Source: China News Network
China News Service, Hefei, February 27 (Reporter Zhang Qiang) “Mermaid baby” (deformed legs), “porcelain doll” (Osteogenesis imperfecta), ” “Children of the Moon” (albinism)… Behind these poetic names is the unspeakable pain of patients with rare diseases.
February 28, 2022 is the 15th International Rare Disease Day. According to the definition of the World Health Organization, rare diseases are diseases or lesions with the number of patients between 0.65‰ and 1‰ of the total population. According to the minimum incidence rate, there are more than 10 million rare disease patients in China.
In 2021, a 2-year-old boy Xuanxuan (pseudonym) was transferred from another hospital to the Department of Pediatrics of the First Affiliated Hospital of China University of Science and Technology (Anhui Provincial Hospital) due to acute renal failure. The infection was quickly brought under control, and renal function recovered significantly.
However, during the diagnosis and treatment, the medical staff found that Xuanxuan had obvious behavioral developmental abnormalities: he was almost 2 years old and still could not sit, could not call his mother, and had difficulty feeding, and was always crying and disorderly. Grasp.
“Xuanxuan is my third son. One of the first two children died at 13 months, and the other died at 10 months. Our family seems to have been hit by a ‘magic’. Damn, children can’t always grow up healthy.” Xuanxuan’s mother told the doctor that several children had backward behavioral development, and the first two children had convulsions.
“According to Xuanxuan’s mother’s description, we feel that Xuanxuan is likely to have a genetic disease.” said Yang Chunfang, deputy chief physician of the Department of Pediatrics at the First Affiliated Hospital of China University of Science and Technology.
Through genetic testing, Xuanxuan was diagnosed with a rare disease called “Lesch-Nyhan Syndrome” (LNS for short). This disease also has a terrible alias: self-destruction syndrome, the incidence rate is only 1 in 380,000. Following Xuanxuan’s postnatal examinations, Yang Chunfang and the attending pediatrician Zhu Juan found that Xuanxuan had urinary calculi and hyperuricemia, all of which were consistent with the clinical manifestations of LNS. According to the laws of heredity, Xuan Xuan’s two older brothers are also likely to be LNS.
“LNS is an X-linked recessive hereditary disease, which is characterized by the fact that half of the boys born to the mother carry the disease-causing gene, and half of the girls carry the disease-causing gene. According to Zhu Juan, due to the lack of specific enzyme activity caused by gene mutation, the patient’s development will be severely delayed, high uric acid will appear, and there will also be dystonia and intellectual disability. What’s more cruel is that patients will develop uncontrolled self-harm behaviors, such as biting their lips, biting their fingers, etc., even if they cry in pain, they cannot stop. These patients generally have poor quality of life and short lives.
After the diagnosis was confirmed, Xuanxuan was given a low-purine diet, allopurinol to lower uric acid, alkalinize urine, and drink more water after discussion in the department, and it was recommended to cooperate with rehabilitation training. After hard work, Xuanxuan’s uric acid was controlled within the normal range for a long time. “Xuanxuan eats well, can laugh, and can be led away.” When she was revisited not long ago, her mother told the doctor with relief.
Zhu Juan said that although there is currently no cure for LNS, if parents find that their children have developmental delays, cognitive and behavioral disorders, they should go to the pediatric department of a professional medical institution as soon as possible to detect and diagnose the disease as soon as possible. The control of hyperuricemia will greatly improve the quality of life of children and families, and the identification of pathogenic genes will also provide genetic counseling for children’s families to reproduce.
Rare diseases seem to be far away from us, but they are really around us. Wu Limin, deputy director of the sub-specialty department of the Prenatal Diagnosis Center of the Obstetrics and Gynecology Department of the First Affiliated Hospital of China University of Science and Technology, introduced that 70% to 80% of rare diseases are genetic diseases, and more than 84% of people carry at least one pathogenic variant of a recessive genetic disease. Each person carries 3-5 recessive genetic disease pathogenic variants. If a couple carries a disease-causing mutation in the same gene at the same time, then without intervention, every birth is like rolling the dice, with a certain probability that the offspring will have the disease.
Wu Limin reminded that although many rare diseases cannot be completely cured at present, this does not mean that “there is nothing to do”, scientific diagnosis and treatment methods can effectively control and alleviate the symptoms and development of the disease. The best way to prevent rare diseases is early detection and early intervention. The tertiary prevention strategy of pre-marital and pre-pregnancy screening, prenatal screening and prenatal diagnosis, and newborn screening can effectively prevent the occurrence of rare diseases. (End)