Deciphering the Impact of RAC1‐SPTAN1 in ARPKD Cystogenesis Using Multifaceted Models [PDF]
Advanced ScienceAutosomal recessive polycystic kidney disease (ARPKD) leads to severe renal cysts and progressive kidney dysfunction, with no approved treatments. The absence of such cystic phenotypes in Pkhd1−/− mice underscores the need for novel models that better ...
Shohei Kuraoka +9 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
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Novel compound heterozygous PKHD1 mutations in a Chinese ARPKD pedigree and analysis of genotype-phenotype correlations [PDF]
Frontiers in MedicineBackgroundAutosomal recessive polycystic kidney disease (ARPKD) is an inherited renal disorder characterized by multiple renal cysts. This study aimed to investigate the pathogenesis of PKHD1 gene variants in a Chinese ARPKD pedigree and elucidate the ...
Jie Zhao, Kang Yu, Yujuan Huang
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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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Autosomal Recessive Polycystic Kidney Disease in a Child Complicated by Autoimmune Hemolytic Anemia: A Case Report [PDF]
Pediatric Sciences Journal (Egypt), 2023 Autosomal recessive polycystic kidney disease (ARPKD) is a rare genetic disorder that presents as an isolated polycystic renal disease in childhood, or associated with congenital hepatic fibrosis and/or Caroli disease.
Magd A. Kotb +7 more
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Rapidly progressive nephromegaly in a neonate with autosomal recessive poly cystic kidney disease [PDF]
Journal of Nephropathology, 2017 Background: Autosomal recessive polycystic kidney disease (ARPKD) associates with significant renal and liver-related morbidity and mortality in children. Rarely severe enlargement of kidneys necessitates nephrectomy and initiating dialysis.
Mitra Naseri +3 more
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Frontiers in Medicine, 2021 Autosomal recessive polycystic kidney disease (ARPKD) is a severe renal cystic disease caused mainly by the polycystic kidney and hepatic disease 1 (PKHD1).
Chengxian Xu +14 more
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Clinics and Practice, 2023 Autosomal recessive polycystic kidney disease (ARPKD) is often associated with hepatobiliary disease in the form of hepatic fibrosis and/or Caroli disease.
Ratna Acharya, Kiran Upadhyay
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Frontiers in Pediatrics, 2017 Autosomal recessive polycystic kidney disease (ARPKD) is a congenital hepatorenal fibrocystic disease. The hepatic manifestations of ARPKD can range from asymptomatic to portal hypertension and massively dilated biliary system that results in liver ...
Andrew Wehrman +2 more
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A human multi-lineage hepatic organoid model for liver fibrosis
Nature Communications, 2021 Autosomal recessive polycystic kidney disease (ARPKD) is a genetic disorder which is associated with kidney and liver pathology, including liver fibrosis.
Yuan Guan +15 more
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