disease: Advances in Understanding and Treatment.Annual review of pathology · 2022Review
- A human multi-lineage hepatic organoid model for liver fibrosis.Nature communications · 2021Article
- Oral delivery of peptide therapeutics in infants: Challenges and opportunities.Advanced drug delivery reviews · 2021Review
- Autosomal Recessive Polycystic Kidney Disease-The Clinical Aspects and Diagnostic Challenges.Journal of pediatric genetics · 2021Review
- Fibrocystic liver disease: novel concepts and translational perspectives.Translational gastroenterology and hepatology · 2021Review
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Autosomal recessive polycystic kidney disease (ARPKD), although less frequent than the dominant form, is a common, inherited ciliopathy of childhood that is caused by mutations in the PKHD1-gene on chromosome 6. The characteristic dilatation of the renal collecting ducts starts in utero and can present at any stage from infancy to adulthood. Renal insufficiency may already begin in utero and may lead to early abortion or oligohydramnios and lung hypoplasia in the newborn. However, there are also affected children who have no evidence of renal dysfunction in utero and who are born with normal renal function. Up to 30 % of patients die in the perinatal period, and those surviving the neonatal period reach end stage renal disease (ESRD) in infancy, early childhood or adolescence. In contrast, some affected patients have been diagnosed as adults with renal function ranging from normal to moderate renal insufficiency to ESRD. The clinical spectrum of ARPKD is broader than previously recognized. While bilateral renal enlargement with microcystic dilatation is the predominant clinical feature, arterial hypertension, intrahepatic biliary dysgenesis remain important manifestations that affect approximately 45 % of infants. All patients with ARPKD develop clinical findings of congenital hepatic fibrosis (CHF); however, non-obstructive dilation of the intrahepatic bile ducts in the liver (Caroli's disease) is seen at the histological level in only a subset of patients. Cholangitis and variceal bleeding, sequelae of portal hypertension, are life-threatening complications that may occur more often in advanced cases of liver disease. In this review we focus on common and uncommon kidney-related and non-kidney-related phenotypes. Clinical management of ARPKD patients should include consideration of potential problems related to these manifestations.
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