关键词: 成年人, 基因, 突变, 疾病遗传易感性, 分枝杆菌感染, 总结性报告(主题)

Abstract:

Objective To explore the characteristics of clinical and genetic deficiency, diagnosis, treatment and prognosis of adult-onset Mendelian susceptibility to mycobacterial disease (MSMD). Methods We retrospectively analyzed the clinical data, diagnosis, treatment and follow-up result of an adult-onset MSMD patient admitted to Shanghai Public Clinical Center on 20, July 2020, and then performed the literature review. “Mendelian susceptibility to mycobacterial disease” was used as the search term in PubMed and Google Scholar. The corresponding translated Chinese words of “Mendelian susceptibility to mycobacterial disease” and “Mendelian inheritance” and “mycobacterial disease” were used as search terms in China National Knowledge Infrastructure, Wanfang database and Weipu database to search Chinese literature. The publication date was set to be before October 2020. All of 459 English papers and 21 Chinese papers were found, and after deleting duplicate or irrelevant papers, a total of 6 papers related to adult-onset MSMD case reports were selected. All of them are in English, 9 patients were involved. Combined with the patient reported in this study, characteristics of clinical and genetic deficiency, diagnosis, treatment and prognosis of adult-onset MSMD were analyzed. Results A 27-year-old male initiated with “tuberculosis” at the age of 18 who then got improved after receiving standard treatment. During the next 9 years, he was diagnosed with “cellulitis”“rheumatoid arthritis”“non-tuberculosis infection” and some other diseases, having used more than 10 kinds of antibiotics, but still relapsed and progressed occasionally. Finally, he was diagnosed as “MSMD (TYK2 mutation), pulmonary non-tuberculous mycobacterial disease”. After treatment with intravenous gamma globulin, antibiotics and recombinant human interferon-γ (rhIFN-γ), his condition got improved significantly. As of October 2020, he was still receiving interferon-γ therapy. A total of 10 patients were included in the literature review: 6 males and 4 females; aged 18-47 years old; 4 had IFN-γR1 deficiency, 3 had IL-12Rβ1 deficiency, 2 had NEMO deficiency and 1 had TYK2 deficiency; 6 were infected with Mycobacterium avium, 1 with Mycobacterium tuberculosis, 1 with Mycobacterium asiaticum, 1 with Brucella Mycobacterium, 1 with Mycobacterium chelonae combined with Mycobacterium gordonae. Affected organs were mainly lymph nodes (7 cases), lungs (4 cases), skin (4 cases),bone (4 cases), etc. Conclusion Adult-onset MSMD presents with complex clinical manifestations and is difficult to diagnose. For mycobacterium infected patients with multi-lesions (such as lymph nodes, lungs, skin, bone, etc.) and long-lasting disease course, MSMD should be considered. The diagnosis should be made with genetic test without delay.

Key words: Adult, Genes, Mutation, Genetic predisposition to disease, Mycobacterium infections, Consensus development conferences as topic