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Транзиторна дитяча гіпертригліцеридемія та гепатостеатоз

ORPHA:300293· ICD-10 K76.0· Transient infantile hypertriglyceridemia and hepatosteatosis

Визначення(English summary)

Transient infantile hypertriglyceridemia and hepatosteatosis is a rare, genetic, hepatic disease characterized by massive hepatomegaly, moderate to severe, transient hypertriglyceridemia and hepatic steatosis (followed by fibrosis), manifesting in infancy with failure to thrive, vomiting, an enlarged abdomen and a fatty liver. Reduction or normalization of triglyceride serum levels occurs with advancing age.

Поширеність
<1 / 1 000 000
Успадкування
Autosomal recessive
Вік початку
Infancy, Neonatal