探讨远端肾小管酸中毒(dRTA)伴周围神经损伤及疑似髓质海绵肾患儿临床特征及诊疗结果，并进行相关文献复习。

选择2024年7月于四川大学华西第二医院确诊的1例dRTA伴周围神经损伤及疑似髓质海绵肾患儿(患儿1)为研究对象。回顾性分析患儿1的临床病例资料，包括病史、临床表现、实验室检查与基因检测结果、治疗及随访结果等。分别以"肾小管酸中毒""髓质海绵肾""周围神经损伤"及"renal tubular acidosis""peripheral nerve damage""medullary sponge kidney""SLC4A1"为中、英文关键词，在中国知网、万方数据知识服务平台及PubMed数据库中检索明确诊断为SLC4A1基因突变所致dRTA伴周围神经损伤及疑似髓质海绵肾患儿。本研究遵循的程序符合修订的《世界医学协会赫尔辛基宣言》要求。监护人对患儿1的诊治知情同意。

①患儿1为女性，7岁，因"双下肢无力3 d"，于病例收集医院就诊。患儿的主要临床表现为双下肢无力为，无咳嗽、咽痛、呕吐、腹泻、腰痛、四肢疼痛或感觉异常等表现。入院相关辅助检查结果提示患儿1低钾血症、正常阴离子间隙高氯性代谢性酸中毒、肌酶升高、神经源性病变、疑似髓质海绵肾。对患儿1全外显子组测序(WES)分析结果显示，SLC4A1基因c．1765C>T(p.Arg589Cys)杂合子突变，根据临床表现、辅助检查与基因检测结果，被确诊为肾小管酸中毒伴周围神经损伤及疑似髓质海绵肾。患儿1经口服柠檬酸钾、B族维生素及大鼠神经生长因子治疗1个月后，症状明显缓解。复查结果显示，动脉血气分析、电解质及肌酶水平完全恢复正常。②文献复习结果：根据本研究设定的文献检索策略，国内外均未检索到关于儿童dRTA伴周围神经损伤及疑似髓质海绵肾患儿的相关研究文献报道。

目前尚无SLC4A1基因突变导致dRTA合并周围神经损害及髓质海绵肾的文献报道。本研究提出周围神经损害及髓质海绵肾与SCL4A1基因突变相关的可能性，是未来研究的关键领域。对该病患儿尽早完成WES对dRTA早期诊断具有重要意义。该病患儿早诊断、早治疗，可改善预后及生活质量。

To explore clinical characteristics and treatment results of a child with distal renal tubular acidosis (dRTA) accompanied by peripheral nerve injury and suspected medullary sponge kidney, and review related literature.

One girl (patient 1) with dRTA accompanied by peripheral nerve injury and suspected medullary sponge kidney who visited West China Second University Hospital, Sichuan University in July 2024 was selected as research subject. Her clinical data were retrospectively analyzed, including medical history, clinical manifestations, laboratory tests and genetic test results, treatment and follow-up results. Literature of children with a confirmed diagnosis of dRTA caused by SLC4A1 gene mutations with peripheral nerve damage and suspected medullary sponge kidney were retrieved with " renal tubular acidosis" " medullary sponge kidney" " peripheral nerve damage" and " SLC4A1" etc. as keywords in CNKI, Wanfang service platform and PubMed database. The procedure followed in this study was in accordance with the requirements of the revised Helsinki Declaration of the World Medical Association. The guardian provides informed consent for the diagnosis and treatment of Patient 1.

①Patient 1 is a 7-year-old female who visited the case collection hospital due to " weakness in both lower limbs for 3 days". The main clinical manifestation of the patient is weakness in both lower limbs, without cough, sore throat, vomiting, diarrhea, lower back pain, limb pain or sensory abnormalities. The results of relevant auxiliary examinations at admission suggest hypokalemia, normal anion gap hyperchlorination metabolic acidosis, elevated muscle enzymes, neurogenic lesions, and suspected medullary sponge kidney. Genetic analysis showed that the patient had a heterozygous mutation of SLC4A1 c. 1765C>T (p.Arg589Cys). Based on her clinical manifestations, auxiliary examinations, and genetic testing results, she was diagnosed as renal tubular acidosis with peripheral nerve damage and suspected medullary sponge kidney. After one month of treatment with oral potassium citrate, B vitamins, and rat nerve growth factor, the patient′s symptoms significantly improved. Reexamination showed that blood gas analysis, electrolyte and muscle enzyme levels have completely returned to normal.②Literature review results: According to the literature search strategy set in this study, no relevant literature reports on children with renal tubular acidosis accompanied by peripheral nerve injury and suspected medullary sponge kidney were found both domestically and internationally.

There are currently no reports of SLC4A1 gene mutations leading to dRTA combined with peripheral nerve damage and medullary sponge kidney. This case proposes the possibility of peripheral nerve damage and medullary sponge kidney being associated with SCL4A1 mutations, which may be a key area for future research. Early completion of WES is of great significance for the early diagnosis of dRTA. Early diagnosis and treatment of children with this disease can improve their prognosis and quality of life.