Results 51 to 60 of about 2,905 (217)

A novel PKHD1 splicing variant identified in a fetus with autosomal recessive polycystic kidney disease

Frontiers in Genetics, 2023
Objective: Variants of the polycystic kidney and hepatic disease 1 (PKHD1) gene are associated with autosomal recessive polycystic kidney disease (ARPKD).
Mingzhu Miao, Liqun Feng, Jue Wang, Cheng Xu, Xiaotian Su, Guoying Zhang, Shoulian Lu   +6 more
doaj   +1 more source

Risk Factors for Neurocognitive Functioning in Children with Autosomal Recessive Polycystic Kidney Disease

Frontiers in Pediatrics, 2017
This mini review provides an overview of the issues and challenges inherent in autosomal recessive polycystic kidney disease (ARPKD), with a particular focus on the neurological factors and neurocognitive functioning of this population.
Stephen R. Hooper
doaj   +1 more source

Ruptured intracranial aneurysm and recessive polycystic kidney Disease: A Rare Association

Saudi Journal of Kidney Diseases and Transplantation, 2019
Autosomal recessive polycystic kidney disease (ARPKD) is the most common childhood-onset ciliopathy. Intracranial aneurysms (ICA) are a serious complication of autosomal dominant polycystic kidney disease (ADPKD).
Imed Helal, Insaf Handous, Meriam Khadhar, Hamida Bezzine, Fethi Ben Hamida, Taib Ben Abdallah   +5 more
doaj   +1 more source

Emerging Therapies for Childhood Polycystic Kidney Disease

Frontiers in Pediatrics, 2017
Cystic kidney diseases comprise a varied collection of hereditary disorders, where renal cysts comprise a major element of their pleiotropic phenotype.
William E. Sweeney, Ellis D. Avner
doaj   +1 more source

Early childhood height-adjusted total kidney volume as a risk marker of kidney survival in ARPKD

Scientific Reports, 2021
Autosomal recessive polycystic kidney disease (ARPKD) is characterized by bilateral fibrocystic changes resulting in pronounced kidney enlargement. Impairment of kidney function is highly variable and widely available prognostic markers are urgently ...
K. Burgmaier, S. Kilian, K. Arbeiter, B. Atmis, A. Büscher, Ute Derichs, I. Dursun, A. Duzova, L. Eid, M. Galiano, M. Gessner, I. Gokce, Karsten Haeffner, N. Hooman, A. Jankauskienė, F. Körber, G. Longo, L. Massella, D. Mekahli, Gordana Miloševski-Lomić, H. Nalcacioglu, R. Rus, R. Shroff, S. Stabouli, L. Weber, S. Wygoda, A. Yılmaz, K. Zachwieja, I. Zagożdżon, J. Dötsch, F. Schaefer, M. Liebau, Kathrin Samuel Klaus Bahriye Anja Ute Ismail Ali Loai Akra Burgmaier Kilian Arbeiter Atmis Büscher Derichs Du, M. Liebau, A. Potemkina, N. Ranguelov, L. Collard, Aurélie De Mul, Markus Feldkoetter, T. Seeman, J. Zieg, J. Thumfart, F. Grundmann, B. Buchholz, L. Pape, O. Gross, L. Patzer, Raphael Schild, D. Haffner, Wanja Bernhardt, E. Wuehl, M. Henn, J. Halbritter, G. Klaus, F. Lechner, Bärbel Lange-Sperandio, B. Uetz, M. Benz, J. König, H. Staude, D. Wurm, M. Bald, Neveen A. Soliman, G. Ariceta, Juan David Gutiérrez Rodríguez, F. de la Cerda Ojeda, J. Harambat, B. Ranchin, M. Fila, C. Dossier, O. Boyer, M. Marlais, F. Papachristou, F. Mencarelli, A. Mastrangelo, L. Murer, F. Emma, Dovilė Ruzgienė, K. Taranta-Janusz, I. Balasz-Chmielewska, M. Miklaszewska, Małgorzata Stańczyk, P. Sikora, Claudia Kowalewska, M. Szczepańska, A. Teixeira, O. Dunand, A. Rãchişan, D. Paripović, L. Prikhodina, H. Jilani, A. Bayazıt, A. Soylu, C. Candan, L. Sever, S. Emre, Neslihan Çiçek, Nurver Akıncı, S. Mir, H. Poyrazoğlu, Y. Tabel, H. Nalcacioglu   +101 more
semanticscholar   +1 more source

Autosomal recessive polycystic kidney disease (ARPKD) - antenatal MRI

Bahman Rasuli
openalex   +2 more sources

Clinical and genetic characteristics of autosomal recessive polycystic kidney disease in Oman

BMC Nephrology, 2020
Background There is a high prevalence of rare genetic disorders in the Middle East, and their study provides unique clinical and genetic insights. Autosomal recessive polycystic kidney disease (ARPKD) is one of the leading causes of kidney and liver ...
Intisar Al Alawi, Elisa Molinari, Issa Al Salmi, Fatma Al Rahbi, Adhra Al Mawali, John A. Sayer   +5 more
doaj   +1 more source

A Rare Diagnosis of Caroli Syndrome in a Young Patient [PDF]

Clin Case Rep
ABSTRACT Caroli syndrome is a rare but serious congenital disorder associated with portal hypertension and polycystic kidney disease. Early diagnosis via imaging, particularly MRCP, is crucial to prevent life‐threatening complications such as cholangitis and biliary cirrhosis.
Karimzadeh‐Soureshjani E, Pourhasan F, Simab P, Shojaei S, Mohammadian Y.   +4 more
europepmc   +2 more sources

Autosomal recessive polycystic kidney disease (ARPKD) in fetus: Autopsy based approach

Indian Journal of Pathology and Oncology, 2022
Polycystic kidney disease is a rare developmental anomaly inherited as Autosomal dominant or recessive. Autosomal recessive polycystic kidney disease (ARPKD) is an intractable cystic renal disease that results in chronic renal failure.
Shushruta Mohanty, Lipika Behera, Shilpa Padhi, S. Acharya   +3 more
semanticscholar   +1 more source

Autosomal Recessive Polycystic Kidney Disease (ARPKD): New Insights from the Identification of the ARPKD Gene, PKHD1 [PDF]

Pediatric Research, 2002
Autosomal Recessive Polycystic Kidney Disease (ARPKD): New Insights from the Identification of the ARPKD Gene ...
openaire   +2 more sources