Glomerular IgA Deposition and Serum Antineutrophil Cytoplasmic Antibody Positivity in a Child With Dystrophic Epidermolysis Bullosa: Case Report and Literature Review.
Glomerular IgA Deposition and Serum Antineutrophil Cytoplasmic Antibody Positivity in a Child With Dystrophic Epidermolysis Bullosa: Case Report and Literature Review.
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DOI：
10.3389/fped.2022.939069
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发表时间：
2022
影响因子：
2.6
通讯作者：
Mao, Jianhua
中科院分区：
文献类型：
--
作者：
Yu, Ling;Huang, Guoping;Lu, Zhihong;Wang, Jingjing;Gu, Weizhong;Li, Junping;Mao, Jianhua
关键词：
大疱性表皮松解症（EB）患者可出现严重的泌尿系统并发症，如输尿管积水、肾淀粉样变性和IgA肾病（IgAN）。在这里，我们报告了一名携带致病性COL7A1突变的12岁男孩，诊断为营养不良性大疱性表皮松解症（DEB）。患者同时有肉眼血尿和蛋白尿。肾活检病理及免疫染色显示肾小球系膜细胞增多，IgA沉积，提示IgAN。有趣的是，血清学评估显示抗中性粒细胞胞浆抗体（ANCA）针对髓过氧化物酶和蛋白酶3。糖皮质激素、免疫抑制剂、血管紧张素转换酶抑制剂和抗生素治疗能有效改善血蛋白尿，anca也变为阴性。本病例表现出独特的临床表现和病理改变。IgAN和血清ANCA阳性可能与DEB继发的持续感染有关，可以通过对原发性IgAN的经验性治疗来控制。
Patients with epidermolysis bullosa (EB) could develop significant urological complications, such as hydroureteronephrosis, renal amyloidosis and IgA nephropathy (IgAN). Here, we presented a 12-year-old boy carrying pathogenic COL7A1 mutation with diagnosis of dystrophic epidermolysis bullosa (DEB). The patient had concomitant gross hematuria and proteinuria. Pathological examinations and immunostaining of renal biopsy showed glomeruli with mesangial hypercellularity and deposition of IgA, which were indicative of IgAN. Interestingly, serological evaluation showed antineutrophil cytoplasmic antibody (ANCA) directed against myeloperoxidase and proteinase 3. Treatment with glucocorticoid, immunosuppressants, angiotensin-converting enzyme inhibitor and antibiotics efficiently improved hemato-proteinuria, and ANCAs became negative as well. This case of DEB presented a unique collection of clinical manifestations and pathological alterations. IgAN and serum positive ANCA were possibly associated with sustained infection secondary to DEB, and can be managed by empirical treatment for primary IgAN.
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影响因子：
1.1
作者：
Huang, Xin;Wang, Yuan;Zhang, Jingbo
通讯作者：
Zhang, Jingbo
影响因子：
6
作者：
Hughley E;Nehus EJ;VandenHeuvel K;Augsburger BD;Jain NG;Lucky AW
通讯作者：
Lucky AW
DOI：
10.2215/cjn.05070516
发表时间：
2017-01-01
影响因子：
9.8
作者：
Satoskar, Anjali A.;Suleiman, Sarah;Nadasdy, Tibor
通讯作者：
Nadasdy, Tibor
影响因子：
3.3
作者：
Haas, Mark;Racusen, Lorraine C.;Bagnasco, Serena M.
通讯作者：
Bagnasco, Serena M.
ANCA阳性IgA肾病全身症状的临床价值
影响因子：
3.4
作者：
Xie, Lijiao;He, Jianghua;Zhang, Jingbo
通讯作者：
Zhang, Jingbo