Lipoprotein Lipase (LPL) Gene Mutation: A First Report in Children
نویسندگان
1 Neonatal Intensive Care Department, Mohammed VI University Hospital and Research AND Team for Childhood, Health and Development, Marrakech School of Medicine, Cadi Ayyad University, Marrakech, Morocco.
2 Biochemistry laboratory, Arrazi hospital, Mohammed VI University Hospital, Marrakesh, Morocco.
3 Biochemistry Department, School of Medicine, CADI AYYAD University, Morocco.
4 Neonatal Intensive Care Department, Mohammed VI University Hospital and Research AND Team for Childhood, Health and Development, Marrakech School of Medicine, Cadi Ayyad University, Marrakech, Morocco.
5 Neonatal Intensive Care Department, Mohammed VI University Hospital and Research AND Team for Childhood, Health and Development, Marrakech School of Medicine, Cadi Ayyad University, Marrakech, Morocco.
6 Neonatal Intensive Care Department, Mohammed VI University Hospital and Research AND Team for Childhood, Health and Development, Marrakech School of Medicine, Cadi Ayyad University, Marrakech, Morocco.
7 Biochemistry laboratory, Arrazi hospital, Mohammed VI University Hospital, Marrakesh, Morocco AND Biochemistry Department, School of medicine ,CADI AYYAD University, Morocco.
8 Neonatal Intensive Care Department, Mohammed VI University Hospital and Research AND Team for Childhood, Health and Development, Marrakech School of Medicine, Cadi Ayyad University, Marrakech, Morocco.
doi
10.22038/ijp.2017.25461.2163چکیده
Genetic hyperchylomicronemia is a rare autosomal recessive disorder of lipoprotein metabolism estimated to affect approximately one per million individuals. We report a case with a rare mutation identified. It’s a genetic chylomicronemia in a Moroccan newborn baby, with massive hypertriglyceridemia and clinical signs of acute pancreatitis. She was a newborn female, first-degree of consanguineous parents. She was hospitalized for hypertriglyceridemia, complicated by acute pancreatitis; serum was noted to be milky. The genetic study found a mutation of the Lipoprotein Lipase (LPL) gene: homozygous pathogenic variant c.1019-3C > A. She enjoyed good health, developed well and the triglyceride was maintained at a concentration of
