Results 81 to 90 of about 2,905 (217)

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

Use of patient derived urine renal epithelial cells to confirm pathogenicity of PKHD1 alleles

BMC Nephrology, 2020
Background PKHD1 is the main genetic cause of autosomal recessive polycystic kidney disease (ARPKD), a hereditary hepato-renal fibrocystic disorder which is the most important cause of end-stage renal disease during early childhood.
Elisa Molinari, Shalabh Srivastava, Rebecca M. Dewhurst, John A. Sayer   +3 more
doaj   +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

Adult Renal Cysts: When to Intervene?

Trends in Urology &Men's Health, Volume 16, Issue 1, February 2025.
ABSTRACT Renal cysts are common in the adult population and can be challenging to decide which need intervention or follow‐up. Assessment based on history, examination and cross‐sectional imaging will determine the disposition for patients based on their risk of malignancy and symptoms. The Bosniak Classification is used to stratify risk of malignancy,
Madeleine Bain, Adib Rahman, Nicholas Rukin, Devang Desai   +3 more
wiley   +1 more source

Rationale, design and objectives of ARegPKD, a European ARPKD registry study [PDF]

BMC Nephrology, 2015
BMC nephrology 16(1), 16-22 (2015).
Ebner, Kathrin, Feldkoetter, Markus, Ariceta, Gema, Bergmann, Carsten, Buettner, Reinhard, Doyon, Anke, Duzova, Ali, Goebel, Heike, Haffner, Dieter, Hero, Barbara, Hoppe, Bernd, Illig, Thomas, Jankauskiene, Augustina, Klopp, Norman, König, Jens, Litwin, Mieczyslaw, Mekahli, Djalila, Ranchin, Bruno, Sander, Anja, Testa, Sara, Weber, Lutz Thorsten, Wicher, Dorota, Yuzbasioglu, Ayse, Zerres, Klaus, Dötsch, Jörg, Schaefer, Franz, Liebau, Max Christoph, ESCAPE Study Group, GPN Study Group   +28 more
openaire   +7 more sources

A Novel NPHP5 Gene Mutation in Three Siblings With Nephronophthisis Without Retinitis Pigmentosa: A Case Report

Case Reports in Genetics, Volume 2025, Issue 1, 2025.
Nephronophthisis (NPHP) is a hereditary renal disorder characterized by the progression to end‐stage renal disease (ESRD) at a young age. Our understanding of this disorder continues to improve as we identify more genes and gene variants associated with NPHP.
Randah Abdullah Dahlan, Roaa Hani Fairoozy, Balraj Mittal   +2 more
wiley   +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

TRPV4 functional status in cystic cells regulates cystogenesis in autosomal recessive polycystic kidney disease during variations in dietary potassium

Physiological Reports, 2023
Mechanosensitive TRPV4 channel plays a dominant role in maintaining [Ca2+]i homeostasis and flow‐sensitive [Ca2+]i signaling in the renal tubule. Polycystic kidney disease (PKD) manifests as progressive cyst growth due to cAMP‐dependent fluid secretion ...
Kyrylo Pyrshev, Anna Stavniichuk, Viktor N. Tomilin, Naghmeh Hassanzadeh Khayyat, Guohui Ren, Mariya Kordysh, Oleg Zaika, Mykola Mamenko, Oleh Pochynyuk   +8 more
doaj   +1 more source

Clinical courses and complications of young adults with Autosomal Recessive Polycystic Kidney Disease (ARPKD)

Scientific Reports, 2019
Autosomal recessive polycystic kidney disease (ARPKD) is a severe pediatric hepatorenal disorder with pronounced phenotypic variability. A substantial number of patients with early diagnosis reaches adulthood and some patients are not diagnosed until ...
K. Burgmaier, S. Kilian, B. Bammens, T. Benzing, H. Billing, A. Büscher, M. Galiano, F. Grundmann, G. Klaus, D. Mekahli, L. Michel‐Calemard, Gordana Miloševski-Lomić, B. Ranchin, K. Sauerstein, S. Schaefer, R. Shroff, R. Sterenborg, Sarah Verbeeck, L. Weber, Dorota Wicher, E. Wühl, J. Dötsch, F. Schaefer, M. Liebau   +23 more
semanticscholar   +1 more source

The Evolving Experience and Outcomes of Pediatric Kidney Transplant in Abu Dhabi, UAE (2010–2024)

International Journal of Nephrology, Volume 2025, Issue 1, 2025.
Background Kidney transplant is acknowledged as the treatment of choice for end‐stage renal disease (ESRD). This study reports on the outcome of pediatric renal transplant at a tertiary hospital in Abu Dhabi. Methods It is a retrospective study of all pediatric renal transplants performed at a single designated pediatric center between February 2010 ...
Ela Beyyumi, Watfa Al Dhaheri, Niaz Ahmad, Muhammad Badar Zaman, Eihab Al Khasawneh, Tej Mattoo   +5 more
wiley   +1 more source