AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE
Slovenska pediatrija, 2022 Autosomal recessive polycystic kidney disease (ARPKD) is an inherited ciliopathy caused by mutations in the PKHD1 gene, which encodes the membrane protein fibrocystin/polyductin.
Anja Fon Gabršček, Rina Rus
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Autosomal-recessive polycystic kidney disease [PDF]
Kidney International, 2005 Keywords: end-stage renal disease, congenital hepatic fibrosis, Bardet-Biedel syndrome ...
Patrick S. Parfrey
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Educational Case: Autosomal Recessive Polycystic Kidney Disease
Academic Pathology, 2017 The following fictional case is intended as a learning tool within the Pathology Competencies for Medical Education (PCME), a set of national standards for teaching pathology.
Ashley S. Hafer MPA +1 more
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Autosomal recessive polycystic kidney disease
, 2010 Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disorder involving cystic dilatation of the renal collecting ducts as well as varying degrees of hepatic abnormalities consisting of cysts, fibrosis, and portal hypertension. The ARPKD locus has been mapped to chromosome 6p21 and encodes a novel protein product named fibrocystin or ...
Jodi M. Smith, Ruth A. McDonald
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Rare Combination of Phenotypes of Karyomegalic Interstitial Nephritis and Autosomal Recessive Polycystic Kidney Disease in an Omani Child [PDF]
Oman Medical JournalAutosomal recessive polycystic kidney disease is one of the most prevalent inherited cystic kidney diseases in infants and children, common in highly consanguineous societies such as Oman. Karyomegalic interstitial nephritis is a rare cause of hereditary
Intisar Al Alawi +6 more
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Short-Term Outcome of Isolated Kidney Transplantation in Children with Autosomal Recessive Polycystic Kidney Disease: A Case Series and Literature Review [PDF]
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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Autosomal recessive polycystic kidney disease [PDF]
, 2020 National Cancer Institute
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Autosomal recessive polycystic kidney disease: Case report [PDF]
Srpski Arhiv za Celokupno Lekarstvo, 2009 Introduction. Autosomal recessive polycystic kidney disease is the most common heritable cystic renal disease occurring in infancy and childhood. The clinical spectrum of signs and symptoms of this disease is widely variable ranging from perinatal death ...
Stevanović Radmila +5 more
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Autosomal recessive polycystic kidney disease [PDF]
American Journal of Obstetrics and Gynecology, 2021 Kate Swanson
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Clinical and genetic characteristics of autosomal recessive polycystic kidney disease in Oman
BMC Nephrology, 2020 Background There is a high prevalence of rare genetic disorders in the Middle East, and their study provides unique clinical and genetic insights. Autosomal recessive polycystic kidney disease (ARPKD) is one of the leading causes of kidney and liver ...
Intisar Al Alawi +5 more
doaj +2 more sources