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
Russian Federation
A. I. Khavkin
Clinical Institute of Childhood, Ministry of Health of the Moscow Region; Belgorod National Research University
Russian Federation
Russian Federation
D. I. Masyuta
M. Gorky Donetsk State Medical University
Russian Federation
Russian Federation
G. V. Zueva
M. Gorky Donetsk State Medical University
Russian Federation
Russian Federation
O. A. Kurysheva
M. Gorky Donetsk State Medical University
Russian Federation
Russian Federation
O. E. Zhurbij
M. Gorky Donetsk State Medical University
Russian Federation
Russian Federation
References
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Review
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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