1例儿童1型Dent病伴Bartter综合征病例分析并文献复习

A Case of Type 1 Dent Disease in Children with Bartter Syndrome and Literature Review

目的:分析1例1型Dent病伴Bartter综合征样患儿的临床症状及诊疗过程,以提高临床对该疾病的认识。方法:采用回顾性分析方法,收集我院经临床特征和基因检测确诊的1例1型Dent病伴Bartter综合征患儿的临床资料,分析其临床特征及诊疗过程并复习文献。结果:本例患儿以Bartter综合征样表现(顽固性低钾血症,血浆肾素、醛固酮水平升高,血压正常)为初始表现,并有尿蛋白定量明显升高,以低分子量蛋白(LMWP)尿为主,α1、β2微球蛋白(MG)水平明显升高,基因分析提示CLCN5基因c.1265-c.1266 insA(半合子突变)。但本例患儿初始肾功能正常,泌尿系统超声检查结果未见异常。初期采用饮食调控(如低草酸盐、低钠、低钙等),口服补钾及盐酸贝那普利0.25 mg/(kg·d)治疗1个月后,发生急性肾损伤,给予甲泼尼龙及血液净化治疗后肾功能好转。结论:Dent病临床表型复杂,需及时完善基因检测协助诊断,具有Bartter综合征临床症状的Dent病患者易发展为肾功能衰竭,应及时评估肾功能及长期规律随访。

Objective:To analyze the clinical symptoms and treatment process of a cases of type 1 Dent disease in children with Bartter syndrome,so as to enhance clinical awareness of the disease.Methods:Retrospective analysis was conducted by collecting clinical data from a patient diagnosed with type 1 Dent disease complicated with Bartter syndrome through clinical characteristics and genetic testing.The clinical characteristics and treatment process were summarized,and relevant literature was reviewed.Results:The child initially presented with Bartter syndrome(persistent hypokalemia,elevated plasma renin and aldosterone levels,normal blood pressure).Significant increases were observed in quantitative urine protein,predominantly low-molecular-weight proteins(LMWP),and elevated levels ofα1 andβ2 microglobulin(MG).Genetic analysis revealed a heterozygous mutation in the CLCN5 gene c.1265-c.1266 insA.The child exhibited normal renal function at the initial stage,with no abnormalities detected in the urinary system on ultrasound examination.Initially,dietary adjustments(such as low oxalate,low sodium and low calcium)and oral potassium supplementation,along with benazepril at 0.25 mg/(kg·d),were implemented.However,after one month of treatment,the child experienced acute kidney injury,and subsequent administration of methylprednisolone and blood purification led to improvement in renal function.Conclusion:The clinical phenotype of Dent disease is complex and requires timely improvement of genetic testing for co-diagnosis.Dent patients with Bartter syndrome are prone to develop renal failure,and renal function should be evaluated in a timely manner and followed up regularly for a long period of time.