Buy (150 RUB)
Generate QR code
Open Access
Subscription or Fee Access
Current approaches to the diagnosis and treatment of lysosomal acid lipase deficiency
https://doi.org/10.21508/1027-4065-2023-68-1-105-109
Abstract
Lysosomal acid lipase deficiency is a chronic hereditary degenerative disease, substantially worsening quality of life and leading to lethal outcome. The condition is caused by a mutation of the LIPA gene, that is encoding lysosomal acid lipase, resulting in build-up of cholesterol esters and triglycerides. Clinical-pattern is quite variable: from rapidly worsening lethal infant form and severe infant cases with cirrhosis and liver dysfunction in adolescents to subclinical, mostly asymptomatic forms, manifesting in adults. Thus, major part of patients remains unexamined and the pathology itself undiagnosed, so the real incidence is unclear. This article describes clinical case of the diagnostics of lysosomal acid lipase deficiency in RNO-Alania. Efficiency and safety of enzyme substitution treatment is shown.
About the Authors
I. S. Tebieva
North-Ossetian State Medical Academy; Republican Children’s Clinical Hospital of the North Ossetia–Alania
Russian Federation
Russian Federation
Vladikavkaz
F. V. Bazrova
North-Ossetian State Medical Academy; Republican Children’s Clinical Hospital of the North Ossetia–Alania
Russian Federation
Russian Federation
Vladikavkaz
Yu. V. Gabisova
Republican Children’s Clinical Hospital of the North Ossetia–Alania
Russian Federation
Russian Federation
Vladikavkaz
S. V. Turieva
North-Ossetian State Medical Academy
Russian Federation
Russian Federation
Vladikavkaz
R. A. Zinchenko
Bochkov Research Center for Medical Genetics; Semashko National Research Institute of Public Health
Russian Federation
Russian Federation
Moscow
References
1. Baranov A.A., Namazova-Baranova L.S., Gundobina O.S., Mikhailova S.V., Zakharova E.Yu., Vishnyova E.A. et al. Deficiency of Lysosomic Acid Lipase: Clinical Recommendations for Child Health Care Delivery. Pediatricheskaya farmakologiya 2016; 13(3): 239–243. (in Russ.) DOI: 10.15690/pf.v13i3.1573
2. Degtyareva A.V., Puchkova A.A., Zhdanova S.I., Degtyarev D.N. Wolman’s disease is a severe infant form of lysosomal acid lipase deficiency. Neonatologiya: Novosti. Mneniya. Obucheniye 2019; 7(2): 42–51. (in Russ.) DOI: 10.24411/2308–2402–2019–12003
3. Bernstein D.L., Hülkova Н., Bialer M.G., Desnick R.J. Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease. J Hepatol 2013; 58 (6): 1230–1243. DOI: 10.1016/j.jhep.2013.02.014
4. Aguisanda F., Thorne N., Zheng W. Targeting Wolman Disease and Cholesteryl Ester Storage Disease: Disease Pathogenesis and Therapeutic Development. Cur Chem Genom Translat Med 2017; 11: 1–18. DOI: 10.2174/2213988501711010001
5. Valayannopoulos V., Mengel E., Brassier A., Grabowski G. Lysosomal acid lipase deficiency: Expanding differential diagnosis. Mol Genet Metabol 2016; 120(1–2): 62–66. DOI: 10.1016/j.ymgme.2016.11.002
6. Kamenets E.A., Pechatnikova N.L., Kakaulina V.S., Mikhaylova S.V., Strokova T.V., Zharkova M.S. et al. Lysosome acid lipase deficiency in Russian patients: molecular characteristic and epydemiology. Meditsinskaya Genetika. 2019; 18(8): 3–16. (in Russ.) DOI: 10.25557/2073–7998.2019.08.3–16
7. Pisciotta L., Fresa R., Bellocchio A., Pino E., Guido V., Cantafora A. Cholesteryl esterstorage disease (CESD) due to novel mutations in the LIPA gene. Mol Genet Metabol 2009; 97 (2): 143–148. DOI: 10.1016/j.ymgme.2009.02.007
8. Reiner Z., Guardamagna O., Nair D., Soran H., Hovingh K., Bertolini S. Lysosomal acid lipase deficiency — an under-recognized cause of dyslipidaemia and liver dysfunction. Atherosclerosis 2014; 235: 21–30. DOI: 10.1016/j.atherosclerosis.2014.04.003
9. Wagner K.H., Shiels R.G., Llang C.A. Khoei N.S., Bulmer A.C. Diagnostic criteria and contributors to Gilbert’s syndrome. Crit Rev Clin Lab Sci 2018; 55(2): 129–139. DOI: 10.1080/10408363.2018.1428526
Review
For citations:
Tebieva I.S., Bazrova F.V., Gabisova Yu.V., Turieva S.V., Zinchenko R.A. Current approaches to the diagnosis and treatment of lysosomal acid lipase deficiency. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2023;68(1):105-109. (In Russ.) https://doi.org/10.21508/1027-4065-2023-68-1-105-109
Views:
529
Email this article 