Results 21 to 30 of about 17,376 (176)

Caroli′s syndrome in a post renal transplant patient: Case report and review of the literature

The Saudi Journal of Gastroenterology, 2012
Caroli′s syndrome is characterized by bile duct ectasia in association with hepatic fibrosis. It is usually transmitted in an autosomal recessive fashion and has been well documented to be associated with autosomal recessive polycystic kidney disease and
Muhammad Z Bawany, Osama Alaradi, Ali Nawras   +2 more
doaj   +1 more source

Hypertension in Autosomal Dominant Polycystic Kidney Disease [PDF]

Advances in Chronic Kidney Disease, 2010
Hypertension is common and occurs in a majority of autosomal dominant polycystic kidney disease (ADPKD) patients before the loss of kidney function. Hypertension relates to progressive kidney enlargement and is a significant independent risk factor for progression to ESRD.
Arlene B, Chapman, Konrad, Stepniakowski, Frederic, Rahbari-Oskoui   +2 more
openaire   +2 more sources

Cluster of differentiation 8 and programmed cell death ligand 1 expression in triple-negative breast cancer combined with autosomal dominant polycystic kidney disease and tuberous sclerosis complex: a case report

Journal of Medical Case Reports, 2019
Background Autosomal dominant polycystic kidney disease is defined as an inherited disorder characterized by renal cyst formation due to mutations in the PKD1 or PKD2 gene, whereas tuberous sclerosis complex is an autosomal dominant neurocutaneous ...
Kenji Gonda, Takanori Akama, Takayuki Nakamura, Eiko Hashimoto, Naomi Kyoya, Yuichi Rokkaku, Yuko Maejima, Shoichiro Horita, Kazunoshin Tachibana, Noriko Abe, Tohru Ohtake, Kenju Shimomura, Koji Kono, Shigehira Saji, Seiichi Takenoshita, Eiji Higashihara   +15 more
doaj   +1 more source

Hypertension in Autosomal Dominant Polycystic Kidney Disease

Saudi Journal of Kidney Diseases and Transplantation, 1999
Al-Khader Abdullah
doaj   +2 more sources

Autosomal dominant polycystic kidney disease

Srpski arhiv za celokupno lekarstvo, 2008
Autosomal dominant polycystic kiney disease is a hereditary systemic disorder, characterized by the developement of cysts, mainly in the kidney and liver, also with gastrointestinal and cardiovascular abnormalities. It affects 4 to 6 million people wordwide and accounts for end-stage renal disease in 7-10% of dialysis patients.
openaire   +2 more sources

Educational Case: Autosomal Dominant Polycystic Kidney Disease

Academic Pathology, 2020
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.
Ryan L. Frazier BS, Alison R. Huppmann MD   +1 more
doaj   +1 more source

Cardiac Involvement in Autosomal Dominant Polycystic Kidney Disease

Cardiogenetics, 2021
Cardiovascular disorders are the main complication in autosomal dominant polycystic kidney disease (ADPKD). contributing to both morbidity and mortality.
Letizia Spinelli, Giuseppe Giugliano, Giovanni Esposito   +2 more
doaj   +1 more source

Severe autosomal dominant polycystic kidney disease [PDF]

BMJ Case Reports, 2018
A 61-year-old man with a known history of autosomal dominant polycystic kidney disease (ADPKD) and stage IV chronic kidney disease presented with a 6-month history of abdominal pain, nausea, vomiting and fatigue. In addition to the ADPKD, the right kidney had a 4.4 cm inferior pole mass concerning for renal cell carcinoma (RCC).
Neal S Gerstein, Craig E Rumbaugh, Julie M Riley   +2 more
openaire   +2 more sources

Prenatal exome sequencing of fetuses with central nervous system anomalies based on prenatal ultrasound and magnetic resonance imaging diagnosis: A retrospective cohort study with a systematic review and meta‐analysis

Acta Obstetricia et Gynecologica Scandinavica, EarlyView.
Prenatal exome sequencing significantly improves diagnostic yield over chromosomal microarray analysis for fetal CNS abnormalities, with a diagnostic yield of 16% in our cohort and 27% in the meta‐analysis. Diagnostic yields vary across different phenotypes. Abstract Introduction Fetal central nervous system (CNS) abnormalities have diverse etiologies,
Jia Yao, Yan Wang, Gang Li, Zhitao Zhang, Yuan Lv, Lizhu Chen   +5 more
wiley   +1 more source

Compartmentalisation in cAMP signalling: A phase separation perspective

British Journal of Pharmacology, EarlyView.
Cells rely on precise spatiotemporal control of signalling pathways to ensure functional specificity. The compartmentalisation of cyclic AMP (cAMP) and protein kinase A (PKA) signalling enables distinct cellular responses within a crowded cytoplasmic space.
Milda Folkmanaite, Manuela Zaccolo
wiley   +1 more source