肾小管酸中毒的诊治进展  

Diagnosis and treatment of renal tubular acidosis:a research progress

作　　者：谢静怡 雷凤英[1] 覃远汉[1] XIE Jingyi;LEI Fengying;QIN Yuanhan(Department of Pediatrics,the First Affiliated Hospital of Guangxi Medical University,Nanning 530021,Guangxi,China)

机构地区：[1]广西医科大学第一附属医院儿科,广西南宁市530021

出　　处：《广西医学》2025年第2期165-169,共5页Guangxi Medical Journal

摘　　要：肾小管酸中毒(RTA)是由于近端肾小管重吸收HCO_(3)^(-)障碍或远端肾小管分泌H~+障碍导致的一组临床综合征,以阴离子间隙正常的高血氯性代谢性酸中毒为特征。RTA的临床表现复杂多样,以生长发育迟缓多见。按肾小管受损部位和临床表现,RTA可分为4种类型:Ⅰ型RTA(远端RTA)、Ⅱ型RTA(近端RTA)、Ⅲ型RTA(混合型RTA)、Ⅳ型RTA(高钾型RTA)。RTA相同的基因突变可出现不同的临床表型,不同的致病基因也可导致相似的临床表型。RTA的治疗目标是纠正代谢性酸中毒、避免并发症发生。一种结合柠檬酸钾和碳酸氢钾优点的新型药物缓释制剂ADV7103,在控制代谢性酸中毒方面优于传统标准治疗。早期接受足量碱治疗的患者一般预后较好,但仍可发生或长期存在并发症。本文主要针对不同类型RTA的特征、RTA相关基因突变情况、RTA的治疗和预后等展开综述,旨在提高临床医生对该病的认识。Renal tubular acidosis(RTA)is a group of clinical syndromes caused by obstruction of proximal renal tubular reabsorption of HCO_(3)^(-)or dysfunction of distal renal tubular secretion H+,being characterized by hyperchloremic metabolic acidosis with normal anion gap.The clinical manifestations of RTA are complex and diverse,and growth retardation is the most common.RTA can be classified into 4 types according to the location of renal tubular damage and clinical manifestations:typeⅠRTA(distal RTA),typeⅡRTA(proximal RTA),typeⅢRTA(mixed RTA),and typeⅣRTA(hyperkalemia RTA).The same gene mutation of RTA can lead to different clinical phenotypes,and different pathogenic genes can also lead to similar clinical phenotypes.The goal of RTA treatment is to correct metabolic acidosis and avoid complications.ADV7103,a novel,extended⁃release drug formulation that combines the advantages of potassium citrate and potassium bicarbonate,is superior to traditional standard treatment in controlling metabolic acidosis.Patients receiving adequate alkali therapy in the early stage generally have a favorable prognosis,but complications may still occur or persist for a long time.This paper mainly reviews the characteristics of different types of RTA,RTA related gene mutations,and treatment and prognosis of RTA,etc.,aiming at improving clinicians'understanding of this disease.

关 键 词：肾小管酸中毒 特征 基因突变 治疗 预后 综述 

分 类 号：R726.9[医药卫生—儿科]