Results 31 to 40 of about 23,951 (234)
Prenatal diagnosis by ultrasound in pregnancies at risk for autosomal recessive polycystic kidney disease [PDF]
, 1990 In 15 pregnancies at risk of the autosomal recessive type of polycystic kidney disease (ARPKD), there were six recurrences (40%), five of which were diagnosed prenatally between 17 and 26 weeks (mean, 22 weeks).
Niermeijer, M.F. (Martinus) +3 more
core +8 more sources
Pediatric nephrology (Berlin, West), 2022 Impaired kidney concentration capacity is present in half of the patients with autosomal dominant polycystic kidney disease (ADPKD). The kidney concentrating capacity was further impaired within the animal model of autosomal recessive polycystic kidney ...
T. Seeman +6 more
semanticscholar +1 more source
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
doaj +1 more source
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.
core +1 more source
Molecular Pathophysiology of Autosomal Recessive Polycystic Kidney Disease
International Journal of Molecular Sciences, 2021 Autosomal recessive polycystic kidney disease (ARPKD) is a rare disorder and one of the most severe forms of polycystic kidney disease, leading to end-stage renal disease (ESRD) in childhood. PKHD1 is the gene that is responsible for the vast majority of
Adrián Cordido +2 more
semanticscholar +1 more source
Dual mTOR/PI3K inhibition limits PI3K-dependent pathways activated upon mTOR inhibition in autosomal dominant polycystic kidney disease [PDF]
, 2018 Autosomal dominant polycystic kidney disease (ADPKD) is characterized by the development of kidney cysts leading to kidney failure in adulthood. Inhibition of mammalian target of rapamycin (mTOR) slows polycystic kidney disease (PKD) progression in ...
Arcaro, Alexandre +10 more
core +2 more sources
Early clinical management of autosomal recessive polycystic kidney disease
Pediatric nephrology (Berlin, West), 2021 Autosomal recessive polycystic kidney disease (ARPKD) is a rare but highly relevant disorder in pediatric nephrology. This genetic disease is mainly caused by variants in the PKHD1 gene and is characterized by fibrocystic hepatorenal phenotypes with ...
M. Liebau
semanticscholar +1 more source
A human multi-lineage hepatic organoid model for liver fibrosis
Nature 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
Clinical aspects of autosomal recessive polycystic kidney disease [PDF]
, 2010 INTRODUÇÃO: A Doença Renal Policística Autossômica Recessiva (DRPAR) é uma causa importante de morbidade e mortalidade pediátricas, com um espectro variável de manifestações clínicas. MÉTODOS: A apresentação e evolução clínica de 25 pacientes (Pts) foram
DIAS, Natasha Favoretto +3 more
core +2 more sources
Scientific Reports, 2021 Mutation of the Cys1 gene underlies the renal cystic disease in the Cys1cpk/cpk (cpk) mouse that phenocopies human autosomal recessive polycystic kidney disease (ARPKD).
Chaozhe Yang +13 more
semanticscholar +1 more source