Hopkin Robert J, Bissler John, Banikazemi Maryam, Clarke Lorne, Eng Christine M, Germain Dominique P, Lemay Roberta, Tylki-Szymanska Anna, Wilcox William R
Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229, USA.
Pediatr Res. 2008 Nov;64(5):550-5. doi: 10.1203/PDR.0b013e318183f132.
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.
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。对352名法布里病登记患者的儿童期和青春期出现的法布里病体征和症状进行了特征描述。在入组时（中位年龄12岁），77%的男性和51%的女性报告有症状。症状出现的中位年龄男性为6岁，女性为9岁。最常见的症状是神经性疼痛，59%的男性（中位年龄7岁）和41%的女性（中位年龄9岁）报告有此症状。18%的儿童报告有胃肠道症状（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50百分位数。女性的体重值高于美国第50百分位数。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）和左心室肥厚（n = 3）。因此，许多儿科法布里病患者报告有早期症状，尤其是疼痛、胃肠道症状和生活质量受损。一些儿童在儿童期会经历重大并发症。
