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Experimental and Clinical Gastroenterology

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Cholesterol ester storage disease, own clinical observation of a family case of the disease

https://doi.org/10.31146/1682-8658-ecg-223-3-154-158

Abstract

Lysosomal acid lipase deficiency is an orphan autosomal recessive disease associated with the presence of mutations in the LIPA gene. Clinical manifestations of lysosomal acid lipase deficiency come in two main forms: Wolman’s disease and cholesterol ester storage disease. The article presents current information about the disease, describes the most characteristic clinical and laboratory signs, features of enzyme replacement therapy, outcomes and prognosis of the disease in children. The article also provides its own clinical observation of the family case of cholesterol ester storage disease in brothers.

About the Authors

A. V. Nalyotov
M. Gorky Donetsk State Medical University
Russian Federation


A. I. Khavkin
Clinical Institute of Childhood, Ministry of Health of the Moscow Region; Belgorod National Research University
Russian Federation


D. I. Masyuta
M. Gorky Donetsk State Medical University
Russian Federation


G. V. Zueva
M. Gorky Donetsk State Medical University
Russian Federation


O. A. Kurysheva
M. Gorky Donetsk State Medical University
Russian Federation


O. E. Zhurbij
M. Gorky Donetsk State Medical University
Russian Federation


References

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2. Aguisanda F., Thorne N., Zheng W. Targeting Wolman disease and cholesteryl ester storage disease: disease pathogenesis and therapeutic development. Curr Chem Genom Transl Med. 2017; 11: 1-18. doi: 10.2174/221398850171101000.

3. Strokova Т.V., Bagaeva M. E., Matinyan I. A. Lysosomal acid lipase deficiency. RMJ. 2017; 19: 1346-1351. (In Russ.)@@ Строкова Т. В., Багаева М. Э., Матинян И. А. Дефицит лизосомной кислой липазы. РМЖ. 2017; 19: 1346-1351.

4. Khavkin A.I., Komarova O. N. Liver damage in children with Wolman disease. Experimental and Clinical Gastroenterology. 2017; 1(137): 68-77. (In Russ.)@@ Хавкин А. И., Комарова О. Н. Поражения печени при болезни Вольмана у детей. Экспериментальная и клиническая гастроэнтерология. 2017; 1(137): 68-77.

5. Loskutova S.A., Belousova T. V., Nikulina A. B. The disease is the accumulation of cholesterol esters due to deficit of lysosomal acid lipase. Clinical case. Medical Council. 2018; 2: 238-241. (In Russ.) doi: 10.21518/2079-701X-2018-2-238-241.@@ Лоскутова С. А., Белоусова Т. В., Никулина А. Б. Дефицит лизосомной кислой липазы: болезнь накопления эфиров холестерина у ребенка раннего возраста. Клинический случай. Медицинский совет. 2018; 2: 238-241. doi: 10.21518/2079-701X-2018-2-238-241.


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For citations:


Nalyotov A.V., Khavkin A.I., Masyuta D.I., Zueva G.V., Kurysheva O.A., Zhurbij O.E. Cholesterol ester storage disease, own clinical observation of a family case of the disease. Experimental and Clinical Gastroenterology. 2024;(3):154-158. (In Russ.) https://doi.org/10.31146/1682-8658-ecg-223-3-154-158

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ISSN 1682-8658 (Print)