Abstract：
BACKGROUND: Subjects with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) have subnormal adult height. There are several potential APECED-related risk factors for suboptimal height attainment during childhood.
OBJECTIVE: To determine the growth patterns in children with APECED.
METHODS: Retrospective longitudinal study.
METHODS: The Finnish national APECED cohort.
METHODS: 59 children with APECED.
METHODS: Length/height and weight z-scores from birth to the end of prepuberty.
RESULTS: Collectively, 59 children [30 (51%) girls] were included. Their median birth weight z-score (-0.60) was below the population average; 12 (20%) patients were born small for gestational age. Height attainment progressively declined from birth until the end of prepuberty (z-score -1.95), whereas weight-for-height z-score did not (+0.26). Of the 59 patients, 38 (64%) had all height z-scores below 0 during prepuberty, and seven (12%) had z-scores below -2.0. Age at the end of prepuberty, number of APECED manifestations, duration of glucocorticoid treatment, and growth hormone deficiency correlated negatively with height z-score at the end of prepuberty (p < 0.0001; p = 0.041; p = 0.013; p = 0.034, respectively).
CONCLUSIONS: Children with APECED had a progressive growth impairment from birth through prepuberty. Multiple predisposing risk factors were recognized, including disease severity and growth hormone deficiency. Timely interventions are needed to ensure optimal height attainment and new treatment options need to be developed.
OBJECTIVE: To determine the growth patterns in children with APECED.
METHODS: Retrospective longitudinal study.
METHODS: The Finnish national APECED cohort.
METHODS: 59 children with APECED.
METHODS: Length/height and weight z-scores from birth to the end of prepuberty.
RESULTS: Collectively, 59 children [30 (51%) girls] were included. Their median birth weight z-score (-0.60) was below the population average; 12 (20%) patients were born small for gestational age. Height attainment progressively declined from birth until the end of prepuberty (z-score -1.95), whereas weight-for-height z-score did not (+0.26). Of the 59 patients, 38 (64%) had all height z-scores below 0 during prepuberty, and seven (12%) had z-scores below -2.0. Age at the end of prepuberty, number of APECED manifestations, duration of glucocorticoid treatment, and growth hormone deficiency correlated negatively with height z-score at the end of prepuberty (p < 0.0001; p = 0.041; p = 0.013; p = 0.034, respectively).
CONCLUSIONS: Children with APECED had a progressive growth impairment from birth through prepuberty. Multiple predisposing risk factors were recognized, including disease severity and growth hormone deficiency. Timely interventions are needed to ensure optimal height attainment and new treatment options need to be developed.
摘要：
背景：患有自身免疫性多内分泌病-念珠菌病-外胚层营养不良（APECED）的受试者成年身高低于正常。儿童期身高达到次优有几个潜在的APECED相关风险因素。
目的：确定APECED患儿的生长模式。
方法：回顾性纵向研究。
方法：芬兰国家APECED队列。
方法：59名APECED儿童。
方法：从出生到青春期前结束的长度/身高和体重z评分。
结果：总的来说，包括59名儿童[30名（51％）女孩]。他们的中位出生体重z评分（-0.60）低于人口平均水平；12例（20％）患者出生时小于胎龄。身高从出生到青春期结束逐渐下降（z分数-1.95），而身高体重z评分没有(+0.26).59名患者中,38（64％）在青春期前所有身高z得分均低于0，和7（12％）的z分数低于-2.0。青春期结束时的年龄，APECED表现的数量，糖皮质激素治疗的持续时间，和生长激素缺乏与青春期前结束时的身高z评分呈负相关（p<0.0001；p=0.041；p=0.013；p=0.034）。
结论：患有APECED的儿童从出生到青春期前都有进行性生长障碍。认识到多种易感危险因素，包括疾病严重程度和生长激素缺乏。需要及时干预以确保达到最佳身高，并需要开发新的治疗方案。
目的：确定APECED患儿的生长模式。
方法：回顾性纵向研究。
方法：芬兰国家APECED队列。
方法：59名APECED儿童。
方法：从出生到青春期前结束的长度/身高和体重z评分。
结果：总的来说，包括59名儿童[30名（51％）女孩]。他们的中位出生体重z评分（-0.60）低于人口平均水平；12例（20％）患者出生时小于胎龄。身高从出生到青春期结束逐渐下降（z分数-1.95），而身高体重z评分没有(+0.26).59名患者中,38（64％）在青春期前所有身高z得分均低于0，和7（12％）的z分数低于-2.0。青春期结束时的年龄，APECED表现的数量，糖皮质激素治疗的持续时间，和生长激素缺乏与青春期前结束时的身高z评分呈负相关（p<0.0001；p=0.041；p=0.013；p=0.034）。
结论：患有APECED的儿童从出生到青春期前都有进行性生长障碍。认识到多种易感危险因素，包括疾病严重程度和生长激素缺乏。需要及时干预以确保达到最佳身高，并需要开发新的治疗方案。
