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Congenital anomalies of kidney and urinary tract 2(PUJO; UPJO; CAKUT2)

MedGen UID:
1804316
Concept ID:
C5574705
Disease or Syndrome
Synonyms: Multicystic renal dysplasia, bilateral; Pelvi-ureteric junction obstruction
 
Gene (location): TBX18 (6q14.3)
 
Monarch Initiative: MONDO:0027676
OMIM®: 143400

Definition

Congenital anomalies of the kidneys and urinary tract (CAKUT) encompasses a spectrum of developmental disorders of the urinary tract that can range from mild vesicoureteral reflux to severe renal agenesis. Other phenotypes include renal duplication, small kidneys, ureteropelvic junction obstruction, hydronephrosis, and renal dysplasia. These abnormalities can result in kidney damage, and possibly renal failure (summary by Vivante et al., 2015). For a discussion of genetic heterogeneity of CAKUT, see 610805. [from OMIM]

Clinical features

From HPO
Back pain
MedGen UID:
2530
Concept ID:
C0004604
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back.
Flank pain
MedGen UID:
5207
Concept ID:
C0016199
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the flank.
Hydronephrosis
MedGen UID:
42531
Concept ID:
C0020295
Disease or Syndrome
Severe distention of the kidney with dilation of the renal pelvis and calices.
Renal hypoplasia
MedGen UID:
120571
Concept ID:
C0266295
Congenital Abnormality
Hypoplasia of the kidney.
Congenital megaureter
MedGen UID:
451022
Concept ID:
C0266324
Congenital Abnormality
A developmental disturbance with extreme ureteral dilatation.
Ureteropelvic junction obstruction
MedGen UID:
105482
Concept ID:
C0521619
Anatomical Abnormality
Blockage of urine flow from the renal pelvis to the proximal ureter.
Hydroureter
MedGen UID:
101073
Concept ID:
C0521620
Anatomical Abnormality
The distention of the ureter with urine.
Renal insufficiency
MedGen UID:
332529
Concept ID:
C1565489
Disease or Syndrome
A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
Hyperechogenic kidneys
MedGen UID:
477530
Concept ID:
C3275899
Finding
An increase in amplitude of waves returned in ultrasonography of the kidney, which is generally displayed as increased brightness of the signal.
Renal dysplasia
MedGen UID:
760690
Concept ID:
C3536714
Congenital Abnormality
The presence of developmental dysplasia of the kidney.

Professional guidelines

PubMed

Gülhan B, Ekici O, Dursun İ, Göknar N, Yüksel S, Alaygut D, Özçakar ZB, Nalçacıoğlu H, Demircioğlu Kılıç B, Söylemezoğlu O, Duzova A, Topaloglu R, Ozaltin F
Clin Nephrol 2024 Aug;102(2):79-88. doi: 10.5414/CN111310. PMID: 38699986
Buettcher M, Trueck J, Niederer-Loher A, Heininger U, Agyeman P, Asner S, Berger C, Bielicki J, Kahlert C, Kottanattu L, Meyer Sauteur PM, Paioni P, Posfay-Barbe K, Relly C, Ritz N, Zimmermann P, Zucol F, Gobet R, Shavit S, Rudin C, Laube G, von Vigier R, Neuhaus TJ
Eur J Pediatr 2021 Mar;180(3):663-674. Epub 2020 Jul 3 doi: 10.1007/s00431-020-03714-4. PMID: 32621135Free PMC Article
Oliveira EA, Oliveira MC, Mak RH
Curr Opin Pediatr 2016 Apr;28(2):195-201. doi: 10.1097/MOP.0000000000000321. PMID: 26807623

