The doctor asked the root cause to find the rare disease and save the price of the price and reduce the price reduction.

There is a disease that is often misdiagnosed due to its variety of symptoms and non -specific differences. The incidence of this "strange disease" is only about 100,000, and only a few hundred people are currently diagnosed in China. However, many patients have been sick for many years, repeatedly onsets, and they have not been diagnosed with medical treatment, and even misdiagnosed ... This disease is Fabre disease.

Patient to inquire about the family history and clearly diagnose the "Fabre disease"

A few days ago, a patient was treated at the Centers of the People's Hospital of Shaanxi Province. The 33 -year -old Du was admitted to the hospital because of the conventional physical examination that the urine protein index was exceeded. In addition, there was no other abnormal body. Recalling the scene of Xiao Du at the beginning, Dong Qianlan, deputy chief physician of the kidney disease and threatening center, did not expect that this young man suffered from a rare genetic kidney disease -Fabre disease. "Medium -measured urine protein, and found obvious foot cell foam changes in kidney pathology in pathological tests, these indications give us a direction, which may have the possibility of suffering from the disease. In particular, the family medical history he mentioned later The systemic reaction with the body also provides some support for our diagnosis. "

At the first consultation, Xiao Du was unwilling to mention the family history of the family. "I know that my kidneys have a problem, and I feel desperate." During the diagnosis, the doctor kept guiding Xiao Du and patiently asked the details. Xiao Ducai revealed that his mother died of unknown heart disease, and the two uncles died of uremia at an age of the same age. The descendants of many maternal relatives in the family had hematuria symptoms. After supplementing family medical history, the hospital quickly arranged enzyme activity detection, substrate measurement and genetic testing for Xiaolu. Comprehensive all indicators and test results finally clarified the diagnosis of "Fabre disease".

Fabare's disease is a rare X -locking hereditary lysome storage, and the incidence rate is about 1/100,000. The disease is due to the GLA gene mutations located on the X chromosomes, which causes the lack of α-galactogenase and cannot remove its substrate. The clinical symptoms of Fabare's disease have a variety of clinical symptoms, causing patients to be scattered in multiple clinical departments. As the course of the disease progresses, the symptoms will gradually increase and appear or organ lesions such as kidney, heart, and brain. It will be severely life -threatening if it is not effective.

Patients with a significant decline in the price of life -saving medicines are more confident to defeat the disease

On June 30, the Ministry of Pharmacy of the Shaanxi Provincial People's Hospital used the green channel to urgently purchase a thick solution for Aganase α injection for Xiao Du. This is also the first time that the medicine entered the hospital's clinical clinical. On July 4, the first Aganase α prescription was opened. In the cosmetic room of kidney disease, the precious medicinal solution slowly flowed into Xiao Du's body. "Like the usual injection, there is nothing special response, everything is good." Xiao Du, who successfully completed the hospital's first enzyme replacement therapy.

Studies have shown that the average diagnosis time for patients with Fabre disease is 14.8 years. Except for the particularity of the disease, the patient's weekly turn to other clinical sectors cannot be quickly diagnosed, and the high medical expenses are also the main reason for the discouragement of patients.

However, in 2018, my country included Fabre disease in the first batch of rare diseases. Starting from January 1, 2022, the new version of the national medical insurance directory was officially implemented. Seven rare diseases entered the national medical insurance negotiation catalog, which included a strong solution for Aganase α injection for the treatment method Brey disease. According to Dong Qian, before entering the state talks, taking a patient with a weighing 70kg as an example, the annual cost was about 780,000, and one medicine cost 13,000 yuan, and now one has dropped to 3100 yuan. Hearing this good news, Xiao Du was very excited and said he was more confident to defeat the "sad" disease.

On July 19, Xiao Du came to the hospital for a second treatment, and Dong Qianlan brought him good news. "For the current point of view, the urine protein index has been significantly reduced, and the level of the substrate GL3 has also decreased. Instead Sentences, the sediment in the body is degraded. "

Considering the genetic characteristics of Fabare's disease, in addition to precise treatment of Xiao Du, the Shaanxi Provincial People's Hospital Nephrine and Blood Diabo Center also measured the free genes of 9 matriarchy relatives of Xiao Du. Among the nine specimens of inspections, 6 people are currently testing normally. Dong Qianlan said that the genetic disease of the X chromosome chain is highly likely to be reflected in other families of Xiao Du. It is hoped that early screening will be intervened in time to improve the quality of life of such high -risk people. In addition, it will also provide relevant guidance for his family members and eugenics and eugenics. "Early diagnosis and early treatment to benefit more patients with rare diseases, which is also the responsibility of our medical workers!"

Xi'an Newspaper All Media Journalist Ma Xiang

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