Autosomal dominant polycystic kidney disease information
Medical condition
Autosomal dominant polycystic kidney disease
Other names
Autosomal dominant PKD, adult-onset PKD
Polycystic kidneys
Specialty
Medical genetics
Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common, life-threatening inherited human disorders and the most common hereditary kidney disease.[1][2] It is associated with large interfamilial and intrafamilial variability, which can be explained to a large extent by its genetic heterogeneity and modifier genes.[1] It is also the most common of the inherited cystic kidney diseases — a group of disorders with related but distinct pathogenesis, characterized by the development of renal cysts and various extrarenal manifestations, which in case of ADPKD include cysts in other organs, such as the liver, seminal vesicles, pancreas, and arachnoid membrane, as well as other abnormalities, such as intracranial aneurysms and dolichoectasias, aortic root dilatation and aneurysms, mitral valve prolapse, and abdominal wall hernias.[1][3][4] Over 50% of patients with ADPKD eventually develop end stage kidney disease and require dialysis or kidney transplantation.[1][5] ADPKD is estimated to affect at least one in every 1000 individuals worldwide, making this disease the most common inherited kidney disorder with a diagnosed prevalence of 1:2000 and incidence of 1:3000-1:8000 in a global scale.[6][7][8][9][10]
^"What is ADPKD?". PKD Foundation. Retrieved 2022-09-23.
^Dalgaard OZ (1957). "Bilateral polycystic disease of the kidneys; a follow-up of two hundred and eighty-four patients and their families". Acta Medica Scandinavica. Supplementum. 328: 1–255. PMID 13469269.
^Torres VE, Harris PC (July 2009). "Autosomal dominant polycystic kidney disease: the last 3 years". Kidney International. 76 (2): 149–168. doi:10.1038/ki.2009.128. PMC 2812475. PMID 19455193.
^Grantham JJ (October 2008). "Clinical practice. Autosomal dominant polycystic kidney disease". The New England Journal of Medicine. 359 (14): 1477–1485. doi:10.1056/NEJMcp0804458. PMC 2843931. PMID 18832246.; Reprinted in Niemczyk M, Niemczyk S, Paczek L (2009). "Autosomal dominant polycystic kidney disease and transplantation". Annals of Transplantation. 14 (4): 86–90. PMC 2843931. PMID 20009161.
^Muto S, Kawano H, Higashihara E, Narita I, Ubara Y, Matsuzaki T, et al. (October 2015). "The effect of tolvaptan on autosomal dominant polycystic kidney disease patients: a subgroup analysis of the Japanese patient subset from TEMPO 3:4 trial". Clinical and Experimental Nephrology. 19 (5): 867–877. doi:10.1007/s10157-015-1086-2. PMID 25663351. S2CID 12124902.
^Higashihara E, Nutahara K, Kojima M, Tamakoshi A, Yoshiyuki O, Sakai H, Kurokawa K (December 1998). "Prevalence and renal prognosis of diagnosed autosomal dominant polycystic kidney disease in Japan". Nephron. 80 (4): 421–427. doi:10.1159/000045214. PMID 9832641. S2CID 22124996.
^Levy M, Feingold J (September 2000). "Estimating prevalence in single-gene kidney diseases progressing to renal failure". Kidney International. 58 (3): 925–943. doi:10.1046/j.1523-1755.2000.00250.x. PMID 10972657.
^Torres VE, Chapman AB, Devuyst O, Gansevoort RT, Grantham JJ, Higashihara E, et al. (December 2012). "Tolvaptan in patients with autosomal dominant polycystic kidney disease". The New England Journal of Medicine. 367 (25): 2407–2418. doi:10.1056/NEJMoa1205511. PMC 3760207. PMID 23121377.
^Cornec-Le Gall E, Le Meur Y (November 2014). "[Autosomal dominant polycystic kidney disease: is the treatment for tomorrow?]". Nephrologie & Therapeutique. 10 (6): 433–440. doi:10.1016/j.nephro.2014.03.003. PMID 25086476.
and 28 Related for: Autosomal dominant polycystic kidney disease information
pathology and genetic cause: autosomaldominantpolycystickidneydisease (ADPKD) and autosomal recessive polycystickidneydisease (ARPKD). The abnormal gene...
Autosomaldominantpolycystickidneydisease (ADPKD) is one of the most common, life-threatening inherited human disorders and the most common hereditary...
Autosomal recessive polycystickidneydisease (ARPKD) is the recessive form of polycystickidneydisease. It is associated with a group of congenital fibrocystic...
also present with BRA.It is associated with childhood polycystickidneydisease which is autosomal recessive in origin Other anomalies of the classic Potter...
cystic kidneydisease (MCKD) is an autosomaldominantkidney disorder characterized by tubulointerstitial sclerosis leading to end-stage renal disease. Because...
Autosomaldominantpolycystickidneydisease affects patients later in life. Approximately one in 1000 people will develop this condition Autosomal recessive...
autosomal dominant. Autosomal recessive polycystickidneydisease (ARPKD) is primarily diagnosed in infants and young children while autosomaldominant polycystic...
associated with most cases of autosomaldominantpolycystickidneydisease, a severe hereditary disorder of the kidneys characterised by the development...
Full scale therapeutic trials of V2RAs in patients with autosomaldominantpolycystickidneydisease are currently ongoing. Congenital nephrogenic diabetes...
of polycystickidneydisease. The FDA granted Jynarque an orphan drug designation in April 2012, for the treatment of autosomaldominantpolycystic kidney...
intracranial aneurysms, such as Ehlers-Danlos syndrome, autosomaldominantpolycystickidneydisease, and familial hyperaldosteronism type I. However, individuals...
(hence, "polycystic") in both kidneys, can also damage the liver, pancreas, and rarely, the heart and brain. It can be autosomaldominant or autosomal recessive...
especially prone to autosomaldominantpolycystickidneydisease (ADPKD). Cysts develop and grow in the kidney over time, replacing kidney tissues and enlarging...
(2023). "Large-scale epidemiological study on feline autosomaldominantpolycystickidneydisease and identification of novel PKD1 gene variants". Journal...
communicating artery of the circle of Willis, associated with autosomaldominantpolycystickidneydisease Familial thoracic aortic aneurysms Cirsoid aneurysms...
associations related to main cause: GCKD can be associated with autosomaldominantpolycystickidneydisease. It can also be found in a number of patients with the...
University. Mutations in this gene have been associated with autosomaldominantpolycystickidneydisease. Polycystin 2 has been shown to interact with the proteins...
hemorrhage, screening may be worthwhile. Autosomaldominantpolycystickidneydisease (ADPKD), a hereditary kidney condition, is known to be associated with...
skin occurs. Caroli disease usually occurs in the presence of other diseases, such as autosomal recessive polycystickidneydisease, cholangitis, gallstones...
development for the treatment of Autosomaldominantpolycystickidneydisease (ADPKD), the most common form of polycystickidneydisease. The U.S. Food and Drug...
1, 1994). "Overt proteinuria and microalbuminuria in autosomaldominantpolycystickidneydisease". Journal of the American Society of Nephrology. 5 (6):...
fibrotic and neurodegenerative diseases and tesevatinib to treat autosomaldominantpolycystickidneydisease (PKD) and autosomal recessive PKD. During Waksal's...
imaging agents for cancer, inflammatory diseases and kidneydisease (autosomal-dominantpolycystickidneydisease/ADPKDor PKD). Endocyte’s lead drug candidate...
connective tissue disease may also be associated with the development of aneurysms. This includes: autosomaldominantpolycystickidneydisease, neurofibromatosis...
Global Information
