Results 91 to 100 of about 2,428 (197)

Molecular and cellular pathogenesis of autosomal recessive polycystic kidney disease

Brazilian Journal of Medical and Biological Research, 2006
Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disease characterized by a malformation complex which includes cystically dilated tubules in the kidneys and ductal plate malformation in the liver.
L.F. Menezes, L.F. Onuchic
doaj  

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

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   +1 more source

Phenotypic analysis of conditionally immortalized cells isolated from the BPK model of ARPKD

, 2001
To study the pathophysiology of autosomal recessive polycystic kidney disease (ARPKD), we sought to develop conditionally immortalized control and cystic murine collecting tubule (CT) cell lines.
Sharon Chang, Katherine MacRae Dell, William E. Sweeney, Cathleen R. Carlin, Linda Kusner, Lidia Futey, Calvin U. Cotton, Ellis D. Avner   +7 more
core   +1 more source

A novel PKHD1 mutation identified in a family affected by ARPKD Ling Hou, Yue Du, Chengguang Zhao, Yubin Wu

, 2018
Objective Autosomal recessive polycystic kidney disease (ARPKD) is a rare inherited renal cystic disease involving multiple organs. It is caused by mutations in the PKHD1 gene.
Ling Hou, Yubin Wu, Yue Du, Chengguang Zhao   +3 more
core   +1 more source

Signifance of Liver Ductal Plate Malformation in Differential Diagnosis of Autosomal Recessive Polycystic Kidney Disease: An Autopsy Case

Çukurova Üniversitesi Tıp Fakültesi Dergisi, 2015
Cystic renal diseases are a group of disorders that cause neonatal deaths. Autosomal recessive polycystic kidney disease (ARPKD) is a rare entity which may be associated with liver disorders.
Kivilcim Eren Erdogan, Sevil Karabag, seyda Erdogan, Figen Doran   +3 more
doaj  

Renal cystic disease (ADPKD and ARPKD) [PDF]

Nephrology Dialysis Transplantation, 2002
Anna-Maria, Nahm, Daniel Ernesto, Henriquez, Eberhard, Ritz   +2 more
openaire   +2 more sources

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

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   +1 more source

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

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   +1 more source

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

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   +1 more source

Caroli's Disease: Current Knowledge of Its Biliary Pathogenesis Obtained from an Orthologous Rat Model

International Journal of Hepatology, 2012
Caroli's disease belongs to a group of hepatic fibropolycystic diseases and is a hepatic manifestation of autosomal recessive polycystic kidney disease (ARPKD).
Yasunori Sato, Xiang Shan Ren, Yasuni Nakanuma   +2 more
doaj   +1 more source