3例患儿均为男性,足月儿,日龄为2,12,14天;症状出现至确诊时间为10,12,11天;分别因新生儿窒息、严重感染如败血症、肺炎、腹泻等收住院。对原发病积极有效治疗后,均出现烦渴、多饮、多尿,口唇樱红,皮肤干燥,不明原因低热以及顽固而又持续不易纠正的高氯性代谢性酸中毒,脱水及体重不增。实验室检查 全部病例均有代谢性酸中毒,血气分析(动脉化毛细血管血)pH值7.023～7.280,BE-5～-38.5mmol/L, 3 cases were male, full-term children, age 2,12,14 days; symptoms appear to the time of diagnosis of 10,12,11 days; were due to neonatal asphyxia, severe infections such as sepsis, pneumonia, diarrhea, etc. Admitted to hospital. After the active treatment of the primary disease, there are polydipsia, polydipsia, polyuria, lips Ying Hong, dry skin, unexplained fever and stubborn and persistent difficult to correct high chloride metabolic acidosis, dehydration and weight is not increase. Metabolic acidosis was detected in all cases of laboratory tests. Blood gas analysis (arterial capillaries blood) pH 7.023 ~ 7.280, BE-5 ~ -38.5mmol / L,