U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Hydronephrosis
MedGen UID:
42531
•Concept ID:
C0020295
•
Disease or Syndrome
Severe distention of the kidney with dilation of the renal pelvis and calices.
See: Feature record | Search on this feature
Renal hypoplasia
MedGen UID:
120571
•Concept ID:
C0266295
•
Congenital Abnormality
Hypoplasia of the kidney.
See: Feature record | Search on this feature
Congenital megaureter
MedGen UID:
451022
•Concept ID:
C0266324
•
Congenital Abnormality
A developmental disturbance with extreme ureteral dilatation.
See: Feature record | Search on this feature
Ureteropelvic junction obstruction
MedGen UID:
105482
•Concept ID:
C0521619
•
Anatomical Abnormality
Blockage of urine flow from the renal pelvis to the proximal ureter.
See: Feature record | Search on this feature
Hydroureter
MedGen UID:
101073
•Concept ID:
C0521620
•
Anatomical Abnormality
The distention of the ureter with urine.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Renal dysplasia
MedGen UID:
760690
•Concept ID:
C3536714
•
Congenital Abnormality
The presence of developmental dysplasia of the kidney.
See: Feature record | Search on this feature
Show allHide all

Professional guidelines

PubMed

Swiss consensus recommendations on urinary tract infections in children.
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
Integration of Genetic Testing and Pathology for the Diagnosis of Adults with FSGS.
Yao T, Udwan K, John R, Rana A, Haghighi A, Xu L, Hack S, Reich HN, Hladunewich MA, Cattran DC, Paterson AD, Pei Y, Barua M
Clin J Am Soc Nephrol 2019 Feb 7;14(2):213-223. Epub 2019 Jan 15 doi: 10.2215/CJN.08750718. PMID: 30647093Free PMC Article
Evaluation and management of hydronephrosis in the neonate.
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

Predicting outcomes in children with congenital anomalies of the kidney and urinary tract.
Matsell DG, Catapang M, Becknell B
Pediatr Nephrol 2023 Oct;38(10):3407-3415. Epub 2023 May 3 doi: 10.1007/s00467-023-05992-0. PMID: 37133803Free PMC Article
Swiss consensus recommendations on urinary tract infections in children.
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
Genetic spectrum of renal disease for 1001 Chinese children based on a multicenter registration system.
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
Congenital anomalies of the urinary tract.
Pohl HG, Belman AB
Curr Pediatr Rev 2014;10(2):123-32. doi: 10.2174/157339631002140513102152. PMID: 25088266
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

Congenital Solitary Functioning Kidney: A Review.
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
Swiss consensus recommendations on urinary tract infections in children.
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
Genetic spectrum of renal disease for 1001 Chinese children based on a multicenter registration system.
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
Evaluation and management of hydronephrosis in the neonate.
Oliveira EA, Oliveira MC, Mak RH
Curr Opin Pediatr 2016 Apr;28(2):195-201. doi: 10.1097/MOP.0000000000000321. PMID: 26807623
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

Therapy

Incremental hemodialysis in pediatric patients.
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
Kidney replacement therapy in neonates: utilization trends and outcomes.
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
Protocol and Baseline Data on Renal Autologous Cell Therapy Injection in Adults with Chronic Kidney Disease Secondary to Congenital Anomalies of the Kidney and Urinary Tract.
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
Lower Urinary Tract Dysfunction and Pediatric Renal Transplant.
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
Update on the approach of urinary tract infection in childhood.
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

Predicting outcomes in children with congenital anomalies of the kidney and urinary tract.
Matsell DG, Catapang M, Becknell B
Pediatr Nephrol 2023 Oct;38(10):3407-3415. Epub 2023 May 3 doi: 10.1007/s00467-023-05992-0. PMID: 37133803Free PMC Article
Congenital Solitary Functioning Kidney: A Review.
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
Evaluation and fetal intervention in severe fetal hydronephrosis.
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
Evaluation and management of hydronephrosis in the neonate.
Oliveira EA, Oliveira MC, Mak RH
Curr Opin Pediatr 2016 Apr;28(2):195-201. doi: 10.1097/MOP.0000000000000321. PMID: 26807623
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

Clinical prediction guides

Predicting outcomes in children with congenital anomalies of the kidney and urinary tract.
Matsell DG, Catapang M, Becknell B
Pediatr Nephrol 2023 Oct;38(10):3407-3415. Epub 2023 May 3 doi: 10.1007/s00467-023-05992-0. PMID: 37133803Free PMC Article
Congenital Solitary Functioning Kidney: A Review.
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
The term CAKUT has outlived its usefulness: the case for the prosecution.
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
Congenital anomalies of the urinary tract.
Pohl HG, Belman AB
Curr Pediatr Rev 2014;10(2):123-32. doi: 10.2174/157339631002140513102152. PMID: 25088266
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

Recent systematic reviews

Causes of Chronic Kidney Disease in Iranian Children: A Meta-Analysis and Systematic Review.
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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...