Familial chylomicronemia syndrome in children and adolescents: diagnosis and treatment

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Familial chylomicronemia syndrome is a rare inherited disease. Recessive mutations in genes encoding lipoprotein lipase or modulator proteins result in loss of enzyme function. As a result, the removal of triglyceride-rich lipoproteins from plasma is impaired, severe hypertriglyceridemia develops, and the risk of acute pancreatitis sharply increases. The mainstay of treatment for patients with familial chylomicronemia syndrome is a specialized, very low-fat diet.

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Irina Pshenichnikova

Russian Medical Academy of Continuous Professional Education

Email: PshenichnikovaII@rmapo.ru
ORCID iD: 0000-0002-0058-3803

Cand. Sci. (Med.), Russian Medical Academy of Continuous Professional Education

俄罗斯联邦, Moscow

Irina Zakharova

Russian Medical Academy of Continuous Professional Education

编辑信件的主要联系方式.
Email: zakharova-rmapo@yandex.ru
ORCID iD: 0000-0003-4200-4598

D. Sci. (Med.), Prof., Russian Medical Academy of Continuous Professional Education

俄罗斯联邦, Moscow

Ismail Osmanov

Bashlyaeva Children's City Clinical Hospital

Email: dgkb-bashlyaevoy@zdrav.mos.ru
ORCID iD: 0000-0003-3181-9601

D. Sci. (Med.), Prof., Bashlyaeva Children's City Clinical Hospital

俄罗斯联邦, Moscow

Inna Trunina

Bashlyaeva Children's City Clinical Hospital

Email: zakharova-rmapo@yandex.ru

D. Sci. (Med.), Prof., Bashlyaeva Children's City Clinical Hospital

俄罗斯联邦, Moscow

Viktoria Pupykina

Russian Medical Academy of Continuous Professional Education

Email: zakharova-rmapo@yandex.ru
ORCID iD: 0000-0003-2181-8138

Resident, Russian Medical Academy of Continuous Professional Education

俄罗斯联邦, Moscow

Indira Arsel'gova

Russian Medical Academy of Continuous Professional Education

Email: zakharova-rmapo@yandex.ru

Clinical Resident, Russian Medical Academy of Continuous Professional Education

俄罗斯联邦, Moscow

Yulia Koba

Russian Medical Academy of Continuous Professional Education

Email: yuliakoba777@gmail.com
ORCID iD: 0000-0001-7902-8281

Resident, Russian Medical Academy of Continuous Professional Education

俄罗斯联邦, Moscow

Tatiana Bocharova

Bashlyaeva Children's City Clinical Hospital

Email: zakharova-rmapo@yandex.ru

Gastroenterologist, Bashlyaeva Children's City Clinical Hospital

俄罗斯联邦, Moscow

Aia Abazova

Russian Medical Academy of Continuous Professional Education

Email: zakharova-rmapo@yandex.ru

Clinical Resident, Russian Medical Academy of Continuous Professional Education

俄罗斯联邦, Moscow

参考

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