Phenylketonuria (PKU “) is a rare genetic amino acid metabolic disease. After 3 months of birth, the child gradually develops symptoms such as intellectual development and abnormal behavior. Urine and sweat have mouse odors.Children must eat special foods that do not contain or contain a small amount of phenylatine for life, and drink special milk powder to supplement nutrition, otherwise the brain development will be damaged or even die.
Recently, at Xinhua Hospital, Xinhua Hospital affiliated to the School of Medicine of Shanghai Jiaotong University, the Shanghai Institute of Pediatrics, the Beijing Smile Pain Challenge the Charity Foundation, and the China Nutrition Society Medical Food and Nutritional Support Branch jointly organized, a number of experts and many experts and The public welfare organization explores the screening and treatment of PKU, as well as the challenges and opportunities facing the development of special medical use formulas in my country.
Gu Xuefan, the director of the Rare Diseases and Treatment Center of Shanghai Children, pointed out at the meeting that PKU should be diagnosed and treated early, and delayed treatment time will lead to the development of children and the decline in IQ, and the disease must be emphasized for lifelong treatment.
Tsai Wei, director of the Shanghai Pediatrics Institute of Pediatrics, talked about many challenges for the development of special medical foods in my country. For example, the special medical food registration time and high cost, and the approved specialty food varieties, dosage forms, single specifications, infant formula formulas, infant formula formulas There are more and more nutrition, but there are fewer diseases, and there are fewer people who are rare diseases; professionals and public knowledge of special medicine foods are lower; domestic special medicine foods lack a complete industrial chain.At the same time, he also believes that my country’s special medicine food has huge demand and opportunities.
Early diagnosis and early treatment, neonatal screening is indispensable
At the meeting, Qiu Wenjuan, chief physician of the Xinhua Hospital affiliated to the Xinhua Hospital affiliated to Shanghai Jiaotong University, introduced that the children of PKU children were normal when they were born. After 3 months, the symptoms gradually appeared.Abnormal, exciting, tremor, epilepsy (baby spasm or nodding attacks), increased minority muscle tension or hypertrophic tendon reflexes, adult patients may have a cognitive backward.When the hair and skin are born, the color is normal, and it will turn yellow after a few months, and the skin is light.There are a large amount of mouse smell caused by urine and sweat in children.
Gu Xuefan, the director of the Rare Diseases and Treatment Center of Shanghai Children, introduced that the cause of PKU is phenylatine hydroxylase and its coenzyme defect.The probability of illness is 25%.
Gu Xuefan said that the PKU should be diagnosed and treated early, and the treatment can be started while conducting a differential diagnosis.The delay of the starting treatment time will lead to the development of children and the decline in IQ, and for the treatment of phenyloneuria, it is necessary to emphasize lifelong treatment.Patients with delay diagnosis will help improve their nervous system symptoms no matter when they start treatment.
Gu Xuefan especially emphasizes the importance of newborn screening to PKU.He gave an example. In 1982, Shanghai screened the first PKU child through newborns.Through early diagnosis and early treatment, the patient works in a hotel after graduating from technical secondary school, and usually loves fencing.
Gu Xuefan said that after the results of the college entrance examination last year, several PKU patients were also admitted to college. “I think this is a completely cure disease.
In addition, Gu Xuefan revealed that there are more than 250 newborn screening centers in the country. In addition to PKU, there are also hypothyroidism, thalassemia, galactose, and DMD (Du’s muscle nutritionAdverse diseases) and so on.
Qiu Wenjuan said that the coverage rate of newborn screening in my country has reached 97.5%. PKU is the most successful and representative genetic metabolic disease from newborn screening to treatment.
Gu Xuefan said that with the development of medicine, in addition to infectious diseases, for clinicians, genetic diseases, rare diseases, and difficulty diseases are also very important diseases. More than 80%of rare diseases are genetic diseases, diagnosis and diagnosis of genetic diseases and the diagnosis of genetic diseases andTreatment is an important mission of contemporary clinicians.
Special medical foods are facing many challenges, and they also have greater opportunities
At the meeting, Cai Wei, director of the Shanghai Institute of Pediatrics, analyzed the challenges facing the development of the special medical use formula food market.He believes that one of the challenges is the long -term food registration time and high registration cost, and the approved special medical food varieties, dosage forms, and specifications are relatively single.There are relatively few people who are rare diseases.
In the second challenge, the special channels for special medical food hospitals are not available. Most medical institutions do not include registered special medical foods in the diagnosis and treatment directory, nor do they pay for codes and standards, which is mixed with ordinary food and solid drinks.Cai Wei believes that the special medical use of medical institutions should be established to ensure proper use under the professional guidance of “doctor/clinical nutritionist”; the establishment of a national special medical food coding and standardized charging standards.
In addition, special medical foods also face the challenges of low awareness of medical staff and the public about this, and the lack of professional education and science education.my country’s lack of professional registered clinical nutritionists and nutritional clinical professionals need to carry out special medical nutritional health education for various people in the society, especially medical staff and caregivers.
Cai Wei also introduced that domestic special medicine foods also face incomplete challenges in the industrial chain.From basic scientific research, raw materials development, formula development, processing technology to clinical research, application and follow -up services, they lack a complete industrial chain.
At the same time, my country also has huge needs and opportunities in the field of special medicine food.Cai Wei said that, first of all, the rapidly increasing elderly population, chronic diseases and hospitalizations in my country means huge nutritional needs.Secondly, PKU, methyl propyrine, maple diabetes, etc. in the 2019 version of the “Guidelines for Rare Diseases”, special medical foods are one of the main treatment methods, which requires more research and development.
