Results 41 to 50 of about 93 (50)

Pilot study using a discrete mathematical approach for topological analysis and ssGSEA of gene expression in autosomal recessive polycystic kidney disease

Scientific Reports
Autosomal recessive polycystic kidney disease (ARPKD) is a severe genetic disorder characterized by renal cystogenesis and hepatic fibrosis, primarily associated with PKHD1 mutations.
Nobuo Okui, Tsuyoshi Hachiya, Shigeo Horie   +2 more
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

Defects of renal tubular homeostasis and cystogenesis in the Pkhd1 knockout

iScience
Summary: Loss of PKHD1-gene function causes autosomal recessive polycystic kidney disease (ARPKD) characterized by bilateral severely enlarged kidneys and congenital liver fibrosis requiring kidney replacement therapy most frequently during childhood ...
Julia C. Fox, Susanne T. Hahnenstein, Fatima Hassan, Andrea Grund, Dieter Haffner, Wolfgang H. Ziegler   +5 more
doaj  

Is There a Functional Role of Mitochondrial Dysfunction in the Pathogenesis of ARPKD?

Frontiers in Medicine, 2021
Max Christoph Liebau
doaj   +1 more source

Histopathology and molecular pathology confirmed a diagnosis of atypical Caroli’s syndrome: a case report

Diagnostic Pathology
Caroli’s syndrome is a congenital disease characterized by dilation of intrahepatic bile ducts and congenital hepatic fibrosis. It is a rare condition in clinical work. Typically, the diagnosis of this disease is confirmed through medical imaging.
Tianmin Zhou, Keyu Liu, Hao Wei, Qingmei Zhong, Daya Luo, Wenjuan Yang, Ping Zhang, Yingqun Xiao   +7 more
doaj   +1 more source

AIRE mutation in an elderly Caroli’s patient with cholangitis and sepsis: a case report

Journal of Medical Case Reports
Background Caroli’s disease, an autosomal recessive, hereditary-related disorder, is a rare disease, in which the diagnosis is based primarily on medical imaging and pathophysiological examinations.
Yan Yan, Juanjuan Fu, Lilin Jiang, Zhonghua Lu, Renfang Chen   +4 more
doaj   +1 more source

Not All Diabetic Ketoacidosis in Infant Is Type 1: A Case Report Permanent Neonatal Diabetes

AACE Clinical Case Reports
Background/Objective: Neonatal diabetes is a monogenic type of diabetes mellitus. It arises at the first 6 months of age and can be classified as permanent or transient.
Doua Khalid Al Homyani, MD, Lina Al Homaiani, MD   +1 more
doaj  

Genetic landscape and clinical outcomes of autosomal recessive polycystic kidney disease in Kuwait

Heliyon
Background: Autosomal recessive polycystic kidney disease (ARPKD), a rare genetic disorder characterized by kidney cysts, shows complex clinical and genetic heterogeneity.
Mariam E. Alhaddad, Anwar Mohammad, Khadija M. Dashti, Sumi Elsa John, Yousif Bahbahani, Mohamed Abu-Farha, Jehad Abubaker, Thangavel Alphonse Thanaraj, Laila Bastaki, Fahd Al-Mulla, Mohammad Al-Ali, Hamad Ali   +11 more
doaj  

An extracellular vesicle based hypothesis for the genesis of the polycystic kidney diseases

Extracellular Vesicle
Autosomal dominant polycystic kidney (ADPKD) disease is the commonest genetic cause of kidney failure (affecting 1:800 individuals) and is due to heterozygous germline mutations in either of two genes, PKD1 and PKD2.
Marie C. Hogan, Christopher J. Ward
doaj  

Assessing the potential of DZIP1L gene in autosomal recessive polycystic kidney disease gene therapy

Pediatric Discovery
Fahreddin Palaz
doaj   +1 more source