Wikiera Beata, Głab Ewa, Barg Ewa, Noczyńska Anna
Department of Endocrinology and Diabetology for Children and Adolescent, Universty of Medicine, Wrocław, Poland.
Pediatr Endocrinol Diabetes Metab. 2008;14(4):253-6.
We report 15 years follow-up of a girl born with nails hypothrophy and primary hypoaldosteronism. The failure to thrive, troubles with feeding and vomiting were observed since the first weeks of life. The results of the laboratory examination confirmed isolated hypoaldosteronism. The growth velocity was diminished and short stature was present during first 4 years of life. Thyroid and pituitary disturbances were excluded. At the age of 4 the treatment with fludrocortisone was gradually discontinued without clinical manifestation of aldosteron deficiency. The child was on high sodium chloride diet. The growth velocity improved. At the age of 7,5 years pubarche, lipid and carbohydrate disturbances occurred. The bone age was adequate to chronological age. The treatment with Cortineff and diet modification were recommended. Further improving in growth velocity and lowering in salt consumption were observed. Menarche occurred at the age of 12 years 8 months with subsequent monthly bleedings. She finished growth with height SDS -2.52 (target height SDS -1.71), and BMI SDS 1.83. The nails hypothrophy still maintains.
我们报告了一名出生时伴有指甲发育不全和原发性醛固酮增多症的女孩的15年随访情况。自出生后的最初几周起,就观察到其生长发育迟缓、喂养困难和呕吐。实验室检查结果证实为单纯性醛固酮增多症。在生命的头4年里,生长速度减慢且身材矮小。排除了甲状腺和垂体功能障碍。4岁时,氟氢可的松治疗逐渐停用,未出现醛固酮缺乏的临床表现。该儿童采用高氯化钠饮食。生长速度有所改善。7.5岁时,出现阴毛初现、脂质和碳水化合物紊乱。骨龄与实际年龄相符。建议使用考的松进行治疗并调整饮食。观察到生长速度进一步提高,盐摄入量降低。月经初潮发生在12岁8个月,随后每月行经。她成年时身高标准差评分(SDS)为-2.52(目标身高SDS为-1.71),体重指数SDS为1.83。指甲发育不全仍然存在。