Diagnosis and Treatment of Inherited Renal Tubular Dysgenesis Caused by ACE Gene Mutation: A Single-Center Experience.

Introduction: 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 3 patients with ARRTD.

Case presentation: The 3 cases 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.

Conclusion: 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.