Analysis of Clinical Characteristics and Gene Variation of Renal Antidiuretic Inappropriate Syndrome Caused by AVPR2 Gene Variation
Objective To investigate the clinical characteristics and mutation spectrum of children with renal improper antidiuretic syndrome(NSIAD)caused by AVPR2 gene variation.Methods The clinical data of a patient with NSIAD were retrospective analyzed,and the relevant literature was reviewed.Results The patient,male,3 years and 1 month old,visited the clinic due to intermittent convulsions accompanied by unconsciousness and hyponatremia for 1 month.Laboratory tests showed hyponatremia,low plasma osmotic pressure,high urine sodium and high urine osmotic pressure.Next-generation sequencing revealed a variant of c.409C＞T(R137C)in the AVPR2 gene,which was derived from his unaffected mother.After the treatment of fluid restriction and sodium supplement,blood sodium rose to normal.During follow-up,blood electrolyte was normal.Seventy-one Chinese and English literatures were searched.A total of 63 cases were collected from 25 families,of which 26 cases were infants or children(40％),most of them were convulsive(62.5％),and 5 of them were girls(19.2％).A total of 5 mutations of AVPR2 gene were reported,all of which were missense mutations,among which R137C mutation accounted for 87.5％.Water restriction and oral urea were the main treatments.Conclusion NSAID is rare in clinic,with diversity of race,gene and clinical phenotype.As refractory hyponatremia occurs in infants,AVPR2 gene should be detected.Early diagnosis and treatment can correct refractory hyponatremia and reduce nerve damage.
万方数据
维普
