Results 1 to 10 of about 240 (89)

Prenatal Ultrasound Diagnostics of Autosomal Recessive Polycystic Kidney Disease in Fetus: Clinical Case

open access: yesВопросы 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
doaj   +1 more source

Polycystic Kidney Disease Drug Development: A Conference Report

open access: yesKidney Medicine, 2023
Autosomal dominant polycystic kidney disease (ADPKD) is part of a spectrum of inherited diseases that also includes autosomal recessive polycystic kidney disease, autosomal dominant polycystic liver disease, and an expanding group of recessively ...
Max C. Liebau   +4 more
doaj   +1 more source

AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE

open access: yesSlovenska 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
doaj   +1 more source

Improved Structure and Function in Autosomal Recessive Polycystic Rat Kidneys with Renal Tubular Cell Therapy. [PDF]

open access: yesPLoS 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
doaj   +1 more source

Polycystic liver disease: an overview of clinical manifestations, diagnosis, and treatment [PDF]

open access: yesKosin 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
doaj   +1 more source

Autosomal recessive polycystic kidney disease: Case report [PDF]

open access: yesSrpski 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
doaj   +1 more source

Reverse Phenotyping Maternal Cystic Kidney Disease by Diagnosis in a Newborn: Case Report and Literature Review on Neonatal Cystic Kidney Diseases

open access: yesActa 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
doaj   +1 more source

Caroli′s syndrome in a post renal transplant patient: Case report and review of the literature

open access: yesThe 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
doaj   +1 more source

Fetal polycystic kidney disease: Pathological overview

open access: yesJournal of the Scientific Society, 2013
Polycystic kidney disease is a rare developmental anomaly inherited as autosomal dominant or autosomal recessive. It is characterized by cystic dilatation of the collecting ducts frequently associated with hepatic involvement and progression to renal ...
Sunita B Patil   +3 more
doaj   +1 more source

A human multi-lineage hepatic organoid model for liver fibrosis

open access: yesNature 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
doaj   +1 more source

Home - About - Disclaimer - Privacy