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Multicystic kidney dysplasia

MedGen UID:
504299
Concept ID:
CN000004
Finding
Synonyms: Multicystic dysplastic kidney; Multicystic kidneys; Multicystic renal dysplasia
 

Definition

Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvocaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional. [from HPO]

Recent clinical studies

Etiology

van Vuuren SH, van der Doef R, Cohen-Overbeek TE, Goldschmeding R, Pistorius LR, de Jong TP
Ultrasound Obstet Gynecol 2012 Dec;40(6):665-8. doi: 10.1002/uog.11168. PMID: 22581658
Eckoldt F, Woderich R, Smith RD, Heling KS
Fetal Diagn Ther 2004 Mar-Apr;19(2):163-9. doi: 10.1159/000075143. PMID: 14764963
Eckoldt F, Woderich R, Wolke S, Heling KS, Stöver B, Tennstedt C
J Matern Fetal Neonatal Med 2003 Sep;14(3):177-86. doi: 10.1080/jmf.14.3.177.186. PMID: 14694973
Heymans C, Breysem L, Proesmans W
Eur J Pediatr 1998 Aug;157(8):673-5. PMID: 9727854
Bachmann H, Winkielman J, Olbing H
Contrib Nephrol 1988;67:188-92. PMID: 3208527

Diagnosis

Winding L, Loane M, Wellesley D, Addor MC, Arriola L, Bakker MK, Bianchi F, Calzolari E, Gatt M, Haeusler M, Lelong N, Mullaney C, Scarano G, Tucker D, Wiesel A, Garne E
Prenat Diagn 2014 Nov;34(11):1093-8. Epub 2014 Jul 2 doi: 10.1002/pd.4433. [Epub ahead of print] PMID: 24916896
Eckoldt F, Woderich R, Smith RD, Heling KS
Fetal Diagn Ther 2004 Mar-Apr;19(2):163-9. doi: 10.1159/000075143. PMID: 14764963
Eckoldt F, Woderich R, Wolke S, Heling KS, Stöver B, Tennstedt C
J Matern Fetal Neonatal Med 2003 Sep;14(3):177-86. doi: 10.1080/jmf.14.3.177.186. PMID: 14694973
Heymans C, Breysem L, Proesmans W
Eur J Pediatr 1998 Aug;157(8):673-5. PMID: 9727854
Liao CT, Hsieh CH, Chang JC, Chang SY
Changgeng Yi Xue Za Zhi 1997 Dec;20(4):335-9. PMID: 9509666

Therapy

Lankadeva YR, Singh RR, Tare M, Moritz KM, Denton KM
Am J Physiol Renal Physiol 2014 Apr 15;306(8):F791-800. Epub 2014 Feb 5 doi: 10.1152/ajprenal.00666.2013. [Epub ahead of print] PMID: 24500691

Prognosis

Eckoldt F, Woderich R, Smith RD, Heling KS
Fetal Diagn Ther 2004 Mar-Apr;19(2):163-9. doi: 10.1159/000075143. PMID: 14764963
Eckoldt F, Woderich R, Wolke S, Heling KS, Stöver B, Tennstedt C
J Matern Fetal Neonatal Med 2003 Sep;14(3):177-86. doi: 10.1080/jmf.14.3.177.186. PMID: 14694973
Heymans C, Breysem L, Proesmans W
Eur J Pediatr 1998 Aug;157(8):673-5. PMID: 9727854
Bachmann H, Winkielman J, Olbing H
Contrib Nephrol 1988;67:188-92. PMID: 3208527

Clinical prediction guides

van Vuuren SH, van der Doef R, Cohen-Overbeek TE, Goldschmeding R, Pistorius LR, de Jong TP
Ultrasound Obstet Gynecol 2012 Dec;40(6):665-8. doi: 10.1002/uog.11168. PMID: 22581658
Baala L, Audollent S, Martinovic J, Ozilou C, Babron MC, Sivanandamoorthy S, Saunier S, Salomon R, Gonzales M, Rattenberry E, Esculpavit C, Toutain A, Moraine C, Parent P, Marcorelles P, Dauge MC, Roume J, Le Merrer M, Meiner V, Meir K, Menez F, Beaufrère AM, Francannet C, Tantau J, Sinico M, Dumez Y, MacDonald F, Munnich A, Lyonnet S, Gubler MC, Génin E, Johnson CA, Vekemans M, Encha-Razavi F, Attié-Bitach T
Am J Hum Genet 2007 Jul;81(1):170-9. Epub 2007 Jun 4 doi: 10.1086/519494. [Epub ahead of print] PMID: 17564974Free PMC Article
Baala L, Romano S, Khaddour R, Saunier S, Smith UM, Audollent S, Ozilou C, Faivre L, Laurent N, Foliguet B, Munnich A, Lyonnet S, Salomon R, Encha-Razavi F, Gubler MC, Boddaert N, de Lonlay P, Johnson CA, Vekemans M, Antignac C, Attie-Bitach T
Am J Hum Genet 2007 Jan;80(1):186-94. Epub 2006 Nov 15 doi: 10.1086/510499. [Epub ahead of print] PMID: 17160906Free PMC Article
Eckoldt F, Woderich R, Smith RD, Heling KS
Fetal Diagn Ther 2004 Mar-Apr;19(2):163-9. doi: 10.1159/000075143. PMID: 14764963
Altavilla G, Cusatelli P
Ultrastruct Pathol 1998 Nov-Dec;22(6):477-83. PMID: 9891927

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