European journal of pediatrics · 2004
Severe hypertriglyceridaemia in a Greek infant: a clinical, biochemical and genetic study.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Kavazarakis Emmanuel, Stabouli Stella, Gourgiotis Dimitrios, Roumeliotou Katerina, Traeger-Synodinos Joanne, Bossios Apostolos, Fretzayas Andrew, Kanavakis Emmanuel
Аннотация
UNLABELLED: A 32-day-old girl with massive hypertriglyceridaemia and clinical signs of chylomicronaemia syndrome is described. Genetic study of the patient revealed compound heterozygosity for a common lipoprotein lipase gene mutation (G188E) and a novel missense mutation (M301R), consistent with reduced post-heparin plasma lipoprotein lipase immunoreactive mass observed.
CONCLUSION: to the best of our knowledge, this is the first description of a patient with a M301R mutation in the lipoprotein lipase gene. In addition, dietary therapy with medium-chain triglycerides was successful supporting the effectiveness of this therapeutic approach in familial chylomicronaemia syndrome.
CONCLUSION: to the best of our knowledge, this is the first description of a patient with a M301R mutation in the lipoprotein lipase gene. In addition, dietary therapy with medium-chain triglycerides was successful supporting the effectiveness of this therapeutic approach in familial chylomicronaemia syndrome.