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Multiple congenital cysts of kidney

MedGen UID:
551890
•Concept ID:
C0311245
•
Disease or Syndrome
Synonyms: Congenital cyst of kidney; Congenital cystic disease of kidney; Congenital cystic kidney disease; Congenital polycystic kidney disease; Sponge kidney
SNOMED CT: Congenital cystic kidney disease (82525005); Multiple congenital cysts of kidney (82525005); Congenital polycystic kidney disease (82525005); Sponge kidney (82525005); Congenital cystic disease of kidney (82525005); Congenital cyst of kidney (82525005)

Professional guidelines

PubMed

Diagnosis and Management of Renal Cystic Disease of the Newborn: Core Curriculum 2021.
Raina R, Chakraborty R, Sethi SK, Kumar D, Gibson K, Bergmann C
Am J Kidney Dis 2021 Jul;78(1):125-141. Epub 2021 Jan 6 doi: 10.1053/j.ajkd.2020.10.021. PMID: 33418012
Diagnostic pitfalls in the evaluation and management of amenorrhea in adolescents.
Azurah AG, Zainuddin AA, Jayasinghe Y
J Reprod Med 2013 Jul-Aug;58(7-8):324-36. PMID: 23947083
Polycystic kidney disease: etiology, pathogenesis, and treatment.
Martinez JR, Grantham JJ
Dis Mon 1995 Nov;41(11):693-765. doi: 10.1016/s0011-5029(05)80007-0. PMID: 7587886

Recent clinical studies

Etiology

An update on ductal plate malformations and fibropolycystic diseases of the liver.
Mirza H, Besse W, Somlo S, Weinreb J, Kenney B, Jain D
Hum Pathol 2023 Feb;132:102-113. Epub 2022 Jun 28 doi: 10.1016/j.humpath.2022.06.022. PMID: 35777701
Ciliopathies and the Kidney: A Review.
McConnachie DJ, Stow JL, Mallett AJ
Am J Kidney Dis 2021 Mar;77(3):410-419. Epub 2020 Oct 9 doi: 10.1053/j.ajkd.2020.08.012. PMID: 33039432
Cardiometabolic risk in obese children.
Chung ST, Onuzuruike AU, Magge SN
Ann N Y Acad Sci 2018 Jan;1411(1):166-183. doi: 10.1111/nyas.13602. PMID: 29377201Free PMC Article
Congenital basis of posterior fossa anomalies.
Cotes C, Bonfante E, Lazor J, Jadhav S, Caldas M, Swischuk L, Riascos R
Neuroradiol J 2015 Jun;28(3):238-53. doi: 10.1177/1971400915576665. PMID: 26246090Free PMC Article
Dysplastic kidneys.
Winyard P, Chitty LS
Semin Fetal Neonatal Med 2008 Jun;13(3):142-51. Epub 2007 Dec 11 doi: 10.1016/j.siny.2007.10.009. PMID: 18065301

Diagnosis

An update on ductal plate malformations and fibropolycystic diseases of the liver.
Mirza H, Besse W, Somlo S, Weinreb J, Kenney B, Jain D
Hum Pathol 2023 Feb;132:102-113. Epub 2022 Jun 28 doi: 10.1016/j.humpath.2022.06.022. PMID: 35777701
Diagnosis and Management of Renal Cystic Disease of the Newborn: Core Curriculum 2021.
Raina R, Chakraborty R, Sethi SK, Kumar D, Gibson K, Bergmann C
Am J Kidney Dis 2021 Jul;78(1):125-141. Epub 2021 Jan 6 doi: 10.1053/j.ajkd.2020.10.021. PMID: 33418012
Congenital basis of posterior fossa anomalies.
Cotes C, Bonfante E, Lazor J, Jadhav S, Caldas M, Swischuk L, Riascos R
Neuroradiol J 2015 Jun;28(3):238-53. doi: 10.1177/1971400915576665. PMID: 26246090Free PMC Article
Dysplastic kidneys.
Winyard P, Chitty LS
Semin Fetal Neonatal Med 2008 Jun;13(3):142-51. Epub 2007 Dec 11 doi: 10.1016/j.siny.2007.10.009. PMID: 18065301
Congenital giant megaureter.
Huang CJ
J Pediatr Surg 1987 Mar;22(3):235-9. doi: 10.1016/s0022-3468(87)80336-6. PMID: 3559867

