Results 31 to 40 of about 656,619 (173)

Educational Case: Autosomal Recessive Polycystic Kidney Disease

Academic Pathology, 2017
The following fictional case is intended as a learning tool within the Pathology Competencies for Medical Education (PCME), a set of national standards for teaching pathology.
Ashley S. Hafer MPA, Richard M. Conran MD, PhD, JD   +1 more
doaj   +1 more source

Phenotypic variability in siblings with autosomal recessive polycystic kidney disease

, 2022
© 2022 International Society of NephrologyIntroduction: Autosomal recessive polycystic kidney disease (ARPKD) is a rare monogenic disorder characterized by early onset fibrocystic hepatorenal changes.
GÖKCE, İBRAHİM
core   +1 more source

Prevalence, risk factors and disease knowledge of polycystic kidney disease in Pakistan

International Journal of Immunopathology and Pharmacology, 2020
Polycystic kidneys disease refers to cyst(s) formation in kidneys with severe consequences of end stage renal disease thus have higher mortality. It is a common genetic disease occurring either as autosomal dominant polycystic kidney (ADPKD) or autosomal
Rabia Zahid, Muhammad Akram, Ejaz Rafique   +2 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

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

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

Naringenin inhibits the growth of Dictyostelium and MDCK-derived cysts in a polycystin-2 (TRPP2)-dependent manner. [PDF]

, 2013
Identifying and characterising potential new therapeutic agents to target cell proliferation may provide improved treatments for neoplastic disorders such as cancer and polycystic ...
Baines, D, Williams, R.S.B., Dinh, C, Ludtmann, M H R, Waheed, A., Ludtmann, M.H.R., Pakes, N, Carew, M., Williams, RS, Pakes, N., Robery, S, Carew, MA, Waheed, A, Ludtmann, MH, Kuspa, A, Robery, S., Kuspa, A., Baines, D., Carew, M A, Williams, R S, Dinh, C.   +20 more
core   +1 more source

Early clinical management of autosomal recessive polycystic kidney disease

, 2021
Autosomal 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 ...
Liebau, Max Christoph
core   +1 more source

IDENTIFICATION OF DISEASE GENES FOR RARE AUTOSOMAL RECESSIVE EPILEPTIC SYNDROMES BY HOMOZYGOSITY MAPPING [PDF]

, 2011
Introduction: The genetics of the most common neurological disorders, including epilepsy, with mendelian inheritance has been dissected in the last twenty years. However the genetic etiology of some rare epileptic conditions is still unknown.
Coppola, Antonietta
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