Study On Correlation Between Variation Of Pathogenic Genes In Single-gene Lupus And Clinical Phenotype In Children With Systemic Lupus Erythematosus

ObjectiveMonogenic lupus is an autoimmune disease with a lupus-like phenotype caused by homozygous or heterozygous mutations in a single gene.It often appears early in life and is often accompanied by severe clinical manifestations.Although monogenic lupus is rare,it may provide important insights into the etiology and mechanism of systemic erythema,as well as potential treatment strategies.MethodsThis study retrospectively analyzed the children patients diagnosed with systemic lupus erythematosus in our hospital from July,2016 to December,2022.12,and summarized and analyzed the clinical and genetic variation characteristics of the patients who underwent genetic testing.For the patients with disease-causing gene variation,the pathogenicity of the mutation site was analyzed,and the clinical characteristics of the patient were summarized and the relationship between the mutation and the disease-causing gene was analyzed.In addition,patients were divided into positive group and negative group according to the presence or absence of mutations in the pathogenic genes of single-gene lupus to compare whether there were differences in clinical symptoms between the two groups.Results(1)The male/female ratio of 69 total patients in this study was 2.8:1<9:1,indicating lupus in children.The difference was smaller than the typical distribution of adult lupus.At the same time,in the positive group,the male-to-male ratio of children with single-gene lupus gene variation was smaller,1.6:1(11 females/61.1%,7 males/38.9%),indicating that there may be significance in strengthening the research on male children with single-gene lupus.(2)Through the statistical description of the clinical symptoms of 69 total children,it was found that the children were systemic.Lupus erythematosus often involved the kidney(54/69=78.3%)and the blood system(54/69=78.3%).Lupus nephritis type IV was the most common pathological type in the overall,positive and negative groups.(3)Through statistical analysis of the clinical characteristics of 27 children undergoing genetic testing,it was found that in the children with and without singlegene lupus pathogenic gene variation,neutropenia,direct Coombs test,PANCA positive P value<0.05,the difference was statistically significant,indicating that there were differences in clinical characteristics between the positive group and the negative group.Conclusion(1)This study showed that the sex difference of lupus in children was smaller than that of adult lupus.(2)This study found that children with systemic lupus erythematosus often involved the kidney and blood system,renal pathology Lupus nephritis type Ⅳ was the most common type.(3)In this study,the presence and absence of single-gene lupus pathogenic gene variants were found The clinical characteristics of children with genetic variation are different.(4)In this study,the positive group had a high proportion of new pathogenic gene mutation sites,up to 93.0%.