关键词:

法布雷病, α-半乳糖苷酶A, 酶替代治疗, 儿童

Abstract:

The patient, a girl who was born in October 2011, began experiencing pain in her hands and feet toes since December 2020, with the pain worsening with activity and fever. The course was interrupted by tinnitus, which could resolve spontaneously. She was hospitalized at Henan Children's Hospital in January 2024 for treatment. Her mother had an intermittent hand and foot pain history during her school-age years; her uncle passed away at the age of 32 due to dilated cardiomyopathy; her grandmother had a long-term history of abdominal pain and diarrhea; one of her cousins also had symptoms of pain with fever. Considering the specific symptoms and positive family history, the biomarkers of Fabry disease, α-galactosidase A, and related genes of the girl and her mother were tested to confirm Fabry disease. The girl received enzyme replacement therapy, and her mother underwent gene therapy preparation. At present, the girl's pain symptoms and tinnitus were relieved, and she was undergoing long-term follow-up.

Key words:

Fabry disease, Alpha-galactosidase A, Enzyme replacement therapy, Children