The Incidence of Lysosomal Acid Lipase Deficiency in the Russian Population
Mikhail А. Fedyakov,
Yuriy А. Barbitov,
Elena A. Serebryakova,
Тatiana M. Pervunina,
Nikolay N. Vlasov,
Еlena А. Kornienko,
Аndrey S. Glotov,
Аndrey М. Sarana,
Sergey G. Shcherbak,
Оleg S. Glotov https://doi.org/10.15690/pf.v15i2.1876
Abstract
Lysosomal acid lipase deficiency is a rare hereditary progressive disease of lipid metabolism leading to the development of atherosclerosis, hepatosplenomegaly, liver cirrhosis, malabsorption, and other symptoms. In the absence of specific treatment, the prognosis for the patient is unfavourable, so timely diagnosis of the disease is extremely important. The incidence of lysosomal acid lipase deficiency in the Russian Federation is unknown. Given its rarity, there is a high probability of hypodiagnosis. In this regard, the presented results of the study of this disease prevalence are of particular relevance.
About the Authors
Mikhail А. Fedyakov
City Hospital No.40, St. Petersburg;
St. Petersburg State University, St. Petersburg
Russian Federation
Russian Federation
Yuriy А. Barbitov
St. Petersburg State University, St. Petersburg;
Institute of Bioinformatics, St. Petersburg
Russian Federation
Russian Federation
Elena A. Serebryakova
City Hospital No.40, St. Petersburg;
St. Petersburg State University, St. Petersburg;
North-Western State Medical University named after I.I. Mechnikov, St. Petersburg
Russian Federation
Russian Federation
Тatiana M. Pervunina
National Medical Research Center named after V.A. Almazov, St. Petersburg
Russian Federation
Russian Federation
Nikolay N. Vlasov
St. Petersburg State Pediatric Medical University, St. Petersburg
Russian Federation
Russian Federation
Еlena А. Kornienko
St. Petersburg State Pediatric Medical University, St. Petersburg
Russian Federation
Russian Federation
Аndrey S. Glotov
City Hospital No.40, St. Petersburg;
St. Petersburg State University, St. Petersburg
Russian Federation
Russian Federation
Аndrey М. Sarana
City Hospital No.40, St. Petersburg;
St. Petersburg State University, St. Petersburg
Russian Federation
Russian Federation
Sergey G. Shcherbak
City Hospital No.40, St. Petersburg;
St. Petersburg State University, St. Petersburg
Russian Federation
Russian Federation
Оleg S. Glotov
City Hospital No.40, St. Petersburg;
St. Petersburg State University, St. Petersburg;
Laboratory of Prenatal Diagnostics of the FSBSI «The Research Institute of Obstetrics, Gynecology, and Reproductology named after D.O.Ott», St. Petersburg
Russian Federation
Russian Federation
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Review
For citations:
Fedyakov M.А., Barbitov Yu.А., Serebryakova E.A., Pervunina Т.M., Vlasov N.N., Kornienko Е.А., Glotov А.S., Sarana А.М., Shcherbak S.G., Glotov О.S. The Incidence of Lysosomal Acid Lipase Deficiency in the Russian Population. Pediatric pharmacology. 2018;15(2):184-185. (In Russ.) https://doi.org/10.15690/pf.v15i2.1876
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