Results 61 to 70 of about 6,536 (205)

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  

A clinician's guide to the diagnosis and management of kidney cysts

Internal Medicine Journal, Volume 55, Issue 10, Page 1752-1756, October 2025.
Abstract Kidney cysts are frequently encountered as incidental findings on imaging studies and are typically benign in nature. However, certain cysts exhibit characteristics that may predispose them to malignant transformation. The Bosniak classification, based on contrast‐enhanced computed tomography or magnetic resonance imaging, offers a systematic ...
Kate Brotherton, Bobby Chacko
wiley   +1 more source

A Longitudinal Case Study of Renal Cyst Progression and Regression in Trisomy 13

Clinical Case Reports, Volume 13, Issue 9, September 2025.
Multiple T2‐weighted high‐signal‐intensity structures were observed in both kidneys accompanied by bilateral renal enlargement in a male neonate with trisomy 13. ABSTRACT Trisomy 13 is a chromosomal disorder frequently associated with congenital anomalies, including polycystic kidney disease (PKD).
Fumiko Yamabe, Takahiro Shindo, Kentaro Haneda, Yoshiyuki Namai, Yutaka Harita   +4 more
wiley   +1 more source

Treatment of Inborn Errors by Product Replacement: The Example of Inborn Errors of Bile Acid Synthesis

Journal of Inherited Metabolic Disease, Volume 48, Issue 5, September 2025.
ABSTRACT Many inborn errors of metabolism affect pathways involved in the synthesis of a metabolite that has an important biochemical or physiological function, and adverse effects of the disorder can be attributed to the lack of this metabolite. Thus, there is the opportunity for treatment by ‘product replacement’. One of the disorders in the pathways
Peter T. Clayton, Rohit Hirachan, Elaine Murphy   +2 more
wiley   +1 more source

Diagnostic value of fetal MRI in evaluating fetal urinary anomalies

The Egyptian Journal of Radiology and Nuclear Medicine, 2015
Purpose: To detect the accuracy of fetal MRI in diagnosing urinary tract anomalies in comparison with ultrasonographic findings and fetal outcome. Methods: We examined 30 fetuses with sonographically suspected congenital urinary tract anomalies by 2D/3D ...
Noha Hosam El Din Behairy, Lamiaa Adel Salah El Din, Naglaa Mohamed Fahmy Hanoun, Maged Abd El Raof, Mohamed Abd El Kader Ali   +4 more
doaj   +1 more source

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

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

End-Stage Kidney Failure in Oman: An Analysis of Registry Data with an Emphasis on Congenital and Inherited Renal Diseases

International Journal of Nephrology, 2017
Globally, end-stage kidney disease (ESKD) is a huge burden on health care systems. The aims of this study were to perform a comprehensive epidemiological and etiological report of ESKD patients commencing RRT in Oman with an emphasis on genetic causes ...
Intisar Al Alawi, Issa Al Salmi, Adhra Al Mawali, Yacoub Al Maimani, John A. Sayer   +4 more
doaj   +1 more source

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

Diagnosis and Management of Hepatobiliary Complications in Autosomal Recessive Polycystic Kidney Disease

Frontiers in Pediatrics, 2017
Autosomal recessive polycystic kidney disease (ARPKD) is a congenital hepatorenal fibrocystic disease. The hepatic manifestations of ARPKD can range from asymptomatic to portal hypertension and massively dilated biliary system that results in liver ...
Andrew Wehrman, Alyssa Kriegermeier, Jessica Wen   +2 more
doaj   +1 more source