China News Service, August 20 (Reporter Chen Jing) A boy with Fabry disease from Jiangsu was successfully injected with an enzyme replacement drug in Shanghai on the 20th.
The National Children's Medical Center and the Children's Hospital of Fudan University told reporters that with the introduction of specific enzyme replacement therapy drugs into China, Fabry disease has become one of the few rare diseases that can be prevented and treated. This means that patients have an effective opportunity to intervene before the organ is irreversibly damaged.
Fabry disease is a rare genetic disease caused by mutations in related genes. Patients, especially male patients, begin to accumulate related metabolic substrates in various organs and tissues during fetal development. In childhood and adolescence, patients will experience neuropathic pain and proteinuria. As the disease progresses, patients may die prematurely due to serious complications such as renal failure, myocardial hypertrophy, and stroke.
In the future, the National Promotion Association for the Multidisciplinary Diagnosis and Treatment of Fabry Disease in Children will be held regularly and multi-center clinical research will be carried out nationwide. Photo courtesy of the Pediatric Hospital
Fabre's disease has diverse clinical manifestations, lack of specificity in early symptoms, insufficient clinical understanding, scattered clinics, and delayed diagnosis can be as long as 15-20 years. Professor Xu Hong, a member of the Chinese Fabry Expert Collaboration Group and the Pediatric Hospital of Fudan University, believes that based on the previously reported screening data of the disease and the currently limited screening results for high-risk patients, Fabry disease is known as a “rare disease” The incidence rate may be underestimated and not fully recognized and paid attention to by pediatricians.
In order to allow children who may be suffering from Fabry disease to be diagnosed and treated as soon as possible, in April this year, the National Children’s Medical Center and the Children’s Hospital of Fudan University integrated more than ten departments including nephrology, neurology, and neonatology, and took the lead in establishing the Children’s Fabry Disease MDT. The team (a multidisciplinary collaborative team) has established a screening platform, evaluation process and comprehensive management strategy for diagnosed children with high-risk children.
Xu Hong said that a comprehensive assessment of the onset pattern of children with Fabry disease can provide a theoretical basis for early standardized diagnosis; exploring the timing of specific enzyme replacement therapy for children will provide a scientific basis for formulating guidelines for standardized diagnosis and treatment of children in the future. She believes that spreading this model to the whole country can maximize the awareness of Chinese pediatricians about the disease.
According to reports, in the four months so far, the Fabry disease MDT team of the Pediatrics Hospital has screened nearly 20 children with symptoms such as acropain, myocardial hypertrophy, and cerebral infarction, including one newborn with hematochezia. The child has been genetically confirmed, and 3 other children with abnormal screening are waiting for the genetic test results.
The Fudan Pediatric MDT team worked with the team of Professor Nan Chen from Ruijin Hospital, the Fabry Disease Diagnosis and Treatment Center, to comprehensively evaluate multiple children of adult patients diagnosed in Ruijin Hospital and formulate an individualized treatment plan. On the 20th, children who received a special medicine for Fabry disease completed the injection at the hospital.
Professor Lu Jun, an expert from the Public Policy Research Group of the National Health Commission's "Healthy China 2020 Strategic Plan", director of the Department of Health Management of Fudan School of Public Health, and a health policy expert, said that if Shanghai can include relevant specific drugs in the rare disease medical insurance catalog as soon as possible, Will allow more children to see the dawn of treatment.
The reporter learned that at the National Promotion Conference for the Multidisciplinary Diagnosis and Treatment of Pediatric Fabry Disease in Children's Hospital, nearly 1,000 doctors from more than 70 hospitals in 28 provinces participated online. Professor Xu Hong introduced that in the future, the National Advancement Conference for the Multidisciplinary Diagnosis and Treatment of Fabry Disease in Children will be held regularly, and multi-center clinical research will be carried out across the country to optimize screening strategies for Fabry Disease in children and explore enzymes in children with different genders and different clinical phenotypes. The timing and efficacy of alternative treatments, to construct and improve early diagnosis and comprehensive management strategies for children's Fabry disease. (Finish)