Zhuang Jing, Zhao Zhigang, Zhang Changrong, Song Xue, Lu Chen, Tian Xuefei, Jiang Hong
Division of Nephrology, Department of Internal, People's Hospital of Xinjiang Uygur Autonomous Region, Urumqi, China.
Division of Nephrology, Department of Internal Medicine, The First Affiliated Hospital of Xinjiang Medical University, Urumqi, China.
Front Med (Lausanne). 2022 Nov 3;9:1059740. doi: 10.3389/fmed.2022.1059740. eCollection 2022.
Minimal change disease (MCD) is one of the common causes of idiopathic nephrotic syndrome (INS), accounting for 10-20% of INS in adults. Glucocorticoids are the most commonly used and effective drugs in the treatment of MCD, but there is still a proportion of adult patients with MCD who are characterized by glucocorticoid resistance, glucocorticoid dependence, and frequent relapse, which are defined as refractory nephrotic syndrome. Glucocorticoid combination with immunosuppressants is frequently used in patients with refractory nephrotic syndrome, and patients concerned about adverse effects caused by long-term high-dose glucocorticoid therapy. Recent studies have suggested that Rituximab (RTX), a chimeric monoclonal antibody targeted against the pan-B-cell marker CD20, combined with a small or medium dose of glucocorticoid has a beneficial effect with less adverse effects on adult patients with refractory MCD. β-thalassemia is an inherited hemoglobulin disorder caused by the mutation of genes that encode β-globin and results in ineffective erythropoiesis. We here report a case of an adult patient with refractory MCD complicated with β-thalassemia minor accompanied by autoimmune hemolytic anemia (AIHA). MCD relapsed several times despite treatment using glucocorticoid combined with or without different immunosuppressive agent regimens. The β-thalassemia minor was caused by heterozygosity for a 4-base deletion mutation [codons 41/42 (-TTCT) BETA] of the β-globin gene. After the administration of RTX, MCD achieved clinical complete remission, and the anemia due to mild β-thalassemia recovered to normal as well. The disease situation remained stable during 36 months of follow-up. These findings suggest that RTX may contribute to the improvement of refractory MCD and anemia in β-thalassemia minor accompanied by AIHA.
微小病变病(MCD)是特发性肾病综合征(INS)的常见病因之一,占成人INS的10%-20%。糖皮质激素是治疗MCD最常用且有效的药物,但仍有一部分成年MCD患者表现为糖皮质激素抵抗、糖皮质激素依赖和频繁复发,这些被定义为难治性肾病综合征。糖皮质激素联合免疫抑制剂常用于难治性肾病综合征患者,且患者担心长期大剂量糖皮质激素治疗引起的不良反应。最近的研究表明,利妥昔单抗(RTX),一种靶向泛B细胞标志物CD20的嵌合单克隆抗体,联合小剂量或中等剂量糖皮质激素对成年难治性MCD患者有有益作用且不良反应较少。β地中海贫血是一种遗传性血红蛋白疾病,由编码β珠蛋白的基因突变引起,导致无效造血。我们在此报告一例成年难治性MCD患者,合并轻度β地中海贫血并伴有自身免疫性溶血性贫血(AIHA)。尽管使用糖皮质激素联合或不联合不同免疫抑制剂方案进行治疗,MCD仍多次复发。轻度β地中海贫血是由β珠蛋白基因4碱基缺失突变[密码子41/42(-TTCT)BETA]杂合子引起的。给予RTX后,MCD实现临床完全缓解,轻度β地中海贫血所致贫血也恢复正常。在36个月的随访期间病情保持稳定。这些发现表明,RTX可能有助于改善合并AIHA的轻度β地中海贫血患者的难治性MCD和贫血。