A family case of fabry disease in the practice of a pediatric rheumatologist
https://doi.org/10.31146/2949-4664-apps-2-1-155-162
Abstract
Fabry disease is a rare hereditary disease related to lysosomal storage diseases, linked to the X chromosome. Fabry disease leads to disruption of glycosphingolipid metabolism due to deficiency or absence of the enzyme α-galactosidase A. Fabry disease is a multisystem progressive disease. One of the first clinical manifestations of Fabry disease is pain in the fingers, toes, palms and feet, and sometimes imitates rheumatological diseases, which requires rheumatologists to have sufficient knowledge about this pathology. The article presents a family case of diagnosis of Fabry disease in the practice of a pediatric rheumatologist.
About the Authors
E. I. Cheremnykh
Perm Regional Children’s Clinical Hospital
Russian Federation
Russian Federation
V. V. Shadrina
Perm State Medical University named after. ak. E. A. Wagner
Russian Federation
Russian Federation
L. I. Cheremnykh
Perm Regional Children’s Clinical Hospital
Russian Federation
Russian Federation
References
1. «Online Mendelian Inheritance in Man (OMIM)». Available at: https://www.omim.org/entry/301500. (Accessed: 05.02.2024.)@@ Каталог «Online Mendelian Inheritance in Man (OMIM)» https://www.omim.org/entry/301500. Дата обращения 05.02.2024.
2. Li X., Ren X., Zhang Y., Ding L., Huo M., Li Q. Fabry disease: Mechanism and therapeutics strategies. Front Pharmacol. 2022 Oct 26;13:1025740. doi: 10.3389/fphar.2022.1025740.
3. [Fabry disease]. Federal clinical guidelines 2019. (in Russ.) Available at: https://www.pediatr-russia.ru. (Accessed: 02/05/2024).@@ Федеральные клинические рекомендации «Болезнь Фабри», 2019. https://www.pediatr-russia.ru. Дата обращения 05.02.2024.
4. Sánchez R., Ripoll-Vera T., López-Mendoza M. et al. The Spanish Fabry women study: a retrospective observational study describing the phenotype of females with GLA variants. Orphanet J Rare Dis. 2023 Jan 9;18(1):8. doi: 10.1186/s13023-022-02599-w.
5. Vardarli I., Weber M., Rischpler C., Führer D., Herrmann K., Weidemann F. Fabry Cardiomyopathy: Current Treatment and Future Options. J Clin Med. 2021 Jul 7;10(14):3026. doi: 10.3390/jcm10143026.
6. Moiseev S.V., Mershina E. A., Sinitsin V. E. et al. Cardiac magnetic resonance imaging in patients with Fabry disease. Clin. Pharmacol. Ther. 2017, 26 (3), 13-20. (in Russ.)@@ Моисеев С. В., Мершина Е. А., В. Е. Синицын и др. Магнитно-резонансная томография в диагностике поражения сердца при болезни Фабри. Клиничекая фармакология и терапия 2017;26(3):13-20.
7. Carnicer-Cáceres C., Arranz-Amo J.A., Cea-Arestin C. et al. Biomarkers in Fabry Disease. Implications for Clinical Diagnosis and Follow-Up. J Clin Med. 2021 Apr 13;10(8):1664. doi: 10.3390/jcm10081664.
8. Baas K.P.A., Everard A. J., Körver S., van Dussen L. et al. Progressive Changes in Cerebral Apparent Diffusion Values in Fabry Disease: A 5-Year Follow-up MRI Study. AJNR Am J Neuroradiol. 2023 Oct;44(10):1157-1164. doi: 10.3174/ajnr.A8001.
9. Yu B., Atta M. G., Brennan D. C., Kant S. Outcomes and management of kidney transplant recipients with Fabry disease: a review. J Nephrol. 2024 Jan 16. doi: 10.1007/s40620-023-01853-z.
10. Pieroni M., Moon J. C., Arbustini E. et al. Cardiac Involvement in Fabry Disease: JACC Review Topic of the Week. J Am Coll Cardiol. 2021 Feb 23;77(7):922-936. doi: 10.1016/j.jacc.2020.12.024.
11. Moiseev S.V., Novikov P. I., Bulanov N. M., Moiseev A. S., Karovaikina E. A., Fomin V. V. Fabry disease in rheumatology practice. Clin. Pharmacol. Ther. 2018, 27 (1), 39-45. (in Russ.)@@ Моисеев С. В., Новиков П. И., Буланов Н. М. и др. Болезнь Фабри в практике ревматолога. Клиническая фармакология и терапия 2018; 17(1):1-45.
