Preview

Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)

Advanced search
Open Access Open Access  Restricted Access Subscription or Fee Access

Perinatal form of Niemann–Pick disease type C on the background of substrate-reducing therapy

https://doi.org/10.21508/1027-4065-2023-68-5-73-77

Abstract

The article presents a clinical case of a child with a perinatal form of Niemann–Pick disease type C. The clinical manifestations were cholestasis syndrome, cytolysis, hepatosplenomegaly, muscle hypotension. Differential diagnostics was performed with toxic, cytomegalovirus, viral hepatitis, alpha-1-antitrypsin deficiency, autoimmune liver diseases, aminoacidopathies, Alajille syndrome. After Cholestasis panel genetic testing, a mutation in the NPC1 gene was detected. Biochemical diagnostics showed an increase in the concentration of lysosphingomyelin-509 and increased activity of chitotriosidase in dry blood spots. According to the Sanger sequencing of the NPC1 gene, a nucleotide substitution of chr18:21131617G>A was detected in a child in a homozygous state. According to vital indications (“off-label use”), the patient was prescribed substrate-reducing therapy with Miglustat. Relief of cholestasis syndrome, minimal cytolysis syndrome after administering the drug for 1 month may indicate good tolerability and effectiveness of therapy.

About the Authors

R. F. Rakhmaeva
Kazan State Medical University; Children’s Republican Clinical Hospital
Russian Federation

Kazan



G. I. Sageeva
Children’s Republican Clinical Hospital
Russian Federation

Kazan



N. A. Artykova
Children’s Republican Clinical Hospital
Russian Federation

Kazan



N. R. Mingacheva
Kazan State Medical University
Russian Federation

Kazan



N. M. Danilaeva
Kazan State Medical University
Russian Federation

Kazan



A. A. Kamalova
Kazan State Medical University; Children’s Republican Clinical Hospital
Russian Federation

Kazan



References

1. Association of Medical Geneticists, Union of Pediatricians of Russia. Clinical recommendations: Niemann–Pick disease type C. 2019; 59. (in Russ.) https://www.pediatr-russia.ru/information/klin-rek/deystvuyushchie-klinicheskie-rekomendatsii/НПСКР%202020.pdf / Ссылка активна на 1.08.2023.

2. Pacheco C.D., Lieberman A.P. The pathogenesis of Niemann–Pick type C disease: a role for autophagy? Expert Rev Mol Med 2008; 10: e26. DOI: 10.1017/s146239940800080x

3. Patterson M. Niemann–Pick Disease Type C. Editors: M.P. Adam, G.M. Mirzaa, R.A. Pagon et al. GeneReviews®. Seattle (WA): University of Washington, Seattle; 2000: 1–24

4. Devaraj R., Mahale R.R., Sindhu D.M., Stezin A., Kamble N., Holla V.V. et al. Spectrum of Movement Disorders in Niemann–Pick Disease Type C. Tremor Other Hyperkinet Mov 2022; 12(1): 28. DOI: 10.5334/tohm.701

5. López de Frutos L., Cebolla J. J., de Castro-Orós I., Irún P., Giraldo P. Neonatal cholestasis and Niemann-pick type C disease: A literature review. Clin Res Hepatol Gastroenterol 2021; 45(6): 1017–1057. DOI: 10.1016/j.clinre.2021.101757

6. Bolton S.C., Soran V., Marfa M.P., Imrie J., Gissen P., Jahnova H. et al. Clinical disease characteristics of patients with Niemann–Pick Disease Type C: findings from the International Niemann–Pick Disease Registry (INPDR). Orphanet J Rare Dis 2022; 17(1): 51. DOI: 10.1186/s13023–022–02200–4

7. La Concepción Fournier del Castillo M., Barrio S.C., Orduña B.E., Jiménez I.B., Marín L.L., Extremera V.C., Gutiérrez-Solana L.G. Long-term normalization of cognitive and psychopathological alterations in a juvenile Niemann–Pick type C case. Neurodegenerat Dis Manag 2020; 10(2): 69–76. DOI: 10.2217/nmt-2019–0022

8. Degtyareva A.V., Mihaylova S.V., Zaharova E.Yu., Tumanova E.L., Kulikova N.V., Proshlyakova T.Yu. Neonatal cholestasis — one of the earliest manifestations of Niemann–Pick disease type C. Pediatriya 2017; 96(1): 164–170. (in Russ.)

9. Degtyareva A.V., Proshlyakova T.Y., Gautier M.S., Degtyarev D.N., Kamenets E.A., Baydakova G.V. et al. Оxysterol/chitotriosidase based selective screening for Niemann–Pick type C in infantile cholestasis syndrome patients. BMC Med Genet 2019; 20(1):123 DOI: 10.1186/s12881–019–0857–0

10. Bem E.V., Fedorova L.A., Sajkova M.Yu., Reutskaia O.G. Niemann–Pick disease in a child with congenital cytomegalovirus infection. Pediatr (St. Petersburg) 2020; 11(5): 67–72. (in Russ.) DOI: 10.17816/PED11567–72

11. Park S.W., Park J.H., Moon H.J., Shin M., Moon J.S., Ko J.S. Niemann–Pick Disease Type C Diagnosed Using Neonatal Cholestasis Gene Panel. Korean J Gastroenterol 2021; 78(4): 240–244. DOI: org/10.4166/kjg.2021.079

12. Héron B., Valayannopoulos V., Baruteau J., Chabrol B., Ogier H., Latour P. et al. Miglustat therapy in the French cohort of paediatric patients with Niemann–Pick disease type C. Orphanet J Rare Dis 2012; 7: 36. DOI: 10.1186/s13023–015–0284-z


Review

For citations:


Rakhmaeva R.F., Sageeva G.I., Artykova N.A., Mingacheva N.R., Danilaeva N.M., Kamalova A.A. Perinatal form of Niemann–Pick disease type C on the background of substrate-reducing therapy. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2023;68(5):73-77. (In Russ.) https://doi.org/10.21508/1027-4065-2023-68-5-73-77

Views: 670


ISSN 1027-4065 (Print)
ISSN 2500-2228 (Online)