Hipobetalipoproteinemia familiar secundaria a mutación en el gen de la apolipoproteína B
2007; Elsevier BV; Volume: 66; Issue: 5 Linguagem: Inglês
10.1157/13102518
ISSN1695-9531
AutoresM. Blanco-Rodríguez, M.aT. Muñoz-Calvo, Gabriel Ángel Martos‐Moreno, E. Abad-Pérez, J. Argente-Oliver,
Tópico(s)Diabetes Treatment and Management
ResumoFamilial hypobetalipoproteinemia (FHB) is a rare genetically heterogeneous disorder provoking abnormally low serum levels of apoprotein (apo) B, total cholesterol, and low-density lipoprotein (LDL-C). Patients carrying heterozygous mutations in the APOB (2p24) gene are usually asymptomatic, but homozygous mutations cause clinical disturbances as a result of intestinal fat malabsorption and fat-soluble vitamin deficiency. We present an asymptomatic boy, aged 8 years and 7 months, with low serum levels of apo-B, total cholesterol, triglyceride, LDL-C and very low-density lipoprotein (VLDL-C), as well as vitamin E deficiency. Three asymptomatic relatives also exhibited low apo-B, total cholesterol and LDL-C levels. The APOB (2p24) gene was fully sequenced, demonstrating a heterozygous mutation in exon 26 (G --> T) in all four members of this family. Familial genetic studies in FHB could be useful in the early detection and treatment of homozygous carriers.
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