Infantile Cases of Sitosterolaemia with Novel Mutations in the ABCG5 Gene: Extreme Hypercholesterolaemia is Exacerbated by Breastfeeding View Full Text


Ontology type: schema:Chapter      Open Access: True


Chapter Info

DATE

2015-02-10

AUTHORS

Hayato Tada , Masa-aki Kawashiri , Mutsuko Takata , Kunihiro Matsunami , Atsushi Imamura , Misayo Matsuyama , Hirotake Sawada , Hiroyuki Nunoi , Tetsuo Konno , Kenshi Hayashi , Atsushi Nohara , Akihiro Inazu , Junji Kobayashi , Hiroshi Mabuchi , Masakazu Yamagishi

ABSTRACT

Few data exists regarding the clinical impact of breastfeeding in infantile sitosterolaemic cases. We report four Japanese infantile cases of sitosterolaemia, an extremely rare inherited disease characterised by increased serum levels of plant sitosterol, presenting with severe hypercholesterolaemia and systemic xanthomas exacerbated by breastfeeding. In these four cases, genetic analyses were performed for low-density lipoprotein (LDL) receptor, proprotein convertase subtilisin/kexin type 9 (PCSK9), LDL receptor adaptor protein 1 and ATP-binding cassette (ABC) subfamily G member 5 and 8 (ABCG5 and ABCG8) genes. We assessed their clinical manifestations, including responsiveness to a variety of treatments, especially to weaning from breastfeeding and use of ezetimibe. Two pairs of mutations in the ABCG5 gene in each case, including two novel mutations (c.130C>T or p.Ser44Ala and c.1813_1817delCTTTT or p.Pro558GlufsX14) and two known mutations (c.1306G>A or p.Arg389His and c.1336C>T or p.Arg446X), were identified. Significant reductions in cholesterol levels were obtained by means of weaning from breastfeeding alone. Substantial reductions in sitosterol levels, without any apparent side effects, were observed with ezetimibe. In conclusion, we have identified infantile Japanese sitosterolaemic subjects with extreme hypercholesterolaemia exacerbated by breastfeeding. Their unique response to weaning from breastfeeding, as well as to use of ezetimibe, could provide insights into the metabolic basis of sterols in humans. More... »

PAGES

115-122

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/8904_2014_404

DOI

http://dx.doi.org/10.1007/8904_2014_404

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1040856556

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/25665839


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