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Вопросы современной педиатрии, 2022 Background. Autosomal recessive polycystic kidney disease is a rare congenital anomaly with poor prognosis. It characterized by the development of cysts in kidneys parenchyma, secondary dilatation, and hyperplasia of normally formed collecting tube in ...
Nodira M. Normuradova +1 more
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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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Improved Structure and Function in Autosomal Recessive Polycystic Rat Kidneys with Renal Tubular Cell Therapy. [PDF]
PLoS ONE, 2015 Autosomal recessive polycystic kidney disease is a truly catastrophic monogenetic disease, causing death and end stage renal disease in neonates and children.
K J Kelly +6 more
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An Empirical Biomarker-based Calculator for Autosomal Recessive Polycystic Kidney Disease - The Nieto-Narayan Formula [PDF]
, 2016 Autosomal polycystic kidney disease (ARPKD) is associated with progressive enlargement of the kidneys fuelled by the formation and expansion of fluid-filled cysts.
Goldberg, Itzhak D. +3 more
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Polycystic liver disease: an overview of clinical manifestations, diagnosis, and treatment [PDF]
Kosin Medical Journal, 2023 Polycystic liver disease (PLD) is a hereditary disease characterized by the presence of 20 or more liver cysts. It is classified into three types: isolated autosomal dominant PLD, PLD with autosomal dominant polycystic kidney disease, and PLD with ...
Joonho Jeong, Hyun Joon Park
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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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Acta Medica Lituanica, 2021 Kidney cysts are the most common kidney lesion, while congenital kidney cysts are mostly found in pediatric population. Neonatal kidney cysts can develop due to fetal malformations, rare genetic disorders or can be acquired which is very rare.
Dovilė Ruzgienė +4 more
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Caroli′s syndrome in a post renal transplant patient: Case report and review of the literature
The Saudi Journal of Gastroenterology, 2012 Caroli′s syndrome is characterized by bile duct ectasia in association with hepatic fibrosis. It is usually transmitted in an autosomal recessive fashion and has been well documented to be associated with autosomal recessive polycystic kidney disease and
Muhammad Z Bawany +2 more
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A systems-biology approach to understanding the ciliopathy disorders. [PDF]
, 2011 'Ciliopathies' are an emerging class of genetic multisystemic human disorders that are caused by a multitude of largely unrelated genes that affect ciliary structure/function.
Gleeson, Joseph G, Lee, Ji Eun
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Cystic kidney diseases: many ways to form a cyst [PDF]
, 2012 Renal cysts are a common radiological finding in both adults and children. They occur in a variety of conditions, and the clinical presentation, management, and prognosis varies widely.
Loftus, H., Ong, A.C.M.
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