Results 101 to 110 of about 4,765 (160)

Pain patterns in patients with polycystic kidney disease [PDF]

, 2004
Pain patterns in patients with polycystic kidney disease.BackgroundPain is a common problem in patients with polycystic kidney disease (PKD), but patterns have not been characterized as to frequency and severity.
Bajwa, Zahid H., Malik, Atif B., Sial, Khuram A., Steinman, Theodore I.   +3 more
core   +1 more source

A Novel NPHP5 Gene Mutation in Three Siblings With Nephronophthisis Without Retinitis Pigmentosa: A Case Report

Case Reports in Genetics, Volume 2025, Issue 1, 2025.
Nephronophthisis (NPHP) is a hereditary renal disorder characterized by the progression to end‐stage renal disease (ESRD) at a young age. Our understanding of this disorder continues to improve as we identify more genes and gene variants associated with NPHP.
Randah Abdullah Dahlan, Roaa Hani Fairoozy, Balraj Mittal   +2 more
wiley   +1 more source

Cystic Kidney Diseases From the Adult Nephrologist’s Point of View

Frontiers in Pediatrics, 2018
Cystic kidney diseases affect patients of all age groups with the onset spanning from prenatal disease to late adulthood. Autosomal-dominant polycystic kidney disease (ADPKD) is by far the most common renal cystic disease.
Roman-Ulrich Müller, Thomas Benzing
doaj   +1 more source

Renal Anomalies [PDF]

, 2017
This chapter is dedicated to the main renal anomalies detectable by ultrasound. Anomalies of the lower urinary tract will be addressed in a separate chapter.
Barbu, Madalina, Cernea, Nicolae, Comanescu, Alexandru Cristian, Comanescu, Maria Cristina, Pana, Razvan Cosmin, Tanase, Florentina   +5 more
core   +2 more sources

Autosomal recessive polycystic kidney disease: late-onset renal enlargement and proteinuria with rare PKHD1 mutation—a case report

Egyptian Journal of Medical Human Genetics
Background Autosomal recessive polycystic kidney disease (ARPKD) is a genetically inherited pediatric disorder. It is caused by a mutation in the PKHD1 gene located on chromosome 6.
Tina Zeraati, Mohammad Reza Abbaszadegan, Anoush Azarfar, Ehsan Ghayoor Karimiani, Malihe Lotfi, Abbas Ali Zeraati   +5 more
doaj   +1 more source

Autosomal recessive polycystic kidney disease: the prototype of the hepato-renal fibrocystic diseases [PDF]

, 2014
Autosomal recessive polycystic kidney disease (ARPKD) is a severe, typically early onset form of renal cystic disease. The care of ARPKD patients has traditionally been the purview of pediatric nephrologists for management of systemic hypertension and ...
Guay-Woodford, Lisa
core   +2 more sources

Genetics of Autosomal Recessive Polycystic Kidney Disease and Its Differential Diagnoses

Frontiers in Pediatrics, 2018
Autosomal recessive polycystic kidney disease (ARPKD) is a hepatorenal fibrocystic disorder that is characterized by enlarged kidneys with progressive loss of renal function and biliary duct dilatation and congenital hepatic fibrosis that leads to portal
Carsten Bergmann, Carsten Bergmann
doaj   +1 more source

A novel PKD1 variant demonstrates a disease-modifying role in trans with a truncating PKD1 mutation in patients with Autosomal Dominant Polycystic Kidney Disease [PDF]

, 2015
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common form of Polycystic Kidney Disease (PKD) and occurs at a frequency of 1/800 to 1/1000 affecting all ethnic groups worldwide.
Al-Mulla, Fahd, Ali, Hamad, Harris, Peter, Hussain, Naser, Kehinde, Elijah, Naim, Medhat, Seaburg, Lauren, Sundsbak, Jamie, Zayed, Mohamed   +8 more
core  

Cholangitis resembling Caroli’s syndrome in a patient with autosomal dominant polycystic kidney disease: Case report

SAGE Open Medical Case Reports
Caroli’s syndrome is a rare autosomal recessive disorder characterized by segmental cystic dilation of the intrahepatic bile ducts and congenital hepatic fibrosis. It is associated with autosomal recessive polycystic kidney disease.
Maha Arkan Khudhair, Rikke Christensen, Anne Skakkebæk, Jakob Grue Graverholt, Anders Bergh Lødrup   +4 more
doaj   +1 more source

Putative roles of cilia in polycystic kidney disease [PDF]

, 2011
The last 10years has witnessed an explosion in research into roles of cilia in cystic renal disease. Cilia are membrane-enclosed finger-like projections from the cell, usually on the apical surface or facing into a lumen, duct or airway.
Jenkins, Dagan, Winyard, Paul
core   +1 more source