Supplementary Material for: Diagnosis and treatment of inherited renal tubular dysgenesis caused by ACE gene mutation：A single center experience

Autosomal Recessive Renal Tubular Dysgenesis (ARRTD) is a rare and severe condition, and current methods for early diagnosis and treatment of this disease remain unclear. Here, we describe three patients with ARRTD. They come from three independent pedigrees and harbor completely different ACE gene mutation types. Two infants died of the disease shortly after birth despite treatment attempts, while one infant showed improvement with symptomatic therapies including blood pressure elevation, respiratory support, diuretics, and CRRT, and was discharged. During the 27-month follow-up, this patient exhibited normal renal function and ultrasound findings. For fetuses with diagnosed ARRTD, symptomatic treatment for oligohydramnios and interventions to promote fetal maturation before preterm birth are important. Postnatally, critical management strategies include respiratory support, blood pressure stabilization, and renal support/replacement. With effective treatment, ARRTD patients have the potential to achieve long-term survival and normal renal function.

常染色体隐性遗传性肾小管发育不良（Autosomal Recessive Renal Tubular Dysgenesis, ARRTD）是一种罕见且危重的疾病，目前针对该疾病的早期诊断与治疗方案仍不明确。本文报道3例ARRTD患者，他们分别来自3个独立家系，携带完全不同的血管紧张素转换酶（ACE）基因突变类型。其中2名婴儿尽管接受了尝试性治疗，仍在出生后不久因该病夭折；另1名婴儿通过包括血压提升、呼吸支持、利尿剂应用及连续肾脏替代治疗（CRRT）在内的对症治疗后病情好转并出院。在27个月的随访期间，该患者的肾功能及肾脏超声检查结果均维持正常。对于确诊为ARRTD的胎儿，针对羊水过少的对症治疗以及早产前促进胎儿成熟的干预措施至关重要。产后关键管理策略包括呼吸支持、血压稳定治疗及肾脏支持/替代治疗。通过有效的治疗，ARRTD患者有望实现长期生存并维持正常肾功能。