Results 11 to 20 of about 656,619 (173)

Caroli disease associated with autosomal recessive polycystic kidney disease: CT imaging features of a case report [PDF]

Radiology Case Reports
Caroli disease (CD) is a rare congenital hepatobiliary disorder characterized by multifocal segmental dilatation of the intrahepatic bile ducts, which may involve the entire liver or only a specific region.
Mohammad Tahir Aien, MD, Hashmatullah Osmani, MD, Mohammad Iqbal Haqyar, MD   +2 more
doaj   +3 more sources

Management of delivery of a fetus with autosomal recessive polycystic kidney disease: a case report of abdominal dystocia and review of the literature

Journal of Medical Case Reports, 2019
Background Autosomal recessive renal polycystic kidney disease occurs in 1 in 20,000 live births. It is caused by mutations in both alleles of the PKHD1 gene.
Sarah Belin, Cristina Delco, Paloma Parvex, Sylviane Hanquinet, Siv Fokstuen, Begoña Martinez de Tejada, Isabelle Eperon   +6 more
doaj   +2 more sources

Prenatal MR imaging features of Caroli syndrome in association with autosomal recessive polycystic kidney disease

Radiology Case Reports, 2019
Caroli syndrome, which is characterized by saccular and fusiform dilatation of the biliary ducts, is usually observed in association with autosomal recessive polycystic kidney disease (ARPKD).
Amanda Rivas, Monica Epelman, MD, Enrico Danzer, MD, N. Scott Adzick, MD, Teresa Victoria, MD, PhD   +4 more
doaj   +2 more sources

Broadening horizons: Pathogenesis and therapeutics of renal ciliopathies [PDF]

Journal of Cell Communication and Signaling, Volume 20, Issue 3, September 2026.
This review elucidates the molecular mechanisms and aberrant signaling pathways in renal ciliopathies, links genetic heterogeneity to clinical phenotypes, and lays a theoretical basis for prenatal diagnosis and novel therapies. Abstract Renal ciliopathies encompass a spectrum of genetic disorders arising from structural or functional impairments of ...
Qiaowei Zhang, Shuwen Xue, Zhi Gao, Panlai Shi, Li Wang, Qi Feng, Xiangdong Kong, Xiaofan Zhu   +7 more
wiley   +2 more sources

Renal lymphangiomatosis, a rare differential diagnosis for autosomal recessive polycystic kidney disease in pediatric patients

Radiology Case Reports, 2017
Renal lymphangiomatosis is a rare, benign malformation, characterized by developmental malformation of the perirenal, peripelvic, and intrarenal lymphatics.
Amna A. Kashgari, MD, Nabil Ozair, MD, Amin Al Zahrani, MD, Mohammed O. Al Otibi, MD, Khalid Al Fakeeh, MD   +4 more
doaj   +2 more sources

A proposed classification for standardized reporting of liver disease in children with autosomal recessive polycystic kidney disease [PDF]

JPGN Rep
JPGN Reports, Volume 7, Issue 3, Page 477-478, August 2026.
Kavya Kurkal, Girish L. Gupte
wiley   +2 more sources

Polycystic kidney disease: inheritance, pathophysiology, prognosis, and treatment

International Journal of Nephrology and Renovascular Disease, 2010
Christian R Halvorson1, Matthew S Bremmer1, Stephen C Jacobs11Department of Surgery, University of Maryland School of Medicine, Baltimore, MD, USAAbstract: Both autosomal dominant and recessive polycystic kidney disease are conditions with severe ...
Christian R Halvorson, Matthew S Bremmer, Stephen C Jacobs   +2 more
doaj   +1 more source

Prenatal exome sequencing of fetuses with central nervous system anomalies based on prenatal ultrasound and magnetic resonance imaging diagnosis: A retrospective cohort study with a systematic review and meta‐analysis [PDF]

Acta Obstetricia et Gynecologica Scandinavica, Volume 105, Issue 10, Page 1950-1964, October 2026.
Prenatal exome sequencing significantly improves diagnostic yield over chromosomal microarray analysis for fetal CNS abnormalities, with a diagnostic yield of 16% in our cohort and 27% in the meta‐analysis. Diagnostic yields vary across different phenotypes. Abstract Introduction Fetal central nervous system (CNS) abnormalities have diverse etiologies,
Jia Yao, Yan Wang, Gang Li, Zhitao Zhang, Yuan Lv, Lizhu Chen   +5 more
wiley   +2 more sources

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   +1 more source

Autosomal recessive polycystic kidney disease: mapping to chromosomal region of 6p21-cen in a Turkish child

The Turkish Journal of Pediatrics, 1998
Autosomal recessive polycystic kidney disease (ARPCD) is a congenital kidney disease with severe prognosis. We present a male infant who was diagnosed prenatally by ultrasonography. He died at two months of age in a septic stage.
N Beşbaş, S Ozen, U Saatçi, M Cağlar, G Mucher, K Zerres   +5 more
doaj   +2 more sources