重型β地中海贫血患儿使用地拉罗司致近端肾小管酸中毒的临床特征  

Clinical characteristics of proximal tubular acidosis induced by deferasirox in children withβ-thalassemia major

作　　者：陈娟娟[1] 吕潮阳 邓蔓青 CHEN Juanjuan;LYU Chaoyang;DENG Manqing(Department of Pediatrics,the Second People′s Hospital of Shenzhen,the First Affiliated Hospital of Shenzhen University,Shenzhen,Guangdong,518000;Department of Pharmacy,Dongguan Maternal and Child Health Hospital,Dongguan,Guangdong,523000;Department of Pharmacy,the Second People′s Hospital of Shenzhen,the First Affiliated Hospital of Shenzhen University,Shenzhen,Guangdong,518000)

机构地区：[1]深圳市第二人民医院/深圳大学第一附属医院儿科,广东深圳518000 [2]东莞市妇幼保健院药学部,广东东莞523000 [3]深圳市第二人民医院/深圳大学第一附属医院药学部,广东深圳518000

出　　处：《实用临床医药杂志》2024年第24期124-128,共5页Journal of Clinical Medicine in Practice

摘　　要：目的分析重型β地中海贫血患儿使用地拉罗司导致近端肾小管酸中毒的临床特征。方法回顾性分析5例重型β地中海贫血患儿发生近端肾小管酸中毒的临床表现、实验室检查结果、影像学特征、治疗方法及转归。结果5例重型β地中海贫血患儿的年龄为5~16岁,其中男2例,女3例。2例确诊为范可尼综合征。4例地拉罗司剂量超过常规剂量,其中包括1例铁蛋白水平快速下降。3例以胃肠道症状为首发症状,2例仅有轻微纳差表现。临床表现严重程度、酸中毒程度及持续时间之间存在显著相关性。所有患儿尿β_(2)微球蛋白水平异常升高,4例患儿伴有肝脏铁沉积。经地拉罗司减量或停药及对症处理后,5例患儿的肾小管功能均逐渐恢复。结论地拉罗司所致重型β地中海贫血患儿的近端肾小管酸中毒可表现为部分或完全性肾小管酸中毒,可能与高剂量地拉罗司应用及体内铁水平的快速下降有关。建议长期使用地拉罗司的患儿定期监测相关指标。发现肾小管酸中毒后,应尽快调整药物剂量或停药,大部分患儿的肾小管功能可恢复。Objective To analyze the clinical characteristics of proximal tubular acidosis induced by deferasirox in children withβ-thalassemia major.Methods This study retrospectively analyzed the clinical manifestations,laboratory test results,radiological features,treatment methods and outcomes of proximal tubular acidosis in 5 children withβ-thalassemia major.Results Five patients aged 5 to 16 years,included 2 males and 3 females.Two patients were diagnosed with Fanconi syndrome.Four patients received deferasirox doses exceeding the conventional dose,including one with a rapid decline in ferritin levels.Gastrointestinal symptoms were the initial manifestations in 3 patients,while only mild anorexia was observed in 2 patients.There were significant correlations between the severity of clinical manifestations,the degree of acidosis and its duration.All patients had abnormally elevated urineβ_(2)-microglobulin levels,and 4 patients had hepatic iron deposition.After reducing or discontinuing deferasirox and providing symptomatic treatment,the renal tubular function of all 5 patients gradually recovered.Conclusion Proximal tubular acidosis induced by deferasirox in patients withβ-thalassemia major can manifest as partial or complete proximal tubular acidosis,which may be associated with high-dose deferasirox administration and rapid decreases in body iron levels.Regular monitoring of relevant indicators is recommended for children receiving long-term deferasirox treatment.Once proximal tubular acidosis is detected,drug dosage adjustment or discontinuation should be promptly implemented,and renal tubular function can recover in most patients.

关 键 词：地拉罗司 重型Β地中海贫血 近端肾小管酸中毒 β_(2)微球蛋白 肾小管功能 铁沉积 

分 类 号：R692.6[医药卫生—泌尿科学] R595.4[医药卫生—外科学] R556[医药卫生—临床医学]