Huang Wei, Liu Cui-Hua, Li Ji-Tong, Liu Yu-Jie, Li Yu-Liu, Tian Ming, Cao Guang-Hai, Zhang Shu-Feng
Department of Nephrology and Rheumatology, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou 450018, China.
Zhongguo Dang Dai Er Ke Za Zhi. 2023 Jul 15;25(7):732-738. doi: 10.7499/j.issn.1008-8830.2303069.
To investigate the genotypes of the pathogenic gene and the characteristics of clinical phenotypes in children with Alport syndrome (AS).
A retrospective analysis was performed for the genetic testing results and clinical data of 19 AS children with gene mutations.
Among the 19 children with AS caused by gene mutations, 1 (5%) carried a new mutation of the gene, i.e., c.3372A>G(p.P1124=) and presented with AS coexisting with IgA vasculitis nephritis; 3 children (16%) had large fragment deletion of the gene, among whom 2 children (case 7 had a new mutation site of loss51-53) had gross hematuria and albuminuria at the onset, and 1 child (case 13 had a new mutation site of loss3-53) only had microscopic hematuria, while the other 15 children (79%) had common clinical phenotypes of AS, among whom 7 carried new mutations of the gene. Among all 19 children, 3 children (16%) who carried gene mutations also had gene mutations, and 1 child (5%) had gene mutations. Among these children with double gene mutations, 2 had gross hematuria and proteinuria at the onset.
This study expands the genotype and phenotype spectrums of the pathogenic gene for AS. Children with large fragment deletion of the gene or double gene mutations of with or tend to have more serious clinical manifestations.
研究Alport综合征（AS）患儿致病基因的基因型及临床表型特点。
对19例有基因突变的AS患儿的基因检测结果及临床资料进行回顾性分析。
在19例由基因突变引起的AS患儿中，1例（5%）携带该基因新突变，即c.3372A>G（p.P1124=），并表现为AS合并IgA血管炎肾病；3例患儿（16%）存在该基因大片段缺失，其中2例患儿（病例7有新的缺失51 - 53突变位点）起病时出现肉眼血尿和蛋白尿，1例患儿（病例13有新的缺失3 - 53突变位点）仅出现镜下血尿，其余15例患儿（79%）具有AS的常见临床表型，其中7例携带该基因新突变。在全部19例患儿中，3例（16%）携带该基因突变的患儿同时存在该基因突变，1例患儿（5%）存在该基因突变。在这些双基因突变患儿中，2例起病时出现肉眼血尿和蛋白尿。
本研究扩展了AS致病基因的基因型和表型谱。存在该基因大片段缺失或该基因与或双基因突变的患儿往往具有更严重的临床表现。
