Results 51 to 60 of about 23,951 (234)

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

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

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

The fate of bone marrow-derived cells carrying a polycystic kidney disease mutation in the genetically normal kidney [PDF]

, 2012
Polycystic Kidney Disease (PKD) is a genetic condition in which dedifferentiated and highly proliferative epithelial cells form renal cysts and is frequently treated by renal transplantation.
Bertram, John, Deane, James, Johnson, Chad, Ricardo, Sharon D, Verghese, Elizabeth   +4 more
core   +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

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

Genetic study of congenital bile-duct dilatation identifies de novo and inherited variants in functionally related genes [PDF]

, 2016
Background: Congenital dilatation of the bile-duct (CDD) is a rare, mostly sporadic, disorder that results in bile retention with severe associated complications. CDD affects mainly Asians.
Campbell, Desmond, Cheng, Guo, Cherny, Stacey S., Chung, Patrick H. Y., Garcia-Barcelo, Maria-Mercè, Ngo, Ngoc Diem, Sham, Pak C., So, Man-ting, Tam, Paul K., Tang, Clara S. M., Tran, Ngoc Son, Wong, John K. L., Yeung, Fanny   +12 more
core   +1 more source

Aldosterone as a renal growth factor [PDF]

, 2010
Aldosterone regulates blood pressure through its effects on the cardiovascular system and kidney. Aldosterone can also contribute to the development of hypertension that leads to chronic pathologies such as nephropathy and renal fibrosis.
Dooley, Ruth, Harvey, Brian J, Thomas, Warren   +2 more
core   +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

Nephronophthisis: a genetically diverse ciliopathy. [PDF]

, 2011
Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease and a leading genetic cause of established renal failure (ERF) in children and young adults.
Eley, L., Hynes, A.M., Sayer, J.A., Simms, R.J.   +3 more
core   +4 more sources