Diseases and syndromes associated with unilateral renal agenesis in children
https://doi.org/10.46563/1560-9561-2024-27-1-66-70
EDN: ewwuxu
Abstract
The incidence of congenital malformations is increasing annually, with a single kidney developmental disorder accounting for 4–8% of urinary system malformations. If the contralateral organ is normal, agenesis of the kidney is not clinically apparent and is usually detected during a preventive examination of the child or during an examination for combined anomalies of the genitourinary and urinary system.This pathology occurs due to a disruption of the interstitial interaction between the ureteral bud and the metanephrogenic tissue from 4th to 8th gestation weeks. By this time, the mesonephral (Wolff) ducts are already fully formed, in contrast to the paramesonephral (Müllerian) ducts, which develop only by the 5th week of the intrauterine period, that is, in the period of high risk of malformations of the urinary system. Accordingly, anomalies of the female genital system are more common than those of the male one, with concomitant agenesis of the ipsilateral kidney. Diagnosis of unilateral agenesis of the kidney is possible when performing routine antenatal screening or conducting preventive examinations at decreed dates. In girls, the most common genital anomalies are true unicornuate uterus (65%), bicornuate uterus with one rudimentary horn (7.3%), atrophy of one fallopian tube and ovary, absence or hypoplasia of the vagina, and vaginal doubling. In boys with unilateral agenesis of the kidney, the seminal vesicles, prostate gland, and testicular appendage may be rudimentary or absent. Agenesis of the kidney is a component of such genetic syndromes as OHVIRA, Kallman, Zinner, and Mayer–Rokitansky–Küster–Hauser syndromes. It is also combined with other congenital anomalies of the kidney and urinary tract and extrarenal anomalies, including mainly malformations of the gastrointestinal tract, heart and musculoskeletal system. Consequently, children with this pathology should be fully screened to rule out associated malformations and anomalies.
Acknowledgement. The study had no financial support.
Conflict of interest. The author has no conflicts of interest to declare.
Received: December 26, 2023
Accepted: January 30, 2024
Published: February 28, 2024
About the Author
Anastasia A. Romashova
National Medical Research Center for Children’s Health
Russian Federation
Russian Federation
Clinical Resident in Pediatric Urology Andrology Department, National Medical Research Center for Children’s Health, Moscow, Moscow, 119991, Russian Federation
e-mail: anastasi_romashova@mail.ru
References
1. Jelin A. Renal agenesis. Am. J. Obstet. Gynecol. 2021; 225(5): B28–30. https://doi.org/10.1016/j.ajog.2021.06.048
2. El Hasbani G., Assaker R., Ahmad Y.J., Parashar K., Thomas G.A., Maurer K., et al. Renal agenesis associated with contralateral ectopic ureter and hydroureteronephrosis. Radiol. Case Rep. 2020; 16(3): 430–2. https://doi.org/10.1016/j.radcr.2020.12.022
3. Acién P., Acién M. Renal agenesis, associated genital malformations, and responsible genes. Fertil. Steril. 2021; 116(5): 1370–1. https://doi.org/10.1016/j.fertnstert.2021.08.042
4. Costigan C.S., Rosenblum N.D. Anatomy and embryology of congenital surgical anomalies: congenital anomalies of the kidney and urinary tract. Semin. Pediatr. Surg. 2022; 31(6): 151232. https://doi.org/10.1016/j.sempedsurg.2022.151232
5. Chapagain A., Paudel K., Mani Pokhrel S., Prasad Sapkota R. Obstructed hemivagina and ipsilateral renal agenesis syndrome: A case report. JNMA J. Nepal Med. Assoc. 2022; 60(250): 562–4. https://doi.org/10.31729/jnma.7444
6. Marzuillo P., Polito C. Congenital solitary kidney in childhood: not so bad. Pediatr. Nephrol. 2018; 33(4): 723–4. https://doi.org/10.1007/s00467-017-3726-0
7. Briosa F., Valsassina R., Mira C., Zagalo A. Zinner and Mayer–Rokitansky–Küster–Hauser syndromes: when unilateral renal agenesis meets genital anomalies. BMJ Case Rep. 2019; 12(5): e229034. https://doi.org/10.1136/bcr-2018-229034
