Artículos de revistas
First Report Of A Brazilian Child Carrying The G188e Mutation Of Lipoprotein Lipase Gene [primeiro Relato De Uma Criança Brasileira Portadora Da Mutação G188e Do Gene Da Lipoproteína Lipase]
Registro en:
Revista Paulista De Pediatria. , v. 28, n. 4, p. 405 - 408, 2010.
1030582
2-s2.0-78751653516
Autor
Takata R.T.
Schreiber R.
Prado E.
Mori M.
De Faria E.C.
Institución
Resumen
Objective: To report the case of a child with serious hypertriglyceridemia due to lipase lipoprotein gene mutation. Case description: A three-year-old boy presented with lipemic serum at one month of age. His lipid profile revealed serious hypertriglyceridemia with plasma triglycerides levels of 25,000mg/dL. A mutation G188E in éxon 5 of the lipoprotein lipase gene was detected in homozygosis for him and in heterozygosis for his parents. Comments: The deficiency of the lipoprotein lipase is a recessive autossomal disease that causes severe hypertriglyceridemia. 28 4 405 408 Mc Donnel, M.G., Young, I.S., Nicholls, D.P., Archbold, G.P., Graham, C.A., Genetics of the lipoprotein lipase gene and hypertriglyceridaemia (2003) Br J Biomed Sci, 60, pp. 84-88 Sugandhan, S., Khandpur, S., Sharma, V.K., Familial chylomicronemia syndrome (2007) Pediatr Dermatol, 24, pp. 323-325 Mohandas, M.K., Jemila, J., Ajith Krishnan, A.S., George, T.T., Familial chylomicronemia syndrome (2005) Indian J Pediatr, 72, p. 181 Reina, M., Brunzell, J.D., Deeb, S.S., Molecular basis of familial chylomicronemia: Mutations in the lipoprotein lipase and apolipoprotein C-II genes (1992) Journal of Lipid Research, 33 (12), pp. 1823-1832 Gilbert, B., Rouis, M., Griglio, S., De, L.L., Laplaud, P.-M., Lipoprotein lipase (LPL) deficiency: A new patient homozygote for the preponderant mutation Gly188Glu in the human LPL gene and review of reported mutations: 75 % are clustered in exons 5 and 6 (2001) Annales de Genetique, 44 (1), pp. 25-32. , DOI 10.1016/S0003-3995(01)01037-1 Salazar, L.A., Hirata, M.H., Cavalli, S.A., Machado, M.O., Hirata, R.D., Optimized procedure for DNA isolation from fresh and cryopreserved clotted human blood useful in clinical molecular testing (1998) Clin Chem, 44, pp. 1748-1750 Monsalve, M.V., Henderson, H., Roederer, G., Julien, P., Deeb, S., Kastelein, J.J., A missense mutation at codon 188 of the human lipoprotein lipase gene is a frequent cause of lipoprotein lipase deficiency in persons of different ancestries (1990) J Clin Invest, 86, pp. 728-734 Rouis, M., Dugi, K.A., Previato, L., Patterson, A.P., Brunzel, J.D., Brewer, B.H., Therapeutic response to medium-chain triglycerides and -3 fatty acids in a patient with the familial chylomicronemia syndrome (1997) Arterioscler Thromb Vasc Biol, 17, pp. 1400-1406 Merkel, M., Eckel, R.H., Goldberg, I.J., Lipoprotein lipase: Genetics, lipid uptake, and regulation (2002) J Lipid Res, 43, pp. 1997-2006 Kawashiri, M., Higashikata, T., Mizuno, M., Takata, M., Katsuda, S., Mina, K., Long-term course of lipoprotein lipase (LPL) deficiency due to homozygous LPL(Arita) in a patient with recurrent pancreatitis, retained glucose tolerance, and atherosclerosis (2005) J Clin Endocrinol Metab, 90, pp. 6541-6544 Nordestgaard, B.G., Abildgaard, S., Wittrup, H.H., Steffensen, R., Jensen, G., Tybjaerg-Hansen, A., Heterozygous lipoprotein lipase deficiency: Frequency in the general population, effect on plasma lipid levels, and risk of ischemic heart disease (1997) Circulation, 96, pp. 1737-1744 Peterson, J., Ayyobi, A.F., Ma, Y., Henderson, H., Reina, M., Deeb, S.S., Structural and functional consequences of missense mutations in exon 5 of the lipoprotein lipase gene (2002) J Lipid Res, 43, pp. 398-406 Hodge, D., Stringer, M.D., Puntis, J.W.L., Lipoprotein lipase deficiency: Benefits and limitations of a novel therapeutic surgical approach (2001) Journal of Pediatric Gastroenterology and Nutrition, 32 (5), pp. 593-595. , DOI 10.1097/00005176-200105000-00019 Wittrup, H.H., Tybjaerg-Hansen, A., Noordestgaard, B.G., Lipoprotein lipase mutations, plasma lipids and lipoproteins and risk of ischemic heart disease. A meta-analysis (1999) Circulation, 99, pp. 2901-2907 Breslow, J.L., Genetics of lipoprotein abnormalities associated with coronary artery disease susceptibility (2000) Annu Rev Genet, 34, pp. 233-254 Ravi, G.R., Pradeepa, R., Mohan, V., Hypertriglyceridemia and coronary artery disease--an update (2004) Indian Heart J, 56, pp. 21-26 Nordestgaard, B.G., Abildgaard, S., Wittrup, H.H., Steffensen, R., Jensen, G., Tybjærg-Hansen, A., Heterozygous lipoprotein lipase deficiency: Frequency in the general population, effect on plasma lipid levels, and risk of ischemic heart disease (1997) Circulation, 96, pp. 1737-1744 Evans, V., Kastelein, J.J., Lipoprotein lipase deficiency - Rare or common? (2002) Cardiovasc Drugs Ther, 16, pp. 283-287 Freitas, E.V., Triglícerídeos e doença arterial coronariana (2004) Rev SOCERJ, 17, pp. 45-49 Fischer, R., Humphries, S.E., Talmud, P.J., Common variation in the lipoprotein lipase gene: Effects on plasma lipids and risk of atherosclerosis (1997) Atherosclerosis, 135, pp. 145-159 Kane, J.P., Malloy, M.J., Distúrbios do metabolismo das lipoproteínas (2000) Endocrinologia Básica e Clínica, pp. 501-521. , Greenspan FS, Strewler GJ, editores. Rio de Janeiro: Guanabara Koogan