Results 71 to 80 of about 4,765 (160)

A Challenging Case of Hepatoblastoma Concomitant with Autosomal Recessive Polycystic Kidney Disease and Caroli Syndrome—Review of the Literature

Frontiers in Pediatrics, 2017
We report a rare case of an 18-month-old female with autosomal recessive polycystic kidney disease, Caroli syndrome, and pure fetal type hepatoblastoma. The liver tumor was surgically resected with no chemotherapy given.
Nevil Kadakia, Steven J. Lobritto, Nadia Ovchinsky, Helen E. Remotti, Darrell J. Yamashiro, Darrell J. Yamashiro, Darrell J. Yamashiro, Jean C. Emond, Mercedes Martinez   +8 more
doaj   +1 more source

Effects of sex hormones on fluid and solute transport in Madin-Darby canine kidney cells [PDF]

, 1997
Effects of sex hormones on fluid and solute transport in Madin-Darby canine kidney cells. Polycystic kidney disease progresses more rapidly in men than in women.
Lei, Jun, Neugarten, Joel, Sandhu, Saeed, Silbiger, Sharon R.   +3 more
core   +1 more source

Role of Comprehensive Renal Genetic Testing in Diagnosing a RMND‐1 Mitochondrial Disease in Two Adult Cases Exhibiting Variable Disease Phenotypes

Clinical Case Reports, Volume 13, Issue 4, April 2025.
ABSTRACT RMND1‐related mitochondrial disease is a rare genetic condition that affects multiple organs, including the kidneys. We describe two adult patients whose diagnosis, initiated in childhood, was established through renal gene panel testing, emphasizing the value of genetic testing in uncovering kidney‐related conditions that have a high degree ...
Quinn Stein, Ryan Mascarenhas, Sumit Punj, Maggie Westemeyer, Emily Hendricks, Tessa Pitman, Meg Hager, Nour Al Haj Baddar, Kristen Connors, Alexa Bacher, Robin Larson, Lauren Zec, Jennifer Stoddard   +12 more
wiley   +1 more source

Autosomal Recessive Polycystic Kidney Disease (ARPKD)

Medical Image Database, 2018
Autosomal recessive polycystic kidney disease (ARPKD) is an important inherited cause of chronic kidney disease with an estimated incidence of 1 in 20,000 live births [1-3]. Mutations of the PKHD1 (polycystic kidney and hepatic disease 1) gene located on chromosome 6p12, are responsible for the entire spectrum of ARPKD [2].
Maria Sajin, Dumitru Vasile Adrian, Mariana Costache   +2 more
openaire   +2 more sources

Transplantation in autosomal recessive polycystic kidney disease: liver and/or kidney? [PDF]

Pediatric Nephrology, 2014
Autosomal recessive polycystic kidney disease (ARPKD) is characterized by enlarged kidneys with dilated collecting ducts and congenital hepatic fibrosis. There is a variable rate of progression of kidney and liver disease. Portal hypertension and Caroli's disease occur from liver involvement that contributes to morbidity and mortality. Approximately 40
Jayanthi Chandar, Akin Tekin, Jennifer Garcia, Lydia M. Jorge   +3 more
openaire   +3 more sources

Early clinical management of autosomal recessive polycystic kidney disease [PDF]

Pediatric Nephrology, 2021
AbstractAutosomal recessive polycystic kidney disease (ARPKD) is a rare but highly relevant disorder in pediatric nephrology. This genetic disease is mainly caused by variants in the PKHD1 gene and is characterized by fibrocystic hepatorenal phenotypes with major clinical variability.
openaire   +3 more sources

Rare Combination of Phenotypes of Karyomegalic Interstitial Nephritis and Autosomal Recessive Polycystic Kidney Disease in an Omani Child

Oman Medical Journal
Autosomal recessive polycystic kidney disease is one of the most prevalent inherited cystic kidney diseases in infants and children, common in highly consanguineous societies such as Oman. Karyomegalic interstitial nephritis is a rare cause of hereditary
Intisar Al Alawi, Maryam Al Shehhi, Naifain Al Kalbani, Aliya Al Hosni, Ashwaq Al Mimani, Issa Al Salmi, John A. Sayer   +6 more
doaj   +1 more source

Insulin-like growth factor-1 induces hyperproliferation of PKD1 cystic cells via a Ras/Raf dependent signalling pathway [PDF]

, 2007
Autosomal dominant polycystic kidney disease (ADPKD) largely results from mutations in the PKD1 gene leading to hyperproliferation of renal tubular epithelial cells and consequent cyst formation.
Harris, P.C., Newby, L.J., O'Hare, O.J., Ong, A.C.M., Parker, E., Rossetti, S., Sharpe, C.C., Streets, A.J.   +7 more
core   +1 more source

Systematic Review of Management Strategies for Alport Syndrome: Implications for Male Patients

Health Science Reports, Volume 8, Issue 4, April 2025.
ABSTRACT Background and Aims Alport Syndrome (AS) is a rare genetic disorder characterized by progressive kidney disease, hearing loss, and ocular abnormalities, with an incidence of approximately 1 in 50,000 newborns. Due to the severity of the disease, particularly in males with X‐linked inheritance, this systematic review consolidates current ...
Zouina Sarfraz, Ayesha Khan, Maryyam Liaqat, Aden Khan, Faheem Javad, Meher Saleem, Azza Sarfraz, Musfira Khalid, Muzna Sarfraz, Manish Kc, Omar Irfan   +10 more
wiley   +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