Kes Petar, Basić-Jukić Nikolina, Brunetta Bruna, Jurić Ivana
Zavod za dijalizu, Klinicki bolnicki centar Zagreb, Zagreb, Hrvatska.
Acta Med Croatica. 2006;60(1):55-8.
Anderson-Fabry disease is a rare inherited X-linked lysosomal storage disease caused by deficiency of the enzyme alpha-galactosidase A. The deficiency of alpha-galactosidase activity leads to progressive, abnormal accumulation of neutral glycosphingolipids in the lysosome. With increasing age globotriaosylceramide (Gb3) progressively accumulates in different cells, tissues and organs throughout the body. The overall prevalence of Anderson-Fabry disease is 1:117.00 or 1: 40.000 in (male) population. Typically, the clinical onset of Anderson-Fabry disease occurs during childhood or adolescence, with early symptoms of neuropathic pain (recurrent episodes of severe pain in the extremities), angiokeratomas (characteristic cutaneous lesions), oedematous upper eyelids, peripheral vasospasm and ophthalmological abnormalities. The disease progresses through adulthood and by the age of 30-40 years several major organ systems may be affected; cardiac disease, renal insufficiency, cerebrovascular attacks and neurologic findings are common. Death usually occur secondary to renal, cardiac or cerebrovascular complications during the fourth or fifth decade of life. Enzyme replacement therapy is a major advance in the treatment of rare diseases. In 2001 two formulations have been approved by the European Medical Evaluation Agency, agalsidase alpha and agalsidase beta. Agalsidase alpha is produced on the human fibroblast cell line, and agalsidase beta from the Chinese hamster ovary cell line.
安德森-法布里病是一种罕见的X连锁隐性遗传性溶酶体贮积病，由α-半乳糖苷酶A缺乏引起。α-半乳糖苷酶活性的缺乏导致中性糖鞘脂在溶酶体中进行性异常蓄积。随着年龄增长，球三糖神经酰胺（Gb3）在全身不同细胞、组织和器官中逐渐蓄积。安德森-法布里病在（男性）人群中的总体患病率为1:11700或1:40000。通常，安德森-法布里病的临床发病发生在儿童期或青春期，早期症状包括神经性疼痛（四肢反复出现严重疼痛）、血管角质瘤（特征性皮肤损害）、上眼睑水肿、外周血管痉挛和眼科异常。该疾病在成年期持续进展，到30 - 40岁时，几个主要器官系统可能会受到影响；心脏病、肾功能不全、脑血管意外和神经系统表现很常见。死亡通常发生在生命的第四个或第五个十年，继发于肾脏、心脏或脑血管并发症。酶替代疗法是罕见病治疗的一项重大进展。2001年，两种制剂已获欧洲药品评估局批准，即α-半乳糖苷酶和β-半乳糖苷酶。α-半乳糖苷酶由人成纤维细胞系生产，β-半乳糖苷酶由中国仓鼠卵巢细胞系生产。
