宁夏地区160046名新生儿先天性肾上腺皮质增生症筛查与治疗随访分析

Screening and follow-up treatment of 160 046 neonates with congenital adrenal hyperplasia in Ningxia, China

摘要:

目的 了解宁夏地区新生儿先天性肾上腺皮质增生症 （CAH） 的发病率和随访治疗情况。方法 对宁夏地区所有助产机构 （136家） 2014年7月至2016年3月出生的160046名新生儿进行CAH筛查的资料进行分析总结。结果 160046名接受CAH筛查的新生儿中，筛查阳性70例 （0.044%）；确诊CAH 11例，CAH发病率为1/14550 （0.069‰），其中失盐型9例 （死亡2例），单纯男性化2例。9例患儿一经确诊，立即给予糖皮质激素治疗，患儿生长发育良好。结论 宁夏地区新生儿CAH发病率为1/14550；在宁夏地区开展CAH筛查是非常必要的，对确诊患儿给予积极治疗可改善预后。

Abstract:

Objective To investigate the incidence of congenital adrenal hyperplasia (CAH) and treatment outcomes in neonates in Ningxia, China. Methods The clinical data of CAH screening for 160 046 neonates who were born in midwifery institutions in Ningxia from July 2014 to March 2016 were analyzed. Results Among the 160 046 neonates who underwent CAH screening, 70 (0.044%) obtained a positive result and 11 were diagnosed with CAH; the incidence rate of CAH was 1/14 550 (0.069‰). Among the 11 neonates diagnosed with CAH, 9 had the salt wasting type (2 died) and 2 had simple virilization. The 9 neonates were given glucocorticoids immediately once diagnosed and all of them achieved good growth and development. Conclusions The incidence of neonatal CAH in Ningxia is 1/14 550. It is very necessary to carry out CAH screening in Ningxia, and active treatment can improve the prognosis of neonates with CAH.