8. In ‘t Woud G.S., Westland R., Feitz W.F.J., Roeleveld N., van Wijk J.A.E., van der Zanden L.F.M., et al. Clinical management of children with a congenital solitary functioning kidney: overview and recommendations. Eur. Urol. Open Sci. 2021; 25: 11–20. https://doi.org/10.1016/j.euros.2021.01.003
9. Marzuillo P., Guarino S., Di Sessa A., Rambaldi P.F., Reginelli A., Vacca G., et al. Congenital solitary kidney from birth to adulthood. J. Urol. 2021; 205(5): 1466–75. https://doi.org/10.1097/JU.0000000000001524
10. Davidovits M., Cleper R., Eizenberg N., Hocherman O., Mashiach R. Outcomes of prenatally diagnosed solitary functioning kidney during early life. J. Perinatol. 2017; 37(12): 1325–9. https://doi.org/10.1038/jp.2017.143
11. Fukuoka K., Wilting J., Rodríguez-Vázquez J.F., Murakami G., Ishizawa A., Matsubara A. The embryonic ascent of the kidney revisited. Anat. Rec. (Hoboken). 2019; 302(2): 278–87. https://doi.org/10.1002/ar.23930
12. Huber C., Shazly S.A., Blumenfeld Y.J., Jelin E., Ruano R. Update on the prenatal diagnosis and outcomes of fetal bilateral renal agenesis. Obstet. Gynecol. Surv. 2019; 74(5): 298–302. https://doi.org/10.1097/OGX.0000000000000670
13. Rajaian S., Murugasen L., Jain D., Chakravarthy Narasimhachar S. Müllerianosis of the urinary bladder with unilateral complete renal agenesis: a rare coincidental finding causing delayed presentation. BMJ Case Rep. 2020; 13(7): e235217. https://doi.org/10.1136/bcr-2020-235217
14. Güngör T., Yazılıtaş F., Çakıcı E.K., Ekşioğlu A.S., Çelikkaya E., Karakaya D., et al. Retrospective evaluation of children with unilateral renal agenesis. Pediatr. Nephrol. 2021; 36(9): 2847–55. https://doi.org/10.1007/s00467-021-05027-6
15. Acién P., Acién M. The presentation and management of complex female genital malformations. Hum. Reprod. Update. 2016; 22(1): 48–69. https://doi.org/10.1093/humupd/dmv048
16. Van Dam, Mark J.C.M., Zegers B.S.H.J., Schreuder M.F. Case report: uterine anomalies in girls with a congenital solitary functioning kidney. Front. Pediatr. 2021; 9: 791499. https://doi.org/10.3389/fped.2021.791499
17. Pereira N., Stewart J.D., Melnick A.P. Congenital unilateral fallopian tube and renal agenesis in a patient with primary infertility. J. Minim. Invasive Gynecol. 2018; 25(2): 316–7. https://doi.org/10.1016/j.jmig.2017.03.020
18. Friedman M.A., Aguilar L., Heyward Q., Wheeler C., Caldamone A. Screening for Mullerian anomalies in patients with unilateral renal agenesis: Leveraging early detection to prevent complications. J. Pediatr. Urol. 2018; 14(2): 144–9. https://doi.org/10.1016/j.jpurol.2018.01.011
19. Sorour S., Ferguson C., Wilson M.P., Low G. Unilateral renal agenesis, blind-ended ureter, and ectopic ureterocele inserting into the seminal vesicle: A very rare developmental association. Urol. Case Rep. 2023; 50: 102505. https://doi.org/10.1016/j.eucr.2023.102505
20. Marzuillo P., Polito C. The dilemma of micturating cystourethrogram for congenital solitary kidney. Pediatr. Nephrol. 2020; 35(7): 1359–61. https://doi.org/10.1007/s00467-020-04547-x
21. Gau S.Y., Sheu J.N., Wang X.A., Tsai J.D. Unilateral renal agenesis and contralateral hydroureteronephrosis in a boy with tuberous sclerosis complex. Pediatr. Neonatol. 2023; 64(4): 491–2. https://doi.org/10.1016/j.pedneo.2023.02.004
22. Houat A.P., Guimarães C.T.S., Takahashi M.S., Rodi G.P., Gasparetto T.P.D., Blasbalg R., et al. Congenital anomalies of the upper urinary tract: A comprehensive review. Radiographics. 2021; 41(2): 462–86. https://doi.org/10.1148/rg.2021200078
23. Plutecki D., Kozioł T., Bonczar M., Ostrowski P., Skorupa A., Matejuk S., et al. Renal agenesis: A meta-analysis of its prevalence and clinical characteristics based on 15 641 184 patients. Nephrology (Carlton). 2023; 28(10): 525–33. https://doi.org/10.1111/nep.14190
24. Lecka-Ambroziak A., Skobejko-Włodarska L., Ruta H. The need for earlier diagnosis of obstructed hemivagina and ipsilateral renal agenesis/anomaly (OHVIRA) syndrome in case of renal agenesis in girls-case report and review of the literature. J. Clin. Med. 2023; 12(23): 7284. https://doi.org/10.3390/jcm12237284
25. Xu Q., Wu H., Zhou L., Xie J., Zhang W., Yu H., et al. The clinical characteristics of Chinese patients with unilateral renal agenesis. Clin. Exp. Nephrol. 2019; 23(6): 792–8. https://doi.org/10.1007/s10157-019-01704-x