Recent clinical studies

Etiology

Buettcher M, Trueck J, Niederer-Loher A, Heininger U, Agyeman P, Asner S, Berger C, Bielicki J, Kahlert C, Kottanattu L, Meyer Sauteur PM, Paioni P, Posfay-Barbe K, Relly C, Ritz N, Zimmermann P, Zucol F, Gobet R, Shavit S, Rudin C, Laube G, von Vigier R, Neuhaus TJ
Eur J Pediatr 2021 Mar;180(3):663-674. Epub 2020 Jul 3 doi: 10.1007/s00431-020-03714-4. PMID: 32621135Free PMC Article
Rao J, Liu X, Mao J, Tang X, Shen Q, Li G, Sun L, Bi Y, Wang X, Qian Y, Wu B, Wang H, Zhou W, Ma D, Zheng B, Shen Y, Chen Z, Luan J, Wang X, Wang M, Dang X, Wang Y, Wu Y, Hou L, Sun S, Li Q, Liu X, Bai H, Yang Y, Shao X, Li Y, Zheng S, Han M, Liu C, Cao G, Zhao L, Qiu S, Dong Y, Zhu Y, Wang F, Zhang D, Li Y, Zhao L, Yang C, Luo X, Chen L, Jiang X, Zhang A, Xu H; for “Internet Plus” Nephrology Alliance of National Center for Children's Care
Clin Genet 2019 Nov;96(5):402-410. Epub 2019 Jul 25 doi: 10.1111/cge.13606. PMID: 31328266
Chung EM, Soderlund KA, Fagen KE
Radiol Clin North Am 2017 Mar;55(2):337-357. Epub 2016 Dec 24 doi: 10.1016/j.rcl.2016.10.010. PMID: 28126219
Pohl HG, Belman AB
Curr Pediatr Rev 2014;10(2):123-32. doi: 10.2174/157339631002140513102152. PMID: 25088266
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

Wakabayashi EA, Pantaleão AN, Avendanha RA, Brunheroto FB, Simões E Silva AC
Curr Med Chem 2023;30(2):203-219. doi: 10.2174/0929867329666220629142556. PMID: 35770397
Buettcher M, Trueck J, Niederer-Loher A, Heininger U, Agyeman P, Asner S, Berger C, Bielicki J, Kahlert C, Kottanattu L, Meyer Sauteur PM, Paioni P, Posfay-Barbe K, Relly C, Ritz N, Zimmermann P, Zucol F, Gobet R, Shavit S, Rudin C, Laube G, von Vigier R, Neuhaus TJ
Eur J Pediatr 2021 Mar;180(3):663-674. Epub 2020 Jul 3 doi: 10.1007/s00431-020-03714-4. PMID: 32621135Free PMC Article
Rao J, Liu X, Mao J, Tang X, Shen Q, Li G, Sun L, Bi Y, Wang X, Qian Y, Wu B, Wang H, Zhou W, Ma D, Zheng B, Shen Y, Chen Z, Luan J, Wang X, Wang M, Dang X, Wang Y, Wu Y, Hou L, Sun S, Li Q, Liu X, Bai H, Yang Y, Shao X, Li Y, Zheng S, Han M, Liu C, Cao G, Zhao L, Qiu S, Dong Y, Zhu Y, Wang F, Zhang D, Li Y, Zhao L, Yang C, Luo X, Chen L, Jiang X, Zhang A, Xu H; for “Internet Plus” Nephrology Alliance of National Center for Children's Care
Clin Genet 2019 Nov;96(5):402-410. Epub 2019 Jul 25 doi: 10.1111/cge.13606. PMID: 31328266
Oliveira EA, Oliveira MC, Mak RH
Curr Opin Pediatr 2016 Apr;28(2):195-201. doi: 10.1097/MOP.0000000000000321. PMID: 26807623
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

