Characterization of Fabry Disease in 352 Pediatric Patients in the Fabry Registry
Characterization of Fabry Disease in 352 Pediatric Patients in the Fabry Registry
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DOI：
10.1203/pdr.0b013e318183f132
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发表时间：
2008-11-01
影响因子：
3.6
通讯作者：
Wilcox, William R.
中科院分区：
文献类型：
--
作者：
Hopkin, Robert J.;Bissler, John;Wilcox, William R.
法布里病是一种由 α-半乳糖苷酶 A 缺乏引起的 X 连锁溶酶体疾病。在 352 名法布里登记患者中，描述了在儿童期和青春期发生的法布里病的体征和症状。入组时（中位年龄 12 岁），77% 的男性和 51% 的女性报告有症状。男性出现症状的中位年龄为 6 岁，女性为 9 岁。 59% 的男性（中位年龄 7 岁）和 41% 的女性（中位年龄 9 岁）报告最常见的症状是神经性疼痛。 18% 的儿童报告出现胃肠道症状（男性中位年龄 5 岁，女性中位年龄 9.5 岁）。男性的身高和体重值低于美国第 50 个百分位。女性体重值高于美国第 50 个百分位，少数患者有严重的肾脏和心脏表现、2 期或 3 期慢性肾病 (n = 3)、心律失常 (n = 9) 和左心室肥大 (n = 3)。因此，许多法布里儿科患者报告了早期症状，特别是疼痛。胃肠道症状和生活质量受损。有些孩子在儿科时期会经历严重的并发症。 (儿科研究 64: 550-555, 2008)
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)