Prevention of Recurrent Pancreatitis in Familial Lipoprotein Lipase Deficiency with High-Dose Antioxidant Therapy
نویسندگان
چکیده
منابع مشابه
Familial lipoprotein lipase deficiency – neonatal presentation
A baby girl, born by normal spontaneous vaginal delivery with birth weight 3.845kg, was admitted for neonatal jaundice on day 2 of life. Her mother had maternal gestational diabetes on diet control. Her father was newly diagnosed with hyperlipidaemia on health screen and was put on diet control. There was no consanguinity. Her serum bilirubin level on admission was 186mmol/L with normal liver f...
متن کاملHeterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency.
The DNA sequences were determined for the lipoprotein lipase (LPL) gene from five unrelated Japanese patients with familial LPL deficiency. The results demonstrated that all five patients are homozygotes for distinct point mutations dispersed throughout the LPL gene. Patient 1 has a G-to-A transition at the first nucleotide of intron 2, which abolishes normal splicing. Patient 2 has a nonsense ...
متن کاملA missense (Asp250----Asn) mutation in the lipoprotein lipase gene in two unrelated families with familial lipoprotein lipase deficiency.
We have identified the molecular basis for familial lipoprotein lipase (LPL) deficiency in two unrelated families with the syndrome of familial hyperchylomicronemia. All 10 exons of the LPL gene were amplified from the two probands' genomic DNA by polymerase chain reaction. In family 1 of French descent, direct sequencing of the amplification products revealed that the patient was heterozygous ...
متن کاملAssociation of CTRC and SPINK1 gene variants with recurrent hospitalizations for pancreatitis or acute abdominal pain in lipoprotein lipase deficiency
BACKGROUND There are important inter-individual variations in the incidence and severity of acute pancreatitis in patients with severe hypertriglyceridemia. Several genes involved in triglyceride-rich lipoprotein metabolism or serine proteases pathways are known to influence the risk of pancreatitis. AIM To evaluate the association between genes regulating serine proteases, chymotrypsin C (CT...
متن کاملAlipogene tiparvovec: a review of its use in adults with familial lipoprotein lipase deficiency.
Alipogene tiparvovec (Glybera®; AMT-011, AAV1-LPL(S447X)) is an adeno-associated virus serotype 1-based gene therapy for adult patients with familial lipoprotein lipase (LPL) deficiency (LPLD) and suffering from severe or multiple pancreatitis attacks despite dietary fat restrictions. It is administered as a one-time series of intramuscular injections in the legs. LPLD, a rare autosomal recessi...
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ژورنال
عنوان ژورنال: The Journal of Clinical Endocrinology & Metabolism
سال: 1999
ISSN: 0021-972X,1945-7197
DOI: 10.1210/jcem.84.4.5617