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Kidney International ReportsIntroduction: ADPKD-IFT140 is the third most common disease-causing variant in autosomal dominant polycystic kidney disease (ADPKD) after ADPKD-PKD1 and ADPKD-PKD2.
Abdul Hamid Borghol +2 more
exaly +3 more sources
Safety and feasibility of synchronous unilateral nephrectomy and contralateral heminephrectomy for extremely severe autosomal dominant polycystic kidney disease: Techniques and outcome [PDF]
Investigative and Clinical Urology, 2022 Purpose: To demonstrate the safety and feasibility of synchronous unilateral nephrectomy and contralateral heminephrectomy in extremely severe autosomal dominant polycystic kidney disease (ADPKD), which corresponds to the Mayo imaging classification ...
Jang Hee Han +7 more
doaj +1 more source
Interdisciplinary Journal of Epidemiology and Public Health, 2021 Introducción: la enfermedad poliquística renal autosómica (ADPKD), es considerada huérfana hereditaria. Con una prevalencia mundial de 2.7/100,000 hab. Presenta graves complicaciones con desenlaces fatales.
Juan Sebastian Valencia Quintero +1 more
doaj +1 more source
Autosomal Dominant Polycystic Kidney Desease Coexisting with Renal Dysplasia. First Case Described and Followed Since Prenatal Period [PDF]
Childhood Kidney Diseases, 2018 Autosomal dominant polycystic kidney disease (ADPKD) is the most frequent hereditary renal disease and causes terminal chronic renal failure. ADPKD is characterized by bilateral multiple renal cysts, which are produced by mutations of the PKD1 and PKD2 ...
Carmen Truyols
doaj +1 more source
Identification of osteopontin as a urinary biomarker for autosomal dominant polycystic kidney disease progression [PDF]
Kidney Research and Clinical Practice, 2022 Background Autosomal dominant polycystic kidney disease (ADPKD), one of the most common human monogenic diseases, is characterized by the presence of numerous fluid-filled renal cysts and is a leading cause of end-stage renal disease (ESRD).
Hyunsuk Kim +5 more
doaj +1 more source
Haseki Tıp Bülteni, 2022 Aim:There is a need to understand autosomal dominant polycystic kidney disease (ADPKD) patients’ dietary habits since dietary interventions may have potential effects on ADPKD.
Yonca Sevim +5 more
doaj +1 more source
Rapidly progressive nephromegaly in a neonate with autosomal recessive poly cystic kidney disease [PDF]
Journal of Nephropathology, 2017 Background: Autosomal recessive polycystic kidney disease (ARPKD) associates with significant renal and liver-related morbidity and mortality in children. Rarely severe enlargement of kidneys necessitates nephrectomy and initiating dialysis.
Mitra Naseri +3 more
doaj +1 more source
Radiologic and clinical bronchiectasis associated with autosomal dominant polycystic kidney disease. [PDF]
PLoS ONE, 2014 Polycystin 1 and 2, the protein abnormalities associated with autosomal dominant polycystic kidney disease (ADPKD), are also found in airway cilia and smooth muscle cells.
Teng Moua +6 more
doaj +1 more source
Giant Bilateral Adrenal Myelolipoma: Case Report
Indian Journal of Endocrinology and Metabolism, 2020 Adrenal myelolipomas are nonfunctional tumors that are usually asymptomatic; however, they have been known to coexist with other endocrine disorders, such as Cushing's syndrome, congenital adrenal hyperplasia (CAH), Conn's syndrome, and pheochromocytoma.
B Rathna Roger +3 more
doaj +1 more source
Bone Reports, 2023 ADPKD is caused by pathogenic variants in PKD1 or PKD2, encoding polycystin-1 and -2 proteins. Polycystins are expressed in osteoblasts and chondrocytes in animal models, and loss of function is associated with low bone mineral density (BMD) and volume ...
Dalia Zubidat +19 more
doaj +1 more source