Qianjiang Evening News Hourly News Correspondent Yang Taoyu Reporter Wu Chaoxiang
For more than 5 years, her limbs were often numb and twitching…Ms. Xu was determined to find the cause, but what she did not expect was that she had a disease It is a very rare genetic disorder that can be passed on to one’s own offspring.
“On average, we carry about 5-10 recessive disease-causing genes in each person. Even healthy couples may give birth to ‘rare disease children’. Therefore, it is recommended that couples of childbearing age have children of childbearing age when conditions permit. Prenatal genetic screening can be carried out, and if necessary, the next generation can be intervened to prevent birth defects.” Professor Tang Xiaohua, head of the Department of Genetics and Genomic Medicine of Zhejiang Provincial People’s Hospital, said.
February 28th is the 15th International Rare Disease Day. The Department of Genetics and Genomic Medicine of Zhejiang Provincial People’s Hospital sent free screening benefits for patients: rare diseases SMA (spinal muscular atrophy), deafness , thalassemia genetic screening; Gaucher disease (platelet low), Pompe disease (myasthenia) screening; and whole exome sequencing quotas, etc. Some of these screening items require a unit price of up to more than 5,000 yuan.
Ms. Xu has been suffering from numbness and convulsions in her limbs for more than 5 years, which often recurs. hospital, were diagnosed with hypokalemia. But what puzzled her was that no doctor had told her the real reason for the repeated low potassium levels. What makes her even more afraid is that now she needs to carry medicines with her. Every time she feels numbness in her hands, rapid heartbeat, and chest tightness, she has to take medicine and supplement potassium quickly. rescue.
Due to the long course of the disease and the recurrent symptoms, Ms. Xu began to doubt whether she had a genetic disease. This time, she came here from other places, hoping to find the cause, accurately treat it, and prevent the disease in the next generation. Through the efforts of Director Tang and his team, based on high-throughput genetic testing technology, she was able to accurately find the “culprit” of the disease, and was finally diagnosed as “Gitelman syndrome”.
Director Tang said that Gitelman syndrome is an autosomal recessive genetic disease, and the main feature of the disease is hypokalemia. Clinically, many rare diseases often show some common clinical symptoms and signs, which makes clinicians unable to identify the cause and treatment in a relatively short period of time, thus affecting the prognosis of the disease. Therefore, if some conventional clinical treatment is not effective, the cause is unknown and the symptoms recur, such as: hematuria, hypokalemia, hypertension, recurrent miscarriage, skeletal abnormalities, etc., it is likely to be a genetic disease, and it is recommended to go to genetic counseling Outpatient visit.
Globally, there are 6-10 rare disease patients per 10,000 people, and on average, each person carries 5-10 recessive disease-causing genes. At present, the number of patients in my country has reached 20 million, and there are tens of millions of rare disease gene carriers. Facing such a number of tens of millions, the group of rare diseases is actually not rare.
Studies have shown that more than 80% of rare diseases are caused by structural changes or abnormal regulation of genetic material, and are hereditary. To put it simply, once both husband and wife carry the same pathogenic gene, the next generation is likely to suffer from the disease, and the occurrence of the disease is doomed as early as the moment life begins.
Because of this, it is very necessary for couples of childbearing age to conduct prenatal genetic screening when conditions permit.
On the occasion of the 15th International Rare Disease Day on February 28, 2022, the Department of Genetics and Genomic Medicine of Zhejiang Provincial People’s Hospital will send out the following benefits:
Welfare 1: 1-2 places for whole exome sequencing, a single value of 5078 yuan (applicable to suspected patients);
Welfare 2: 10 places for SMA/deafness/thalassemia gene carrier screening, a single value of 878 yuan (Applicable to women of gestational age);
Welfare 3: Free enzyme screening: Fabri (kidney disease), Gaucher disease (platelet low), Pompe disease (muscle weakness); judged by a genetic counseling doctor Those who meet the conditions will get it.
Event time: February 28, 2022 (Monday) 13:30-17:00 pm and March 2, 2022 (Wednesday) 8:00-11:30 am
Location: Clinic Room 555, Floor 5, Building 2 (Monday) and Clinic Room 627, Floor 6, Building 2, Outpatient Clinic (Wednesday)
Participants: 1. Pregnancy-age women eugenics counseling;
2. Patients with infertility or abnormal sexual development;
3. Patients with renal disease or patients with repeated hematuria or repeated kidney stones;
4. Muscle weakness or muscle atrophy Or patients with elevated creatine creatase;
5. Patients with dilated cardiomyopathy or aortic aneurysm;
6. Patients with multiple spontaneous pneumothorax;
7 , thrombocytopenia and hepatosplenomegaly;
8. Type I diabetes patients;
9. People with genetic disease in the family;
10. Hereditary Cancer risk population;