Results 71 to 80 of about 2,905 (217)
IJU Case Reports, Volume 8, Issue 4, Page 330-333, July 2025.ABSTRACT Introduction Posterior reversible leukoencephalopathy syndrome (PRES) is a rare but serious complication in kidney transplant recipients, often triggered by calcineurin inhibitors (CNIs) and infections. Case Presentation A 52‐year‐old woman with end‐stage kidney disease underwent cadaveric renal transplantation. Two months post‐transplant, she
Kenji Tsutsui +9 more
wiley +1 more source
Frontiers in Pediatrics, 2017 Autosomal recessive polycystic kidney disease (ARPKD) and other hepatorenal fibrocystic diseases (HRFD) are relatively rare recessive disorders that constitute an important set of childhood nephropathies.
Lisa M. Guay-Woodford +5 more
doaj +1 more source
American Journal of Medical Genetics Part A, Volume 197, Issue 6, June 2025.ABSTRACT Cystic kidney diseases (CyKD) are a diverse group of disorders affecting more than 1 in 1000 individuals. Over 120 genes are implicated, primarily encoding components of the primary cilium, transcription factors, and morphogens. Prognosis varies greatly by molecular diagnosis. Causal variants are not identified in 10%–60% of individuals due to
Deborah Watson +10 more
wiley +1 more source
BMC Pregnancy and Childbirth, 2021 Background Both Caroli disease (CD) and autosomal recessive polycystic kidney disease (ARPKD) are autosomal recessive disorders, which are more commonly found in infants and children, for whom surviving to adulthood is rare.
Xiuzhen Yao +7 more
doaj +1 more source
Advancement of scienceServing as the cell's sensory antennae, primary cilia are linked to numerous human genetic diseases when they malfunction. DZIP1L, identified as one of the genetic causes of human autosomal recessive polycystic kidney disease (ARPKD), is an ...
Huicheng Chen +9 more
semanticscholar +1 more source
Scientific Reports, 2020 To test the association between bilateral nephrectomies in patients with autosomal recessive polycystic kidney disease (ARPKD) and long-term clinical outcome and to identify risk factors for severe outcomes, a dataset comprising 504 patients from the ...
K. Burgmaier +97 more
semanticscholar +1 more source
Defects of renal tubular homeostasis and cystogenesis in the Pkhd1 knockout
iScienceSummary: Loss of PKHD1-gene function causes autosomal recessive polycystic kidney disease (ARPKD) characterized by bilateral severely enlarged kidneys and congenital liver fibrosis requiring kidney replacement therapy most frequently during childhood ...
Julia C. Fox +5 more
doaj +1 more source
Therapeutic Potential for CFTR Correctors in Autosomal Recessive Polycystic Kidney DiseaseSummary
Cellular and Molecular Gastroenterology and Hepatology, 2021 Background & Aims: Autosomal recessive polycystic kidney disease (ARPKD) is caused by mutations in PKHD1, encoding fibrocystin/polyductin (FPC). Severe disease occurs in perinates. Those who survive the neonatal period face a myriad of comorbidities,
Murali K. Yanda +2 more
doaj +1 more source
Incompletely Penetrant PKD1 Alleles Mimic the Renal Manifestations of ARPKD [PDF]
Journal of the American Society of Nephrology, 2010 Autosomal dominant polycystic kidney disease (ADPKD), caused by mutation in PKD1 or PKD2, is usually an adult-onset disorder but can rarely manifest as a neonatal disease within a family characterized by otherwise typical ADPKD. Coinheritance of a hypomorphic PKD1 allele in trans with an inactivating PKD1 allele is one mechanism that can cause early ...
Vujic, M +11 more
openaire +3 more sources
Clinical and Translational Medicine, Volume 15, Issue 3, March 2025.• Canonical Hippo pathway activated in nphp1‐deficient disease models and patients. • Kibra was a key upstream molecule in regulating the activation of canonical Hippo pathway in nphp1‐deficient disease models and patients and closely related to renal cyst formation and fibrosis in nphp1KO mice.
Yichen Yang +9 more
wiley +1 more source