Identification of two novel mutations and long-term follow-up in abetalipoproteinemia: a report of four cases

被引：24

作者：

Chardon, Laurence ^{[1
]}

Sassolas, Agnes ^{[2
]}

Dingeon, Bernard ^{[3
]}

Michel-Calemard, Laurence ^{[4
]}

Bovier-Lapierre, Michel ^{[5
]}

Moulin, Philippe ^{[6
,7
,8
,9
]}

Lachaux, Alain ^{[1
,10
,11
]}

机构：

[1] Hosp Civils Lyon, Hop Edouard Herriot, Unite Hepatol Gastroenterol & Nutr Pediat, F-69437 Lyon, France

[2] Hosp Civils Lyon, UF Dyslipidemies Cardiobiol, CBPE, Groupement Hosp Est, F-69677 Lyon, France

[3] Ctr Hosp Chambery, Biochim Lab, F-73011 Chambery, France

[4] Hosp Civils Lyon, UF Endocrinol Mol & Malad Rares, Ctr Biol & Pathol Est, Groupement Hosp Est, F-69677 Lyon, France

[5] Ctr Hosp Chambery, Serv Pediat, F-73011 Chambery, France

[6] Univ Lyon, F-69003 Lyon, France

[7] INSERM, U870, IFR62, F-69008 Lyon, France

[8] INRA, UMR1235, F-69008 Lyon, France

[9] INSA, RMND, F-69621 Villeurbanne, France

[10] Univ Lyon 1, Fac Med Lyon Grange Blanche, F-69008 Lyon, France

[11] INSERM, U851, IFR128, F-69365 Lyon, France

来源：

EUROPEAN JOURNAL OF PEDIATRICS | 2009年 / 168卷 / 08期

关键词：

Abetalipoproteinemia; Vitamin E; Microsomal triglyceride transfer protein; TRIGLYCERIDE-TRANSFER-PROTEIN; VITAMIN-E; FAMILIAL HYPOBETALIPOPROTEINEMIA; LIPID DISORDERS; GENE; METABOLISM; ABSORPTION; TOCOPHEROL; ABSENCE;

D O I：

10.1007/s00431-008-0888-6

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Abetalipoproteinemia (ABL; OMIM 200100) is an inherited disorder resulting from mutations in the microsomal triglyceride transfer protein gene and characterized by a major lipid malabsorption leading to extremely low plasma cholesterol and triglyceride levels and fat-soluble vitamins deficiencies. We report two novel mutations (c.59del17 and c. 582C>A) and the long-term follow-up of four ABL subjects treated with vitamin E. The good outcome of the early-treated patients contrasts with severe ataxia and retinopathy observed in the patient with delayed treatment. In conclusion, early diagnosis and early management are essential to prevent the manifestations following the fat-soluble vitamin deficiencies.

引用

页码：983 / 989

页数：7

共 22 条

[1] Ileal adenocarcinoma in a mild phenotype of abetalipoproteinemia [J].

Al-Shali, K ;

Wang, J ;

Rosen, F ;

Hegele, RA .

CLINICAL GENETICS, 2003, 63 (02) :135-138

[2] Mechanisms involved in vitamin E transport by primary enterocytes and in vivo absorption [J].

Anwar, Kamran ;

Iqbal, Jahangir ;

Hussain, M. Mahmood .

JOURNAL OF LIPID RESEARCH, 2007, 48 (09) :2028-2038

[3] Long-term assessment of combined vitamin A and E treatment for the prevention of retinal degeneration in abetalipoproteinaemia and hypobetalipoproteinaemia patients [J].

Chowers, I ;

Banin, E ;

Merin, S ;

Cooper, M ;

Granot, E .

EYE, 2001, 15 (4) :525-530

[4] Assessment of tocopherol metabolism and oxidative stress in familial hypobetalipoproteinemia [J].

Clarke, Michael W. ;

Hooper, Amanda J. ;

Headlam, Henrietta A. ;

Wu, Jason H. Y. ;

Croft, Kevin D. ;

Burnett, John R. .

CLINICAL CHEMISTRY, 2006, 52 (07) :1339-1345

[5] Mutations in MTP gene in abeta- and hypobeta-lipoproteinemia [J].

Di Leo, E ;

Lancellotti, S ;

Penacchioni, JY ;

Cefalù, AB ;

Averna, M ;

Pisciotta, L ;

Bertolini, S ;

Calandra, S ;

Gabelli, C ;

Tarugi, P .

ATHEROSCLEROSIS, 2005, 180 (02) :311-318

[6] HYPOCHOLESTEROLEMIA IN CHILDHOOD [J].

GRANOT, E ;

DECKELBAUM, RJ .

JOURNAL OF PEDIATRICS, 1989, 115 (02) :171-185

[7]

Gregg Richard E., 1994, Current Opinion in Lipidology, V5, P81, DOI 10.1097/00041433-199404000-00003

[8] Monogenic hypocholesterolaemic lipid disorders and apolipoprotein B metabolism [J].

Hooper, AJ ;

van Bockxmeer, FM ;

Burnett, JR .

CRITICAL REVIEWS IN CLINICAL LABORATORY SCIENCES, 2005, 42 (5-6) :515-545

[9]

Kane J.P., 2001, METABOLIC MOL BASES, V2, P2717

[10]

KAYDEN HJ, 1983, J LIPID RES, V24, P652

← 1 2 3 →