The carboxy‐terminus of the human ARPKD protein fibrocystin can control STAT3 signalling by regulating SRC‐activation [PDF]
Journal of Cellular and Molecular Medicine, 2020 Autosomal recessive polycystic kidney disease (ARPKD) is mainly caused by variants in the PKHD1 gene, encoding fibrocystin (FC), a large transmembrane protein of incompletely understood cellular function. Here, we show that a C‐terminal fragment of human
Claudia Dafinger +11 more
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A Rare Diagnosis of Caroli Syndrome in a Young Patient [PDF]
Clin Case RepABSTRACT Caroli syndrome is a rare but serious congenital disorder associated with portal hypertension and polycystic kidney disease. Early diagnosis via imaging, particularly MRCP, is crucial to prevent life‐threatening complications such as cholangitis and biliary cirrhosis.
Karimzadeh‐Soureshjani E +4 more
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Disease Stage Characterization of Hepatorenal Fibrocystic Pathology in the PCK Rat Model of ARPKD [PDF]
The Anatomical Record, 2010 AbstractRenal cysts in a 25 week male PCK kidney. See Mason et al., on page 1279, in this issue.
S. B. Mason +7 more
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Genetic landscape and clinical outcomes of autosomal recessive polycystic kidney disease in Kuwait [PDF]
HeliyonBackground: Autosomal recessive polycystic kidney disease (ARPKD), a rare genetic disorder characterized by kidney cysts, shows complex clinical and genetic heterogeneity.
Mariam E. Alhaddad +11 more
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ARPKD and early manifestations of ADPKD: the original polycystic kidney disease and phenocopies [PDF]
Pediatric Nephrology, 2014 Renal cysts are clinically and genetically heterogeneous conditions. Polycystic kidney disease (PKD) is common and its characterization has paved the way for the identification of a growing number of cilia-related disorders (ciliopathies) of which most ...
Carsten Bergmann
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Risk Factors for Neurocognitive Functioning in Children with Autosomal Recessive Polycystic Kidney Disease [PDF]
Frontiers in Pediatrics, 2017 This mini review provides an overview of the issues and challenges inherent in autosomal recessive polycystic kidney disease (ARPKD), with a particular focus on the neurological factors and neurocognitive functioning of this population.
Stephen R. Hooper
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Autosomal recessive polycystic kidney disease (ARPKD) in fetus: Autopsy based approach
Indian Journal of Pathology and Oncology, 2022 Polycystic kidney disease is a rare developmental anomaly inherited as Autosomal dominant or recessive. Autosomal recessive polycystic kidney disease (ARPKD) is an intractable cystic renal disease that results in chronic renal failure.
Shushruta Mohanty +3 more
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Frontiers in Pediatrics, 2020 Purpose: Liver involvement in autosomal recessive polycystic kidney disease (ARPKD) leads to the development of portal hypertension and its complications.
Dorota Wicher +11 more
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A rare cause of echogenic kidneys with oligohydramnios in the fetus: report of two different cases [PDF]
BMC Pregnancy and ChildbirthBackground Prenatal ultrasound findings of fetal bilateral echogenic kidneys accompanied by oligohydramnios can be highly stressful for both pregnant women and physicians.
Tim Phetthong +2 more
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Prostatic cyst in autosomal recessive polycystic kidney disease: A case presentation and literature review [PDF]
Urology Case ReportsProstatic cysts are common in the adult male population with intervention of these cysts typically reserved for symptomatic patients. However, current literature is limited on the diagnosis and management of prostatic cysts in the pediatric population ...
Ketty Bai +2 more
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