26. Hutchinson K.A., Halili L., Guerra A., Geier P., Keays M., Guerra L. Renal function in children with a congenital solitary functioning kidney: A systematic review. J. Pediatr. Urol. 2021; 17(4): 556–65. https://doi.org/10.1016/j.jpurol.2021.03.001
27. Gressot G., Huegli S., Wilhelm-Bals A., Ponte B. Solitary kidney: a risk factor for hypertension. Rev. Med. Suisse. 2023; 19(841): 1651–5. https://doi.org/10.53738/REVMED.2023.19.841.1651 (in French)
28. Radhakrishna V., Govindarajan K.K., Sambandan K., Jindal B., Naredi B. Solitary functioning kidney in children: clinical implications. J. Bras. Nefrol. 2018; 40(3): 261–5. https://doi.org/10.1590/1678-4685-jbn-3942
29. Kim S., Chang Y., Lee Y.R., Jung H.S., Hyun Y.Y., Lee K.B., et al. Solitary kidney and risk of chronic kidney disease. Eur. J. Epidemiol. 2019; 34(9): 879–88. https://doi.org/10.1007/s10654-019-00520-7
30. Moreira A., Carvalho A., Portugal I., Jesus J.M. Complete dorsal pancreatic agenesis and unilateral renal agenesis. Radiol. Case Rep. 2017; 13(1): 68–71. https://doi.org/10.1016/j.radcr.2017.10.025
31. Bhandari A., Mandal S. A case of dorsal agenesis of pancreas associated with unilateral renal agenesis, unicornuate uterus, and ovarian ectopia: A brief review and learning points. Indian J. Radiol. Imaging. 2020; 30(3): 395–9. https://doi.org/10.4103/ijri.IJRI_165_19
32. Kim S.J., Shim S.Y., Cho H.H., Park M.H., Lee K.A. Prenatal diagnosis of fetal obstructed hemivagina and ipsilateral renal agenesis (OHVIRA) syndrome. Medicina (Kaunas). 2023; 59(4): 703. https://doi.org/10.3390/medicina59040703
33. Malarazhagan V., Veerasingham M., Sivanesan K. Right-sided obstructed hemivagina ipsilateral renal agenesis (OHVIRA): A case report. Case Rep. Womens Health. 2020; 26: e00185. https://doi.org/10.1016/j.crwh.2020.e00185
34. Alieva K.Kh., Kokhreidze N.A., Sukhotskaya A.A., Bairov V.G., Skripnik A.Yu. Herlyn–Werner–Wunderlich syndrome in the prepubescent period (literature review and clinical observations). Andrologiya i genital’naya khirurgiya. 2020; 21(4): 60–7. https://doi.org/10.17650 /2070-9781-2020-21-4-60-67 https://elibrary.ru/qfkzwe (in Russian)
35. Yu J.H., Lee S.R., Choi H., Kim K.S., Kang B.M. A new case of Herlyn–Werner–Wunderlich syndrome: uterine didelphys with unilateral cervical dysgenesis, vaginal agenesis, cervical distal ureteral remnant fistula, ureterocele, and renal agenesis in a patient with contralateral multicystic dysplastic kidney. Diagnostics (Basel). 2021; 12(1): 83. https://doi.org/10.3390/diagnostics12010083
36. Alnæs M., Melle K.O. Kallmann syndrome. Tidsskr. Nor. Laegeforen. 2019; 139(17). https://doi.org/10.4045/tidsskr.19.0370
37. Zeng W., Li J., Wang X., Jiang F., Men M. ANOS1 variants in a large cohort of Chinese patients with congenital hypogonadotropic hypogonadism. Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2022; 47(7): 847–57. https://doi.org/10.11817/j.issn.1672-7347.2022.220071
38. Abakar D., Badi F.E., Sabiri M., El Manjra S., Lezar S., Essodegui F. Zinner syndrome. Eur. J. Case Rep. Intern. Med. 2021; 8(7): 002628. https://doi.org/10.12890/2021_002628
39. Kumar S., G K.I., Khalil-Khan A., Arul Pitchai A.D.P., Sathiamoorthy R., Raju E. Zinner syndrome. Cureus. 2022; 14(11): e31308. https://doi.org/10.7759/cureus.31308
40. Bearrick E.N., Husmann D.A. Screening for Zinner syndrome in patients with a congenitally solitary kidney: lessons learned. J. Urol. 2023; 210(6): 888–98. https://doi.org/10.1097/JU.0000000000003700
41. Sibirskaya E.V., Karachentsova I.V., Panasenko T.S. Mayer–Rokitansky–Küster–Hauser syndrome. Effektivnaya farmakoterapiya. 2022; 18(24): 38–42. https://doi.org/10.33978/2307-3586-2022-18-24-38-42 https://elibrary.ru/erdowa (in Russian)
42. Liszewska-Kapłon M., Strózik M., Kotarski Ł., Bagłaj M., Hirnle L. Mayer–Rokitansky–Küster–Hauser syndrome as an interdisciplinary problem. Adv. Clin. Exp. Med. 2020; 29(4): 505–11. https://doi.org/10.17219/acem/118850
Review
For citations:
Romashova A.A. Diseases and syndromes associated with unilateral renal agenesis in children. Russian Pediatric Journal. 2024;27(1):66-70. (In Russ.) https://doi.org/10.46563/1560-9561-2024-27-1-66-70. EDN: ewwuxu
Views:
195
Email this article 