Buy (150 RUB)
|Generate QR code
Open Access
Subscription or Fee Access
Nephronophthisis type 1 in an adolescent girl: peculiarities of diagnosis and course
https://doi.org/10.21508/1027-4065-2025-70-1-82-87
Abstract
Nephronophthisis type 1, juvenile (OMIM 256100) is a rare ciliopathy with an autosomal recessive type of inheritance, which is the most common genetic cause of terminal chronic renal failure in children and young adults. The development of this pathology is caused by mutations in the NPHP1 gene (homozygous or compound heterozygous), responsible for the structure and function of the nephrocystin-1 protein in the primary cilium. The average age of onset of end-stage kidney disease in the juvenile form of nephronophthisis is 13 years. Patients with nephronophthisis rarely pay attention to the first characteristic clinical manifestations of the disease, such as polyuria and polydipsia, hyposthenuria, anemia, which leads to late diagnosis of the disease at the stage of chronic renal failure. The article presents a clinical observation of a 14-year-old female patient with manifestation of nephronophthisis type 1 with polyuria and polydipsia, hyposthenuria. Our observation demonstrates the initial manifestations and progression of chronic kidney disease (chronic kidney disease stage 3B) in a 14-year-old proband with juvenile nephronophthisis type 1 due to a mutation in the NPHP1 gene.
About the Authors
N. M. Zaikova
Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University; Institute of Continuing Education and Professional Development Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
Moscow
V. A. Magon
Institute of Continuing Education and Professional Development Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
Moscow
M. P. Safonova
Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
Moscow
L. S. Baleva
Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
Moscow
References
1. Srivastava S., Sayer J.A. Nephronophthisis. J Pediatr Genet 2014; 3(2): 103–114. DOI: 10.3233/PGE-14086
2. Hildebrandt F., Attanasio M., Otto E. Nephronophthisis: disease mechanisms of a ciliopathy. J Am SocNephrol 2009; 20(1): 23–35. DOI: 10.1681/ASN.2008050456
3. Luo F., Tao Y.H. Nephronophthisis: A review of genotype-phenotype correlation. Nephrology (Carlton) 2018; 23(10): 904–911. DOI: 10.1111/nep.13393
4. Chen F., Dai L., Zhang J., Li F., Cheng J., Zhao J., Zhang B. A case report of NPHP1 deletion in Chinese twins with nephronophthisis. BMC Med Genet 2020; 21(1): 84. DOI: 10.1186/s12881–020–01025-x
5. Simms R.J., Hynes A.M., Eley L., Sayer J.A. Nephronophthisis: a genetically diverse ciliopathy. Int J Nephrol 2011; 2011: 527137. DOI: 10.4061/2011/527137
6. Srivastava S., Molinari E., Raman S., Sayer J.A. Many Genes-One Disease? Genetics of Nephronophthisis (NPHP) and NPHP-Associated Disorders. Front Pediatr 2018; 5(5): 287. DOI: 10.3389/fped.2017.00287
7. OMIM — Online Mendelian Inheritance in Man https:// omim.org/entry/256100?search=256100&highlight=256100 Ссылка активна на 16.12.2024
8. König J., Kranz B., König S., Schlingmann K.P., Tönshoff B., Titieni A., et al. Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies. Clin J Am Soc Nephrol 2017; 12(12): 1974–1983. DOI: 10.2215/CJN.01280217
9. Wolf M.T. Nephronophthisis and related syndromes. Curr Opin Pediatr 2015; 27(2): 201–211. DOI: 10.1097/MOP.0000000000000194
10. Petzold F., Billot K., Chen X., Henry C., Filhol E., Martin Y., et al. The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies. Kidney Int 2023; 104(2): 378–387. DOI: 10.1016/j.kint.2023.05.007
11. Hildebrandt F., Zhou W. Nephronophthisis-associated ciliopathies. J Am Soc Nephrol 2007; 18(6): 1855–1871. DOI: 10.1681/ASN.2006121344
12. Halbritter J., Porath J.D., Diaz K.A., Braun D.A., Kohl S., Chaki M., et al. Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. Hum Genet 2013; 132(8): 865–884. DOI: 10.1007/s00439–013–1297–0
13. Braun D.A., Schueler M., Halbritter J., Gee H.Y., Porath J.D., Lawson J.A., et al. Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity. Kidney Int 2016; 89(2): 468–475. DOI: 10.1038/ki.2015.317
14. Blowey D.L., Querfeld U., Geary D., Warady B.A., Alon U. Ultrasound findings in juvenile nephronophthisis. Pediatr Nephrol 1996; 10(1): 22–24. DOI: 10.1007/BF00863431
15. Konrad M., Saunier S., Heidet L., Silbermann F., Benessy F., Calado J., et al. Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis. Hum Mol Genet 1996; 5(3): 367–371. DOI: 10.1093/hmg/5.3.367
16. Andreeva E.F., Savenkova N.D. Nephronophthisis in children. Hereditary kidney diseases in children. Editor Savenkova N.D. St. Petersburg: Levsha, Saint Petersburg, 2020; 299–309. (in Russ.)
17. Safonova M.P., Zaikova N.M., Serebryakova O.A., Potrokhova E.A., Baleva L.S. Rossiyskiy Vestnik Perinatologii i Pediatrii 2024; 6(69): 79–84. (in Russ.) DOI: 10.21508/1027–4065–2024–69–6–79–84
18. Ala-Mello S., Kivivuori S.M., Rönnholm K.A., Koskimies O., Siimes M.A. Mechanism underlying early anaemia in children with familial juvenile nephronophthisis. Pediatr Nephrol 1996; 10(5): 578–581. DOI: 10.1007/s004670050164
19. Hildebrandt F., Strahm B., Nothwang H.G., Gretz N., Schnieders B., Singh-Sawhney I., et al. Molecular genetic identification of families with juvenile nephronophthisis type 1: rate of progression to renal failure. APN Study Group. Arbeitsgemeinschaft für Pädiatrische Nephrologie. Kidney Int 1997; 51(1): 261–269. DOI: 10.1038/ki.1997.31
20. Christ-Crain M., Gaisl O. Diabetes insipidus. Presse Med 2021; 50(4): 104093. DOI: 10.1016/j.lpm.2021.104093
21. Duicu C., Pitea A.M., Săsăran O.M., Cozea I., Man L., Bănescu C. Nephrogenic diabetes insipidus in children (Review). Exp Ther Med 2021; 22(1): 746. DOI: 10.3892/etm.2021.10178
22. Nigro N., Grossmann M., Chiang C., Inder W.J. Polyuria-polydipsia syndrome: a diagnostic challenge. Intern Med J 2018; 48(3): 244–253. DOI: 10.1111/imj.13627
23. Primary Polydipsia Ko A.R., Kim S.J., Jung M.K., Kim K.E., Chae H.W., Kim D.H., et al. Hypotonic hyponatremia by primary polydipsia caused brain death in a 10-year-old boy. Ann Pediatr Endocrinol Metab 2015; 20(3): 166–169. DOI: 10.6065/apem.2015.20.3.166
Review
For citations:
Zaikova N.M., Magon V.A., Safonova M.P., Baleva L.S. Nephronophthisis type 1 in an adolescent girl: peculiarities of diagnosis and course. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2025;70(1):82-87. (In Russ.) https://doi.org/10.21508/1027-4065-2025-70-1-82-87
Views:
243
Email this article 