PDF(Pubmed)
Abstract：
A 15-year-old male has been experiencing fever, limb pain during exercise, and reduced sweating since childhood. During an investigation into his fever, a family history of Fabry disease was discovered, prompting a referral to our department. He was diagnosed with Fabry disease based on decreased alpha-galactosidase A (α-Gal A) activity. Concurrently, his mother was found to have experienced limb pain during fevers since childhood, and she was also diagnosed with Fabry disease based on decreased α-Gal A activity. In the genetic analysis of both individuals, the IVS1+17A>G GLA variant was identified. This variant is considered benign and not classified as a pathogenic variant. Enzyme replacement therapy has been effective in improving clinical symptoms. His sister, who has not been diagnosed with Fabry disease due to normal clinical symptoms and α-GAL A activity, also had the same variant. Among the various GLA variants, many are classified as benign rather than pathogenic. In the present cases, the possibility of other factors that cannot be identified by genetic analysis is suggested, making this case significant and worth reporting.
摘要：
一名15岁的男性一直在发烧，运动时肢体疼痛,从小就减少出汗。在对他发烧的调查中，发现了法布里病的家族史,促使向我们部门推荐.由于α-半乳糖苷酶A（α-GalA）活性降低，他被诊断出患有法布里病。同时,他的母亲从小就被发现发烧时四肢疼痛，根据α-GalA活性下降，她还被诊断出患有法布里病。在两个个体的遗传分析中，鉴定出IVS1+17A>GGLA变异体。该变体被认为是良性的并且不被分类为致病性变体。酶替代疗法可有效改善临床症状。他的妹妹,由于正常的临床症状和α-GALA活性而未被诊断患有法布里病，也有相同的变体。在各种GLA变体中，许多被归类为良性而不是致病性。在目前的情况下,提出了遗传分析无法识别的其他因素的可能性，使这个案子有意义，值得报道。
