Results 11 to 20 of about 2,905 (217)

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

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   +3 more sources

The Role of Angiotensin-II Infusion in an Infant With Autosomal Recessive Polycystic Kidney Disease Postbilateral Nephrectomies and Refractory Hypotension in the Neonatal Period [PDF]

Case Reports in Nephrology
Autosomal recessive polycystic kidney disease (ARPKD) is a form of hereditary cystic disease with a highly variable phenotypic expression that ultimately leads to chronic kidney disease.
Ana Nevarez Gilbert, Adrianne Rahde Bischoff, Kyle Merrill   +2 more
doaj   +3 more sources

Rete del Ma.Re. 2023… ciak ARPKD: sorelle a confronto

Giornale di Clinica Nefrologica e Dialisi, 2023
Luisa Sternfeld Pavia
semanticscholar   +5 more sources

Genetic landscape and clinical outcomes of autosomal recessive polycystic kidney disease in Kuwait [PDF]

Heliyon
Background: Autosomal recessive polycystic kidney disease (ARPKD), a rare genetic disorder characterized by kidney cysts, shows complex clinical and genetic heterogeneity.
Mariam E. Alhaddad, Anwar Mohammad, Khadija M. Dashti, Sumi Elsa John, Yousif Bahbahani, Mohamed Abu-Farha, Jehad Abubaker, Thangavel Alphonse Thanaraj, Laila Bastaki, Fahd Al-Mulla, Mohammad Al-Ali, Hamad Ali   +11 more
doaj   +2 more sources

Generation of an induced pluripotent stem cell line (DHMCi006-A) from a patient with autosomal recessive polycystic kidney disease (ARPKD) carrying a compound heterozygous missense mutation in the fibrocystin encoding PKHD1 gene

Stem Cell Research, 2021
Mutations in the PKHD1 gene, encoding for the ciliary protein fibrocystin, play a major role in the cystogenesis in autosomal recessive polycystic kidney disease (ARPKD), a severe pediatric kidney disorder. Peripheral blood mononuclear cells (PBMCs) from
Theresa Leonie Fluhr, Mansoureh Tabatabaeifar, Hanna Syring, Gudrun Göhring, Franz Schaefer, Sabine Jung-Klawitter   +5 more
doaj   +2 more sources

Prostatic cyst in autosomal recessive polycystic kidney disease: A case presentation and literature review [PDF]

Urology Case Reports
Prostatic cysts are common in the adult male population with intervention of these cysts typically reserved for symptomatic patients. However, current literature is limited on the diagnosis and management of prostatic cysts in the pediatric population ...
Ketty Bai, Niccola B. Lynch, Christina P. Carpenter   +2 more
doaj   +2 more sources

Pathogenic relationship between phenotypes of ARPKD and novel compound heterozygous mutations of PKHD1 [PDF]

Frontiers in Genetics
Background To investigate whether the novel mutation of PKHD1 could cause polycystic kidney disease by affecting splicing with a recessive inheritance pattern.
Xinrong Zhang, Jiebin Wu, Jianteng Zhou, Jie Liang, Yu Han, Yunmeng Qi, Zhu Tao, Dejian Yuan, Zuobin Zhu, Jingfang Zhai   +9 more
openalex   +2 more sources

A case report of autosomal recessive polycystic kidney disease with noncompaction of ventricular myocardium: coincidence or different manifestations of ciliopathy? [PDF]

BMC Nephrology
Background Autosomal recessive polycystic kidney disease (ARPKD) is a rare inherited cystic disease characterized by bilateral renal cyst formation and congenital liver fibrosis.
Weiran Zhou, Qingxia Du, Qinghua Liu, Xiaofang Liu, Lei Li, Hongxia Zhang   +5 more
doaj   +2 more sources

Identification of Pathogenic PKHD1 Variants in Infants with Autosomal Recessive Polycystic Kidney Disease from the Dhofar Region, Oman [version 1; peer review: 2 approved] [PDF]

F1000Research
Background Autosomal recessive polycystic kidney disease (ARPKD) is a rare, inherited disorder primarily affecting the kidneys and liver. Disease-causing variants in PKHD1 lead to a disruption of the encoded protein fibrocystin/polyductin.
Maha Al Awadi, Fatma Al Awaid, Joshua Pillai, Matthew Sampson, Juliana E. Arcila Galvis, Ashwaq Al Maimani, Zainab Al Hashmi, John A. Sayer, Intisar Al Alawi   +8 more
doaj   +2 more sources

A rare cause of echogenic kidneys with oligohydramnios in the fetus: report of two different cases [PDF]

BMC Pregnancy and Childbirth
Background Prenatal ultrasound findings of fetal bilateral echogenic kidneys accompanied by oligohydramnios can be highly stressful for both pregnant women and physicians.
Tim Phetthong, Krit Achaloetvaranon, Sanpon Diawtipsukon   +2 more
doaj   +2 more sources