Abstract: Objective:To improve the early recognition and diagnosis of the neonates with autosomal recessive renal tubular dysgenesis (RTD). Methods:A preterm infant with RTD was reported and the clinical data were collected. Clinical features and gene sequencing of similar cases from published literatures were reviewed and systematically summarized. Results:The gestational age of the infant was 28+2 weeks and the birth weight was 1 090 g. No amniotic fluid was found and the Apgar scores were 8 at 1 min and 9 at 5 min. The antenatal care was performed regularly. In order to decrease the risk of oligohydramnios, the amniocentesis and amnioinfusion (with 0.9% normal saline) were performed at 23+5 weeks (290 mL) and 26+1 weeks (330 mL) during pregnancy. The previous three pregnancies were all complicated by oligohydramnios. The first baby died on the first day after birth, then the second and the third pregnancy were terminated at 22-23 weeks of gestational age. The baby showed poor response and respiratory distress, so high frequency oscillation ventilation was performed and pulmonary surfactant was administrated. Hypotension occured soon after birth and fluid therapy and dopamine were used, but hypotension was not controlled (mean arterial pressure 22-28 mmHg). Diuretics was used and urine output was only 0.14-0.31 mL·kg-1·h-1.The treatment was terminated requested by the parents, and the infant died at 44 h 45 min after birth. Renal histology revealed the absence of recognizable proximal tubules and dysgenesis of some distal renal tubules and collecting tubules, but with normal glomeruli. Two novel heterozygous mutations were identified in ACE gene (NM_000789) in this patient. Exon 4 was carrying a heterozygous nucleotide substitution c.538C>T predicting a premature stop codon (p.Arg180*), which was inherited from her mother, and in addition a paternally inherited heterozygous frameshift mutation c.3073_3074delTC (p.Ser1027Tyrfs*14) was found in exon 20. We found 11 articles in Chinese and PubMed database, which reported 36 families diagnosed as RTD with ACE gene mutations. Nine of the 37 families including the family in our department were consanguineous. A total of 64 fetuses or neonates with RTD were reported. Among them 40 mutations in ACE gene were found, and there were at least 1-4 fetus or neonates in each family. Oligohydramnios was usually detected in the middle of pregnancy, as early as 18 weeks of gestation. Termination of pregnancy was found in 10 cases, and stillbirth in 7 cases. Thirty-nine cases died after birth(37 preterm infants and 2 term infants). Among them, 33 cases died within less than 3 days, and 6 cases died in 3-28 days. The other 8 cases survived for more than 1 year, including 6 cases of chronic kidney disease, 1 case of kidney transplantation and 1 case of normal renal function. The main charateristics of neonates with RTD were respiratory distress, hypotension and anuria, and some patients would show skull ossification defects or microcolon(0.5-0.6 cm diameter). Conclusion:Genetic testing is of great importance for prenatal diagnosis and early diagnosis of autosomal recessive RTD.