Objective: To analysis the clinical characteristics and investigate the early diagnosis and treatment of neonate with CHI,guiding future clinical diagnosis and treatment.Methods: Retrospective analyse the history,clinical manifestation,auxiliary examination and treatment of one neonatal CHI case with typical triad in detail,and review the relevant literature.Results: Patient onset in neonatal period,hypoglycemia found 3 hours after birth.Both enter feeding and intravenous infusion rate of glucose>10mg/(kg·min)and hydrocortisone do not increase GLU.The clinical manifestations of the patient were not irritability,drowsiness,limb shaking,convulsions,profuse sweating,pallor,etc.except for low reaction.Controlling GLU by raising the glucose speed and hydrocortisone,but the effect is not good.Diagnosis HI by the ratio of INS to GLU>0.3.Return to normal GLU through oral diazoxide and simultaneous oral hydrochlorothiazide to prevent side effects of diazoxide.The result of gene analysis was ABCC8 gene mutation,which accorded with known CHI mutation.Follow-up:at present,diazoxide is regularly taken orally without hypoglycemia occurred.Conclusion: The clinical manifestations of neonatal CHI are atypical and difficult to detect,hypoglycemia was directly detected by routine postnatal GLU monitoring.CHI should be highly suspected when the intravenous infusion rate of glucose>10mg/(kg·min)stills fails to correct hypoglycemia.CHI can make early diagnosis by monitoring GLU,INS and gene analysis.Continuous hypoglycemia caused by CHI can cause brain damage,and the treatment is mainly to correct hypoglycemia,diazoxide is the first-line therapeutic drug for CHI. |