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Clinical characteristics of 18 children with congenital nephrogenic diabetes insipidus
ZHU Wan-hong, YANG Min, XIN Ying
2022, 37(12):
937-941.
DOI: 10.19538/j.ek2022120613
Objective To explore the clinical characteristics of congenital nephrogenic diabetes insipidus(CNDI) in children and improve the ability of diagnosis and treatment. Methods The clinical characteristics,laboratory examination,imaging findings,water deprivation vasopressin test results,gene detection and treatment effects of 18 children with CNDI admitted to Shengjing Hospital of China Medical University from January 2012 to December 2021 were retrospectively analyzed. Results Among the patients with CNDI,94.4% (17 cases) were male. The age ranged from 7 months to 7 years old,and they all developed within 2 years old. Most of them had symptoms of polydipsia and polyuria. The symptoms of 3 cases less than 1 year old were nonspecific,manifested as anorexia,nausea and vomiting,slow weight gain and intermittent fever,accompanied by severe hypernatremia as well. There were 14 cases(77.8%) of short stature and 4 cases(22.2%) had hydronephrosis. In 5 cases(27.8%),pituitary enhanced magnetic resonance imaging(MRI) showed that the high signal intensity of posterior pituitary disappeared or did not show clearly. Five cases underwent gene detection,and all of them were AVPR2 gene mutation. All patients were treated with hydrochlorothiazide,which was effective in some patients. Conclusion Most cases of CNDI occur at young age, and the symptoms of infants are atypical. For children with anorexia, nausea and vomiting, constipation, slow growth of height and weight, and intermittent fever, water and urine volume should be carefully recorded, urine specific gravity should be repeatedly measured, and water abstinence - vasopressin test and gene testing should be performed when necessary for clear diagnosis and early treatment. To avoid affecting the growth and development of children and the occurrence of urologic hydrops and renal damage.
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