Often limbs numbness, she did not expect to be a “rare disease”!Prenatal genetic screening is crucial, a benefit that expectant parents must grab

2022-06-10 0 By

Qianjiang Evening News · Hour news correspondent Yang Taoyu reporter Wu Chaoxiang more than 5 years, often limbs numbness, convulsions…Xu was determined to find the cause, but to her surprise, she had a very rare genetic disease that could be passed on to her offspring.”On average, there are about five to ten 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 undergo prenatal genetic screening if conditions permit, and intervene in the next generation if necessary to prevent birth defects.”Professor Tang Xiaohua, head of genetics and genome Medicine at Zhejiang Provincial People’s Hospital, said.On February 28, the 15th International Rare Disease Day, the Department of Genetics and Genome Medicine of Zhejiang Provincial People’s Hospital offered free screening benefits for patients: genetic screening for SMA (spinal muscular atrophy), deafness and thalassaemia;Gaucher disease (thrombocytopenia), Pompe disease (myasthenia) screening;And total exon sequencing quota.Some of these screening programs cost up to 5,000 yuan per unit.Ms. Xu has been suffering from numbness and convulsions in her limbs for more than 5 years. She often has recurrent attacks and has been diagnosed as hypokalemia in many hospitals.But she was puzzled that no doctor had ever told her the real cause of her repeated hypokalemia.What made her even more afraid was that now she had to carry medicine with her. Every time she felt numbness in her hands, rapid heartbeat and tightness in her chest, she had to take medicine to replenish potassium. Once she was admitted to the emergency observation room for critical treatment.Due to the long course of the disease, the symptoms of repeated attacks, Ms. Xu began to doubt whether there is a genetic disease, this time from other places, hoping to find the cause, precise treatment, prevention of the next generation of disease.Through the efforts of Tang and her team, based on high-throughput genetic testing technology, she accurately found the “culprit” of the disease, and was eventually diagnosed as “Gitelman syndrome”.Tang said 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, leading to clinicians unable to identify the cause and treatment in a short period of time, thus affecting the prognosis of the disease.Therefore, if some conventional clinical treatment effect is not obvious, the cause is unknown and the symptoms are repeated, such as: hematuria, hypokalemia, hypertension, recurrent abortion, skeletal abnormalities, etc., it is likely to be genetic diseases, and it is recommended to go to the genetic counseling clinic.Globally, there are 6 to 10 rare disease patients per 10,000 people, and the average person carries 5 to 10 recessive disease-causing genes.At present, the number of patients in China has reached 20 million, and there are tens of millions of rare disease gene carriers. Facing such a number of tens of millions, in fact, rare disease groups are not rare.Studies have shown that more than 80% of rare diseases are caused by structural changes or abnormal regulation of genetic material, and have heritability.Simply put, once both partners share the same gene, the next generation is likely to develop the disease, and the disease is predestined to occur as early as life begins.For this reason, it is necessary for couples of childbearing age to undergo prenatal genetic screening if conditions permit.On the occasion of the 15th International Rare Disease Day on February 28, 2022, The Department of Genetics and Genome Medicine of Zhejiang Provincial People’s Hospital will provide the following benefits:Benefit 2:10 screening slots for SMA/ deafness/thalassaemia gene carriers, each worth rmb878 (for pregnant women);Benefit 3: free enzyme screening: Fabry-Buri (kidney disease), Gaucher disease (thrombocytopenia), Pompeii disease (muscle weakness);Obtained by the genetic counseling physician as determined to meet the requirements.Time: 13:30-17:00 PM on February 28, 2022 (Monday) and 8:00-11:30 am on March 2, 2022 (Wednesday) Location: Room 555, 5th floor, Building 2, Outpatient Clinic (Monday) and Room 627, 6th floor, Building 2, Outpatient Clinic (Wednesday)2. Patients with infertility or abnormal sexual development;3. Patients with kidney disease or recurrent hematuria or recurrent kidney stones;4. Patients with muscle weakness or muscular atrophy or creatine and creatine enzyme increase;5. Patients with dilated cardiomyopathy or aortic aneurysm;6. Patients with multiple spontaneous pneumothorax;7. Patients with thrombocytopenia and hepatosplenomegaly;8. Type I diabetes;9. People with genetic diseases at home;10. Genetic tumor risk group;Declaration: The copyright of this article belongs to the original author, if there is a source error or infringement of your legitimate rights and interests, you can contact us through the mailbox, we will promptly deal with.Email address: jpbl@jp.jiupainews.com