Results 31 to 40 of about 6,536 (205)

Renal cysts in children: a single centre study

Pediatria i Medycyna Rodzinna, 2018
Kidney cysts may be congenital (associated or not with genetic disorders) or rarely acquired. They may be an isolated abnormality or be part of an anomaly syndrome.
Anna Medyńska, Konstancja Fornalczyk, Katarzyna Kiliś-Pstrusińska, Irena Wikiera-Magott, Dominik Kubicki, Danuta Zwolińska   +5 more
doaj   +1 more source

Autosomal Recessive Polycystic Kidney Disease

Subramanian S, Leslie SW, Ahmad T.
europepmc   +2 more sources

Compound heterozygosity of a de novo submicroscopic deletion and an inherited frameshift pathogenic variant in the PKHD1 gene in a fetus with bilaterally enlarged and echogenic kidneys, enlarged abdomen and oligohydramnios

Clinical Case Reports, 2023
We present a fetus with bilaterally enlarged and echogenic kidneys. Prenatal testing detected compound heterozygosity for a 0.676 Mb de novo deletion and an inherited pathogenic variant in PKHD1.
Takuya Sakyu, Samantha R. Stover, Yue Wang, Patricia Ward, Manisha Gandhi, Michael C. Braun, Ignatia B. Van den Veyver, Weimin Bi   +7 more
doaj   +1 more source

Autopsy Report with Clinical and Pathophysiologic Discussion of Autosomal Dominant Adult Polycystic Kidney Disease

Case Reports in Urology, 2014
The average weight of a kidney is approximately 135 gm, measuring on average 10 × 6 × 4 cm. In hereditary conditions, autosomal dominant and autosomal recessive polycystic kidney disease, the shape, size, and the weight can be significantly abnormal ...
Anup Hazra, Richard Siderits, Cheryl Rimmer, Noah Rolleri   +3 more
doaj   +1 more source

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   +1 more source

Type IV choledochal cyst with polycystic kidney disease: a case report

BMC Gastroenterology, 2020
Background Choledochal cysts are divided into 5 types. Physicians believe that Caroli disease (which refers to type V biliary cysts) is a special type of biliary cyst caused by a mutation in the PKHD1 gene and is associated with autosomal recessive ...
Yuxin He, Zhuwen Yu, Weichang Chen
doaj   +1 more source

Autosomal recessive polycystic kidney disease (ARPKD) in a Nigerian newborn: a case report

The Pan African Medical Journal, 2018
Autosomal recessive polycystic kidney disease (ARPKD) is a rare genetic disorder but even rarer in Africans and it is one of the causes of nephropathies in childhood.
Olufunke Bolaji, Olagoke Erinomo, Olufunmilayo Adebara, Julia Okolugbo, Bartholomew Onumajuru, Taiwo Akanni, Olusegun Adebami   +6 more
doaj   +1 more source

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   +1 more source

Caroli′s syndrome with autosomal recessive polycystic kidney disease

Saudi Journal of Kidney Diseases and Transplantation, 2014
Caroli′s syndrome (CS) is a rare congenital disorder characterized by multiple segmental cystic or saccular dilatations of the intrahepatic bile ducts and congenital hepatic fibrosis.
Prithi Shenoy, Syed Ahmed Zaki, Preeti Shanbag, Swapnil Bhongade   +3 more
doaj   +1 more source

Recent Developments in Capillary and Microchip Electroseparations of Peptides (2023–mid 2025)

ELECTROPHORESIS, Volume 47, Issue 1, Page 106-136, January 2026.
ABSTRACT This review presents a comprehensive overview of the developments and applications of high‐performance capillary and microchip electromigration methods (zone electrophoresis in a free solution or in sieving media, isotachophoresis, isoelectric focusing, affinity electrophoresis, electrokinetic chromatography, and electrochromatography) for ...
Václav Kašička
wiley   +1 more source