■急性肾损伤(AKI)是一种以肾功能迅速恶化和死亡率升高为特征的严重疾病,传统的生物标志物缺乏敏感性和特异性。罕见的肾小管间质疾病包括一系列疾病,主要包括单基因疾病,免疫相关疾病,和药物诱导的肾小管间质疾病。临床表现从电解质和酸碱失衡到肾功能不全,在高达20%的病例中与AKI相关。证据表明,罕见的肾小管间质性疾病可能为AKI的新型生物标志物和潜在治疗策略提供新的概念见解和观点。
■常染色体显性肾小管间质性肾病(ADTKD)和范可尼综合征(FS)是罕见的肾小管间质性疾病。在ADTKD中,UMOD和REN通过影响氧化应激和肾小球反馈与AKI密切相关,这为AKI提供了潜在的新生物标志物。罕见的肾小管间质疾病和AKI都有共同的病因和治疗反应。从机制的角度来看,罕见的肾小管间质疾病和AKI涉及肾小管转运体损伤,最初表现为肾小管间质障碍的肾小管功能障碍,并由于程序性细胞死亡和凋亡而发展为AKI,焦亡,或近端小管细胞坏死。此外,线粒体功能障碍已被确定为肾小管间质疾病和药物诱导的AKI的共同机制。PSS,或单克隆疾病。最后,AKI和FS患者以及动物模型对原发疾病的治疗反应良好.
■在这篇评论中,我们描述了ADTKD和FS的概述,以确定它们与AKI的关联。线粒体功能障碍有助于罕见的肾小管间质疾病和AKI,这可能提供一个潜在的治疗靶点。
UNASSIGNED: Acute kidney injury (AKI) is a severe condition marked by rapid renal function deterioration and elevated mortality, with traditional biomarkers lacking sensitivity and specificity. Rare tubulointerstitial diseases encompass a spectrum of disorders, primarily including monogenic diseases, immune-related conditions, and drug-induced tubulointerstitial diseases. The clinical manifestations vary from electrolyte and acid-base imbalances to kidney function insufficiency, which is associated with AKI in up to 20% of cases. Evidence indicated that rare tubulointerstitial diseases might provide new conceptual insights and perspectives for novel biomarkers and potential therapeutic strategies for AKI.
UNASSIGNED: Autosomal dominant tubulointerstitial kidney disease (ADTKD) and Fanconi syndrome (FS) are rare tubulointerstitial diseases. In ADTKD, UMOD and REN are closely related to AKI by affecting oxidative stress and tubuloglomerular feedback, which provide potential new biomarkers for AKI. Both rare tubulointerstitial diseases and AKI share etiologies and treatment responses. From the mechanism standpoint, rare tubulointerstitial diseases and AKI involve tubular transporter injury, initially manifesting as tubular dysfunction in tubulointerstitial disorder and progressing to AKI because of the programmed cell death with apoptosis, pyroptosis, or necroptosis of proximal tubule cells. Additionally, mitochondrial dysfunction has been identified as a common mechanism in both tubulointerstitial diseases and AKI induced by drugs, pSS, or monoclonal diseases. In the end, both AKI and FS patients and animal models responded well to the therapy of the primary diseases.
UNASSIGNED: In this review, we describe an overview of ADTKD and FS to identify their associations with AKI. Mitochondrial dysfunction contributes to rare tubulointerstitial diseases and AKI, which might provide a potential therapeutic target.