Affiliation:
1. North-Ossetian State Medical Academy; Republican Children’s Clinical Hospital of the North Ossetia–Alania
2. Republican Children’s Clinical Hospital of the North Ossetia–Alania
3. North-Ossetian State Medical Academy
4. Bochkov Research Center for Medical Genetics; Semashko National Research Institute of Public Health
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.
Publisher
The National Academy of Pediatric Science and Innovation
Subject
Pediatrics, Perinatology and Child Health
Reference9 articles.
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