Therapy

Evgenia G, Yafa F, Hadas A, Shelly L, Amit D, Landau D, Orly H
J Nephrol 2023 Jul;36(6):1571-1580. Epub 2023 Jun 21 doi: 10.1007/s40620-023-01668-y. PMID: 37341967
Elgendy MM, Othman HF, Mohamed MA, Matar RB, Aly H
Pediatr Nephrol 2023 Mar;38(3):867-876. Epub 2022 Jul 5 doi: 10.1007/s00467-022-05575-5. PMID: 35790647
Stavas J, Diaz-Gonzalez de Ferris M, Johns A, Jain D, Bertram T
Blood Purif 2021;50(4-5):678-683. Epub 2021 Mar 1 doi: 10.1159/000512586. PMID: 33647913
Gulleroglu K, Baskin E, Kirnap M, Uslu N, Moray G, Haberal M
Exp Clin Transplant 2020 Jan;18(Suppl 1):41-43. doi: 10.6002/ect.TOND-TDTD2019.O21. PMID: 32008492
Simões e Silva AC, Oliveira EA
J Pediatr (Rio J) 2015 Nov-Dec;91(6 Suppl 1):S2-10. Epub 2015 Sep 7 doi: 10.1016/j.jped.2015.05.003. PMID: 26361319

Prognosis

Marzuillo P, Guarino S, Alfiero S, Annicchiarico Petruzzelli L, Arenella M, Baccelli F, Brugnara M, Corrado C, Delcaro G, Di Sessa A, Gallotta G, Lanari M, Lorenzi M, Malgieri G, Miraglia Del Giudice E, Pecoraro C, Pennesi M, Picassi S, Pierantoni L, Puccio G, Scozzola F, Taroni F, Tosolini C, Venditto L, Pasini A, La Scola C, Montini G; CAKUT‐UTI Study Group of the Italian Society of Pediatric Nephrology
Acta Paediatr 2024 Jul;113(7):1711-1719. Epub 2024 Apr 20 doi: 10.1111/apa.17247. PMID: 38641985
Wakabayashi EA, Pantaleão AN, Avendanha RA, Brunheroto FB, Simões E Silva AC
Curr Med Chem 2023;30(2):203-219. doi: 10.2174/0929867329666220629142556. PMID: 35770397
Safdar A, Singh K, Sun RC, Nassr AA
Curr Opin Pediatr 2021 Apr 1;33(2):220-226. doi: 10.1097/MOP.0000000000001001. PMID: 33651757
Oliveira EA, Oliveira MC, Mak RH
Curr Opin Pediatr 2016 Apr;28(2):195-201. doi: 10.1097/MOP.0000000000000321. PMID: 26807623
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

Clinical prediction guides

Marzuillo P, Guarino S, Alfiero S, Annicchiarico Petruzzelli L, Arenella M, Baccelli F, Brugnara M, Corrado C, Delcaro G, Di Sessa A, Gallotta G, Lanari M, Lorenzi M, Malgieri G, Miraglia Del Giudice E, Pecoraro C, Pennesi M, Picassi S, Pierantoni L, Puccio G, Scozzola F, Taroni F, Tosolini C, Venditto L, Pasini A, La Scola C, Montini G; CAKUT‐UTI Study Group of the Italian Society of Pediatric Nephrology
Acta Paediatr 2024 Jul;113(7):1711-1719. Epub 2024 Apr 20 doi: 10.1111/apa.17247. PMID: 38641985
Wakabayashi EA, Pantaleão AN, Avendanha RA, Brunheroto FB, Simões E Silva AC
Curr Med Chem 2023;30(2):203-219. doi: 10.2174/0929867329666220629142556. PMID: 35770397
Woolf AS
Pediatr Nephrol 2022 Nov;37(11):2785-2791. Epub 2022 May 16 doi: 10.1007/s00467-022-05576-4. PMID: 35575937Free PMC Article
Pohl HG, Belman AB
Curr Pediatr Rev 2014;10(2):123-32. doi: 10.2174/157339631002140513102152. PMID: 25088266
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

Recent systematic reviews

Shahdadi H, Sheyback M, Rafiemanesh H, Balouchi A, Bouya S, Mahmoudirad G
Ann Glob Health 2019 Mar 13;85(1) doi: 10.5334/aogh.2391. PMID: 30873815Free PMC Article

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