Characterization of Fabry Disease in 352 Pediatric Patients in the Fabry Registry

被引：207

作者：

Hopkin, Robert J. ^{[1
,3
]}

Bissler, John ^{[2
,3
]}

Banikazemi, Maryam ^{[4
,5
]}

Clarke, Lorne ^{[6
]}

Eng, Christine M. ^{[7
]}

Germain, Dominique P. ^{[8
]}

Lemay, Roberta ^{[9
]}

Tylki-Szymanska, Anna ^{[10
]}

Wilcox, William R. ^{[11
,12
]}

机构：

[1] Cincinnati Childrens Hosp, Med Ctr, Div Human Genet, Cincinnati, OH 45229 USA

[2] Cincinnati Childrens Hosp, Med Ctr, Div Nephrol & Hypertens, Cincinnati, OH 45229 USA

[3] Univ Cincinnati, Coll Med, Dept Pediat, Cincinnati, OH 45229 USA

[4] NYU, Dept Neurol, New York, NY 10016 USA

[5] NYU, Dept Pediat, New York, NY 10016 USA

[6] Univ British Columbia, Dept Med Genet, Vancouver, BC V6H 3N1, Canada

[7] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

[8] Univ Versailles, Hop Raymond Poincare, AP HP, F-92380 St Quentin en Yvelines, Garches, France

[9] Genzyme Corp, Biomed Operat, Cambridge, MA 02142 USA

[10] Klin Chorob Metabol, Dept Pediat, PL-04736 Warsaw, Poland

[11] Cedars Sinai Med Ctr, Inst Med Genet, Los Angeles, CA 90048 USA

[12] Univ Calif Los Angeles, Sch Med, Dept Pediat, Los Angeles, CA 90095 USA

来源：

PEDIATRIC RESEARCH | 2008年 / 64卷 / 05期

关键词：

D O I：

10.1203/PDR.0b013e318183f132

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Fabry disease is an X-linked lysosomal disease caused by deficiency of alpha-galactosidase A. Signs and symptoms of Fabry disease occurring during, childhood and adolescence were characterized in 352 Fabry Registry patients. At enrollment (median age 12 year), 77% of males and 51% of females reported symptoms. The median age of symptom onset was 6 year in males and 9 year in females. The most frequent symptom, neuropathic pain, was reported by 59% of males (median age 7 year) and 41% of females (median age 9 year). Gastrointestinal symptoms were reported by 18% of children (median age 5 year in males and 9.5 year in females). Males exhibited height and weight values below the US 50th percentile. Females had weight values above the US 50th percentile, A few patients had serious renal and cardiac manifestations, stage 2 or 3 chronic kidney disease (n = 3), arrhythmia (n = 9), and left ventricular hypertrophy (n = 3). Thus, many pediatric Fabry patients report early symptoms, particularly pain. gastrointestinal symptoms, and impaired quality of life. Some children experience major complications during the pediatric years. (Pediatr Res 64: 550-555, 2008)

引用

页码：550 / 555

页数：6

共 22 条

[21] Long-term safety and efficacy of enzyme replacement therapy for Fabry disease [J].