Case Report: An atypical case of ARPKD highlights the utility and challenges of implementing genetic testing in cystic kidney disease [PDF]
Frontiers in PediatricsBackgroundBiallelic pathogenic variants in PKHD1 cause a highly heterogenous disease, predominantly involving the kidneys and liver. Although the correlation between genotype and phenotype remains unclear, many variants in this gene have been described ...
Jonathan Marquez +11 more
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ARPKD With Shrinking Kidneys and Progressive Loss of Kidney Function [PDF]
Kidney Int RepArriola-Montenegro J +5 more
europepmc +3 more sources
Organoid-on-a-chip model of human ARPKD reveals mechanosensing pathomechanisms for drug discovery [PDF]
Science Advances, 2022 Organoids serve as a novel tool for disease modeling in three-dimensional multicellular contexts. Static organoids, however, lack the requisite biophysical microenvironment such as fluid flow, limiting their ability to faithfully recapitulate disease ...
Ken Hiratsuka +8 more
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Atypical Liver Ultrasound Image in a Boy with Autosomal Recessive Polycystic Kidney Disease (ARPKD) and New PKD1 Variant-A Case Report. [PDF]
Genes (Basel)Background: Autosomal recessive polycystic kidney disease (ARPKD) is a rare form of PKD that leads to the development of multiple renal cysts and hepatic fibrosis.
Turczyn A, Krzemień G, Nguyen D.
europepmc +2 more sources
Gastrostomy Tube Insertion in Pediatric Patients With Autosomal Recessive Polycystic Kidney Disease (ARPKD): Current Practice [PDF]
Frontiers in Pediatrics, 2018 Introduction: Autosomal recessive polycystic kidney disease (ARPKD) is a severe hepatorenal disorder of childhood. Early renal disease in ARPKD may require renal replacement therapy and is associated with failure to thrive resulting in a need for ...
Kathrin Burgmaier +10 more
doaj +2 more sources
The molecular structure and function of fibrocystin, the key gene product implicated in autosomal recessive polycystic kidney disease (ARPKD) [PDF]
Annals of Human Genetics, 2023 Autosomal recessive polycystic kidney disease is an early onset inherited hepatorenal disorder affecting around 1 in 20,000 births with no approved specific therapies. The disease is almost always caused by variations in the polycystic kidney and hepatic
Travis A K Bannell, J.J.B. Cockburn
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Electrolyte and metabolite composition of cystic fluid from a rat model of ARPKD [PDF]
Communications BiologyFluid-filled cysts are the key feature of polycystic kidney disease, which eventually leads to renal failure. We analyzed the composition of cyst fluid from a rat model of autosomal recessive polycystic kidney disease, the PCK rat, and identified sexual ...
Christine A. Klemens +8 more
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Pilot study using a discrete mathematical approach for topological analysis and ssGSEA of gene expression in autosomal recessive polycystic kidney disease [PDF]
Scientific ReportsAutosomal recessive polycystic kidney disease (ARPKD) is a severe genetic disorder characterized by renal cystogenesis and hepatic fibrosis, primarily associated with PKHD1 mutations.
Nobuo Okui +2 more
doaj +2 more sources
#3206 An in vivo study of novel genetic modifiers in autosomal recessive polycystic kidney disease (ARPKD) [PDF]
Nephrology, Dialysis and TransplantationAutosomal recessive polycystic kidney disease (ARPKD) is a rare genetic disorder that manifests with bilaterally enlarged, cystic kidneys, hepatic fibrosis and pulmonary hypoplasia, with death reported in around 30%–50% of affected neonates ...
Soniya A. Malik, Paraskevi Goggolidou
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Physiological Reports, 2022 Autosomal recessive polycystic kidney disease (ARPKD) is an inherited pathology caused mainly by mutations of the polycystic kidney and hepatic disease 1 (PKHD1) gene, which usually leads to end‐stage renal disease.
Biyang Xu +6 more
doaj +2 more sources