Results 71 to 80 of about 2,428 (197)

Reduction of elevated Gli3 does not alter the progression of autosomal recessive polycystic kidney disease

Physiological Reports
Polycystic kidney diseases (PKD) are genetic disorders which disrupt kidney architecture and function. Autosomal recessive PKD (ARPKD) is a rare form of PKD, caused by mutations in PKHD1, and clinically more severe than the more common autosomal dominant
Lauren G. Russell, Maria Kolatsi‐Joannou, Laura Wilson, Jennifer C. Chandler, Nuria Perretta Tejedor, Georgie Stagg, Karen L. Price, Christopher J. Rowan, Tessa Crompton, Norman D. Rosenblum, Paul J. D. Winyard, David A. Long   +11 more
doaj   +1 more source

A teenage patient with autosomal recessive polycystic kidney disease, a splenorenal shunt, and congenital hepatic fibrosis: a case report

Brazilian Journal of Nephrology, 2018
A 16-year-old female patient previously diagnosed with autosomal recessive polycystic kidney disease (ARPKD) presented with acute bilateral pneumonia, upper gastrointestinal bleeding caused by ruptured esophageal varices, ascites, and lower limb edema ...
Vinicius Danieli Scarioti, Lucia Tabim de Oliveira, Anye Caroline Mattiello, Nayara dos Santos Gomes   +3 more
doaj   +1 more source

Autosomal Recessive Polycystic Kidney Disease (ARPKD)

Medical Image Database, 2018
Autosomal recessive polycystic kidney disease (ARPKD) is an important inherited cause of chronic kidney disease with an estimated incidence of 1 in 20,000 live births [1-3]. Mutations of the PKHD1 (polycystic kidney and hepatic disease 1) gene located on chromosome 6p12, are responsible for the entire spectrum of ARPKD [2].
Mariana Costache, Maria Sajin, Dumitru Vasile Adrian   +2 more
openaire   +1 more source

Diagnostic Yield and Clinical Impact of a Small Genetic Panel for Kidney Disease: A Multicenter, Retrospective European Study

Clinical Genetics, Volume 109, Issue 1, Page 136-140, January 2026.
In a multicenter study of 692 patients with kidney disease, a 44‐gene panel achieved a 36% diagnostic yield. The 36% yield was not significantly lower than with larger panels or whole‐exome sequencing. A post hoc machine‐learning model identified key predictors to stratify patients into four risk bins (11%–74% yield), enabling more cost‐effective ...
Silvia Giovanella, Antonio Miguel Poyatos‐Andújar, Maria Mar Aguila Garcia, Almudena Avila‐Fernandez, Ana Bustamante‐Aragonés, Carmen Ayuso, Antonio Percesepe, Davide Martorana, Maria Ferri, Alessandra Terracciano, Laura Massella, Johanna Chester, Francesca Testa, Giulia Ligabue, Marco Ferrarini, Dino Gibertoni, Gaetano Alfano, Elena Tenedini, Lucia Artuso, Marco Marino, Olga Calabrese, Enrico Tagliafico, Riccardo Magistroni   +22 more
wiley   +1 more source

Design of two ongoing clinical trials of tolvaptan in the treatment of pediatric patients with autosomal recessive polycystic kidney disease

BMC Nephrology, 2023
Purpose Autosomal recessive polycystic kidney disease (ARPKD) is a hereditary condition characterized by massive kidney enlargement and developmental liver defects.
Djalila Mekahli, Max C. Liebau, Melissa A. Cadnapaphornchai, Stuart L. Goldstein, Larry A. Greenbaum, Mieczyslaw Litwin, Tomas Seeman, Franz Schaefer, Lisa M. Guay-Woodford   +8 more
doaj   +1 more source

The Role of Keratin in the Mechanisms of Kidney Diseases

BioMed Research International, Volume 2026, Issue 1, 2026.
Kidney disease remains a leading cause of global mortality, with its prevalence continuing to rise. Despite advances in understanding glomerular pathologies and acute kidney injury, the progression to irreversible renal failure and its associated systemic complications represent a major unresolved challenge.
Shitian Che, Xiaolu Huang, Shuxiang Yan, Baiyu Feng, Lijun Yin, Anqun Chen, Yoel A. Klug   +6 more
wiley   +1 more source

Kombinierte, sequenzielle und isolierte Leber-Nieren-Transplantation bei autosomal-rezessiver polyzystischer Nierenerkrankung (ARPKD) – Daten aus dem ARPKD Register ARegPKD [PDF]

Die autosomal-rezessive polyzystische Nierenerkrankung (ARPKD) ist eine schwerwiegende hereditäre Erkrankung, die mit der Entwicklung einer chronischen Nierenerkrankung sowie einer kongenitalen hepatischen Fibrose mit der Folge einer portalen Hypertonie ...
Wehn, Leonie Marie
core   +1 more source

Prenatal sonographic diagnosis of autosomal recessive polycystic kidney disease (arpkd) during the early second trimester

, 1995
Autosomal recessive polycystic kidney disease (ARPKD) is a rare hereditary disease with a high neonatal mortality. Currently, prenatal diagnosis is possible only during the second half of pregnancy, when bilaterally enlarged, echogenic kidneys are ...
Huch, A, Wisser, Josef; https://orcid.org/, Leumann, E, Schinzel, Albert, Hebisch, G, Zerres, K, Stallmach, T, Froster, Ursula   +7 more
core   +1 more source

PKHD1 gene mutation analysis in two families of perinatal stage autosomal recessive polycystic kidney disease

Linchuang shenzangbing zazhi
Objective To analyze genetic variation in two cases of autosomal recessive polycystic kidney disease （ARPKD） and provide theoretical rationales for its early diagnosis， treatment， genetic counseling and prenatal diagnosis.
Lan Zeng, Qi-yan Wang, Yi Deng, Dan-ni Wang, Shu-yao Zhu, Jin Wang   +5 more
doaj   +1 more source

Congenital hepatic fibrosis in the Franches-Montagnes horse is associated with the polycystic kidney and hepatic disease 1 (PKHD1) gene. [PDF]

PLoS ONE, 2014
Congenital hepatic fibrosis has been described as a lethal disease with monogenic autosomal recessive inheritance in the Swiss Franches-Montagnes horse breed.
Michaela Drögemüller, Vidhya Jagannathan, Monika M Welle, Claudia Graubner, Reto Straub, Vinzenz Gerber, Dominik Burger, Heidi Signer-Hasler, Pierre-André Poncet, Stéphane Klopfenstein, Ruedi von Niederhäusern, Jens Tetens, Georg Thaller, Stefan Rieder, Cord Drögemüller, Tosso Leeb   +15 more
doaj   +1 more source