Therapy

Maturity-Onset diabetes of the young type 5 treated with the glucagon-like peptide-1 receptor agonist: A case report.
Terakawa A, Chujo D, Yasuda K, Ueno K, Nakamura T, Hamano S, Ohsugi M, Tanabe A, Ueki K, Kajio H
Medicine (Baltimore) 2020 Aug 28;99(35):e21939. doi: 10.1097/MD.0000000000021939. PMID: 32871938Free PMC Article
Characteristics of Liver Disease in 100 Individuals With Joubert Syndrome Prospectively Evaluated at a Single Center.
Strongin A, Heller T, Doherty D, Glass IA, Parisi MA, Bryant J, Choyke P, Turkbey B, Daryanani K, Yildirimli D, Vemulapalli M, Mullikin JC, Malicdan MC, Vilboux T, Gahl WA, Gunay-Aygun M; NISC Comparative Sequencing Program
J Pediatr Gastroenterol Nutr 2018 Mar;66(3):428-435. doi: 10.1097/MPG.0000000000001816. PMID: 29112083Free PMC Article
Living Kidney Donor Cancellation at King Hussein Medical Center.
Al-Rabadi K, Almardini RI, Hajeer M, Hendawi M, Hadad A
Exp Clin Transplant 2017 Feb;15(Suppl 1):116-120. doi: 10.6002/ect.mesot2016.O114. PMID: 28260449
Telmisartan ameliorates fibrocystic liver disease in an orthologous rat model of human autosomal recessive polycystic kidney disease.
Yoshihara D, Kugita M, Sasaki M, Horie S, Nakanishi K, Abe T, Aukema HM, Yamaguchi T, Nagao S
PLoS One 2013;8(12):e81480. Epub 2013 Dec 6 doi: 10.1371/journal.pone.0081480. PMID: 24324698Free PMC Article
Reduced Notch signaling leads to renal cysts and papillary microadenomas.
Surendran K, Selassie M, Liapis H, Krigman H, Kopan R
J Am Soc Nephrol 2010 May;21(5):819-32. Epub 2010 Apr 8 doi: 10.1681/ASN.2009090925. PMID: 20378824Free PMC Article

Prognosis

Calyceal diverticula: Clinical, radiological and histopathological findings of an uncommon entity with presumed congenital origin.
Srivastava P, Satturwar S, Bastacky S, Dhir R, Reyes-Múgica M, Beasley HS, Quiroga-Garza GM
Ann Diagn Pathol 2022 Jun;58:151932. Epub 2022 Mar 4 doi: 10.1016/j.anndiagpath.2022.151932. PMID: 35276547
Ultrasound and color Doppler applications in chronic kidney disease.
Petrucci I, Clementi A, Sessa C, Torrisi I, Meola M
J Nephrol 2018 Dec;31(6):863-879. Epub 2018 Sep 6 doi: 10.1007/s40620-018-0531-1. PMID: 30191413
Joubert syndrome: report of 11 cases.
İncecik F, Hergüner MÖ, Altunbaşak Ş, Gleeson JG
Turk J Pediatr 2012 Nov-Dec;54(6):605-11. PMID: 23692786Free PMC Article
Dysplastic kidneys.
Winyard P, Chitty LS
Semin Fetal Neonatal Med 2008 Jun;13(3):142-51. Epub 2007 Dec 11 doi: 10.1016/j.siny.2007.10.009. PMID: 18065301
Polycystic kidney disease: etiology, pathogenesis, and treatment.
Martinez JR, Grantham JJ
Dis Mon 1995 Nov;41(11):693-765. doi: 10.1016/s0011-5029(05)80007-0. PMID: 7587886

Clinical prediction guides

Pkd1 Mutation Has No Apparent Effects on Peroxisome Structure or Lipid Metabolism.
Terabayashi T, Menezes LF, Zhou F, Cai H, Walter PJ, Garraffo HM, Germino GG
Kidney360 2021 Oct 28;2(10):1576-1591. Epub 2021 Jul 16 doi: 10.34067/KID.0000962021. PMID: 35372986Free PMC Article
Pathophysiological clinical features of an infant with hypertension secondary to multicystic dysplastic kidney: a case report.
Sugimoto K, Enya T, Joh K, Miyazaki K, Miyazawa T, Ohshima R, Marutani S, Tsukasa T, Okada M
BMC Nephrol 2021 Feb 5;22(1):55. doi: 10.1186/s12882-021-02249-6. PMID: 33546619Free PMC Article
Ultrasound and color Doppler applications in chronic kidney disease.
Petrucci I, Clementi A, Sessa C, Torrisi I, Meola M
J Nephrol 2018 Dec;31(6):863-879. Epub 2018 Sep 6 doi: 10.1007/s40620-018-0531-1. PMID: 30191413
Joubert syndrome: report of 11 cases.
İncecik F, Hergüner MÖ, Altunbaşak Ş, Gleeson JG
Turk J Pediatr 2012 Nov-Dec;54(6):605-11. PMID: 23692786Free PMC Article
Dysplastic kidneys.
Winyard P, Chitty LS
Semin Fetal Neonatal Med 2008 Jun;13(3):142-51. Epub 2007 Dec 11 doi: 10.1016/j.siny.2007.10.009. PMID: 18065301

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