Abstract: 　Objective　To explore the clinical characteristics of multi-system pseudohypoaldosteronism type Ⅰ(PHA1) in neonates. Methods　The clinical data of PHA1 in 2 neonates were reviewed and the related literature was reviewed. Results Two newborns, one boy and one girl, showed dehydration, poor response and feeding difficulties. One patient was clinically cured and the other died. A compound heterozygous mutation of SCNN1G gene was found by gene detection. A total of 40 PHA1 children including 2 cases in this study were reported in literatures. There were 19 boys and 21 girls, the age at onset ranged from 7 to 21 days and the average age at onset was 9.4±8.28 days. Six children (15.0%) had a family history of similar symptoms. All the 40 neonates (100%) had poor response, hyperkalemia and hyponatremia. Feeding difficulties (loss of appetite or difficulty in breastfeeding) were found in 38 cases (95.0%), vomiting in 21 cases (52.5%), diarrhea in 20 cases (50.0%) and rash in 15 cases (37.5%). Acidosis was found in 38 cases (95.0%), dehydration in 37 cases (92.5%), and poor weight gain in 37 cases (92.5%). Among them, 34 cases had gene detection and different types of mutations in the epithelial sodium channel (ENaC) gene were found. Hemopurification was performed in 21 cases (52.5%). Four patients (10.0%) died after abandoning treatment, and 4 were cured clinically. The disease was stable in 18 cases and unstable in 14 cases. Conclusions　The early manifestations of PHA1 are non-specific, and some of them have similar family history. Blood aldosterone, renin and gene examination should be performed as soon as possible in suspected patients, and early diagnosis can improve the prognosis.

Key words: multi-system pseudohypoaldosteronism type Ⅰ;　hereditary disease;　infant