China News Service, July 31st (Reporter Chen Jing) China has a large population, and rare diseases are actually not uncommon.
The early diagnosis of rare diseases has always been a difficult problem for the medical profession to overcome.
The second high-risk screening program for lysosomal storage diseases (LSDs) was officially launched on the 31st. While further focusing on lysosomal storage diseases and providing free screening and monitoring for high-risk groups, a new family screening program was added. , To help establish a rare disease screening, diagnosis, and treatment of the entire disease process management ecosystem.
It is reported that lysosomal storage disease (LSD) is a group of hereditary metabolic diseases that can cause disorders of cell, tissue and organ function.
This is a rare disease. It is currently known that lysosomal storage diseases include at least 50 different single-gene genetic diseases.
Professor Zhang Aihua, chairman of the Rare Diseases Branch of Jiangsu Medical Association and deputy dean of the Children’s Hospital of Nanjing Medical University, said in an interview that day, the high-risk screening project for lysosomal storage disease was started from the source to prevent and treat rare diseases. The first level.
This is very important for improving the early diagnosis rate and realizing the later standard diagnosis.
It is reported that the initiation, development, and continuous decline of the high-risk screening program for lysosomal storage diseases will effectively alleviate the current situation of patients' misdiagnosis, high rate of missed diagnosis, and heavy disease burden.
Professor Zhu Wenhua, deputy chief physician of the Department of Neurology, Huashan Hospital Affiliated to Fudan University, introduced: “Early screening is the most cost-effective and effective way to prevent rare diseases. Lysosomal storage disease is a recessive genetic disease. If you can tell the patient and the same Parents of the family, they may have healthy children, and then promote prenatal and postnatal care. This is the important meaning of our screening."
Professor Zhang Liansheng, director of the Key Laboratory of Hematology of Gansu Province, told reporters that the clinical manifestations of lysosomal storage disease are diverse and complex, often involving multiple disciplines for diagnosis. I hope that more hospitals and departments will participate in the future and use multidisciplinary methods. The collaborative model conducts early screening and diagnosis, helping thousands of patients and families return to happiness.
It is understood that China has a large number of patients with rare diseases, and it is easy to delay treatment due to missed diagnosis or misdiagnosis.
According to the "2019 Gaucher Disease Survival Status Survey Report", 61.9% of Gaucher disease patients have experienced misdiagnosis, and 27.9% of patients need 1-5 years to be diagnosed.
Wang Haofei, executive chairman of the Beijing Health Promotion Association, said that in recent years, the government has introduced a series of measures to promote and promote the development of rare disease diagnosis and treatment, but disease management of rare diseases is still facing a severe situation.
Screening can effectively prevent all kinds of genetic diseases, not only can detect children early, intervene in time, and ease diagnosis and treatment problems, but will also bring a positive role in promoting prenatal and postnatal care in China.
Wang Haofei pointed out that timely screening of rare diseases, early detection, early intervention, and early treatment have very important social significance.
Professor Xu Hong, chief physician of the Department of Nephrology at the Children’s Hospital of Fudan University, emphasized: “Most rare diseases are genetic diseases. Nowadays, molecular biology technology is developing very fast and can be detected early through genetic testing technology.” She believes that improving medical staff and The public's knowledge of rare diseases is the foundation, and three-level prevention is the key. The joint participation of multiple clinical disciplines in the diagnosis, treatment and management of rare diseases is the guarantee.
It is understood that in June last year, the first high-risk screening project for lysosomal storage disease was launched, establishing a "high-risk screening-diagnosis" rare disease diagnosis and treatment integrated model, covering 244 hospitals in 29 provinces and regions across the country.
So far, the project has tested more than 3,200 blood samples for free, and screened about 250 patients.
It is reported that the disease field involved in the second project that has just been launched has expanded to include Gaucher’s disease, Pompe’s disease, Fabry’s disease, and mucopolysaccharidosis type I joint screening for four diseases, realizing multi-disciplinary participation in multi-disease Disease screening and differential diagnosis.
The "LSDs detection" function in the related WeChat applet "Fu Haitang" has been officially launched, providing convenient "one-stop" screening services for patients.
(Finish)