Results 31 to 40 of about 17,457 (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

Hydronephrosis in autosomal dominant polycystic kidney disease [PDF]

Kidney International, 2009
An 18-year-old patient with autosomal dominant polycystic kidney disease (ADPKD) was enrolled in a clinical study testing a novel drug therapy to retard disease progression. He reported chronic intermittent right-sided flank pain that began 2 years earlier and was attributed to ADPKD at that time.
Kistler, A D, Poster, D, Wüthrich, R P, Serra, A L   +3 more
openaire   +4 more sources

Should a paediatrician perform abdominal ultrasonography inchildren of parents with polycystic kidney disease?

Pediatria i Medycyna Rodzinna, 2016
Autosomal dominant polycystic kidney disease produces symptoms mainly in adulthood. Renal cysts and/or elevated blood pressure can be the first signs of the disease in children.
Krzysztof Wróblewski, Katarzyna Młudzik, Susan Afshari, Piotr Grzelak, Marcin Tkaczyk   +4 more
doaj   +1 more source

Renal cell carcinoma in autosomal dominant polycystic kidney disease: A case report

Radiology Case Reports, 2023
Autosomal dominant polycystic kidney disease (ADPKD) is one of the congenital cystic renal diseases with the highest incidence. ADPKD was suspected of being a risk factor for the emergence of RCC.
Gullyawan Rooseno, Ida Bagus Gde Tirta Yoga Yatindra, Wahjoe Djatisoesanto, Tarmono Djojodimedjo   +3 more
doaj   +1 more source

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

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

An 11-Year-Old Child with Autosomal Dominant Polycystic Kidney Disease Who Presented with Nephrolithiasis

Case Reports in Medicine, 2012
Patients with autosomal dominant polycystic kidney disease become symptomatic and are diagnosed usually at adulthood. The rate of nephrolithiasis in these patients is 5–10 times the rate in the general population, and both anatomic and metabolic ...
Fatih Firinci, Alper Soylu, Belde Kasap Demir, Mehmet Turkmen, Salih Kavukcu   +4 more
doaj   +1 more source

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

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