12. Miller J.J., Kanack A. J., Dahms N. M. Progress in the understanding and treatment of Fabry disease. Biochim Biophys Acta Gen Subj. 2020 Jan;1864(1):129437. doi: 10.1016/j.bbagen.2019.129437.
13. Firsov K. V., Kotov A. S. The neurological manifestations of Fabry disease. A review. Zhurnal Nevrologii i Psikhiatrii imeni S. S. Korsakova. 2016;116(9):98-105. (In Russ.) doi: 10.17116/jnevro20161169198-105.@@ Фирсов К. В., Котов А. С. Неврологические проявления болезни Фабри. Обзор. Журнал Неврологии и Психиатрии имени С. С. Корсакова. 2016;116(9):98-105. doi: 10.17116/jnevro20161169198-105.
14. Rozenfeld P., Neumann P. M. Treatment of fabry disease: current and emerging strategies. Curr Pharm Biotechnol. 2011 Jun;12(6):916-22. doi: 10.2174/138920111795542705.
15. Dinu I.R., Firu Ş. G. Fabry disease - current data and therapeutic approaches. Rom J Morphol Embryol. 2021 Jan-Mar;62(1):5-11. doi: 10.47162/RJME.62.1.01.
16. Spada M., Baron R., Elliott P. M., Falissard B., Hilz M. J., Monserrat L., Tøndel C., Tylki-Szymańska A., Wanner C., Germain D. P. The effect of enzyme replacement therapy on clinical outcomes in paediatric patients with Fabry disease - A systematic literature review by a European panel of experts. Mol Genet Metab. 2019 Mar;126(3):212-223. doi: 10.1016/j.ymgme.2018.04.007.
17. Moiseev S.V., Karovaikina E. A., Bulanov N. M. et al. Predictors of clinical events in patients with Fabry disease: the role of chronic kidney disease. Therapeutic Archive. 2019; 91 (6): 40-46. (in Russ.) doi: 10.26442/00403660.2019.06.000251.@@ Моисеев С. В., Каровайкина Е. А., Буланов Н. М. и др. Предикторы клинических исходов болезни Фабри: роль хронической болезни почек. Терапевтический архив. 2019; 91 (6): 40-46. doi: 10.26442/00403660.2019.06.000251.
18. Semyachkina A. N., Nikolaeva E. A., Zakharova E. Yu., Kharabadze M. N., Davydova Yu.I., Bochenkov S. V., Kuramagomedova R. G. Fabry’s disease in children: analysis of personal observations, treatment possibilities. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2018;63(1):71-77. (In Russ.) doi: 10.21508/1027-4065-2018-63-1-71-77.@@ Семячкина А. Н., Николаева Е. А., Захарова Е. Ю., Харабадзе М. Н., Давыдова Ю. И., Боченков С. В., Курамагомедова Р. Г. Болезнь Фабри у детей: анализ собственных наблюдений, возможности лечения. Рос вестн перинатол и педиатр 2018; 63:(1): 71-77. doi: 10.21508/1027-4065-2018-63-1-71-77.
19. Mashkunova OV, Isabekova AH, Botabekova AZ, Novikov PI. Multisystem lesions in orphan diseases: rheumatological aspects of Fabry’s disease. Case report. Terapevticheskii Arkhiv (Ter. Arkh.). 2023;95(6):505-510. (in Russ.) doi: 10.26442/00403660.2023.06.202244.@@ Машкунова О. В., Исабекова А. Х., Ботабекова А. Ж., Новиков П. И. Поражения при орфанных заболеваниях: ревматологические аспекты болезни Фабри. Терапевтический архив. 2023;95(6):505-510. doi: 10.26442/00403660.2023.06.202244.
20. Paim-Marques L., Cavalcante A. V., Verçosa I., Carneiro P., Souto-Maior M., Marques E., Appenzeller S. Frequency of Fabry disease in a juvenile idiopathic arthritis cohort. Pediatr Rheumatol Online J. 2021 Jun 12;19(1):91. doi: 10.1186/s12969-021-00563-9.
21. Nampoothiri S., Yesodharan D., Bhattacherjee A. et al. Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients. JIMD Rep. 2020 Aug 15;56(1):82-94. doi: 10.1002/jmd2.12156
Review
For citations:
Cheremnykh E.I., Shadrina V.V., Cheremnykh L.I. A family case of fabry disease in the practice of a pediatric rheumatologist. Archives of Pediatrics and Pediatric Surgery. 2024;2(1):155-162. (In Russ.) https://doi.org/10.31146/2949-4664-apps-2-1-155-162
Views:
244
Email this article 