State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin, China.
Department of Pediatric, Tianjin Medical University General Hospital, Tianjin, China.
J Pediatr. 2022 Jan;240:177-185. doi: 10.1016/j.jpeds.2021.09.015. Epub 2021 Sep 17.
To systematically describe the short stature of patients with Diamond-Blackfan anemia and to explore factors affecting the height development of patients with Diamond-Blackfan anemia.
This cross-sectional study was conducted at the Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, and the height, weight, and clinical data of 129 patients with Diamond-Blackfan anemia were collected from June 2020 to September 2020.
The median height-age-z score (HAZ) of children affected by Diamond-Blackfan anemia was -1.54 (-6.36-1.96). Short stature was found in 37.98% of the patients. Specific Diamond-Blackfan anemia growth curves were developed for weight, height, and body mass index, separately for male and female patients. Multivariable logistic regression models showed that female sex (aOR 4.92; 95% CI 1.29-18.71; P = .0195), underweight (aOR 10.41, 95% CI 1.41-76.98, P = .0217), cardiovascular malformations (aOR 216.65; 95% CI 3.29-14279.79; P = .0118), and RPL11(aOR 29.14; 95% CI 1.18-719.10; P = .0392) or RPS26 (aOR 53.49; 95% CI 1.40-2044.30; P = .0323) mutations were independent risk factors for short stature. In the subgroup of patients who were steroid-dependent, patients with a duration of steroid therapy over 2 years (OR 2.95; 95% CI 1.00-8.66; P = .0494) or maintenance dose of prednisone >0.1 mg/kg per day (OR 3.30; 95% CI 1.02-10.72; P = .0470) had a higher incidence of short stature.
Patients with Diamond-Blackfan anemia had a high prevalence of short stature. The risk of short stature increased with age and was associated with sex, underweight, congenital malformations, and RPL11 or RPS26 mutations. The duration of steroid therapy and maintenance dose of steroid was significantly associated with the incidence of short stature in steroid-dependent patients with Diamond-Blackfan anemia.
系统描述 Diamond-Blackfan 贫血患者的身材矮小情况，并探讨影响 Diamond-Blackfan 贫血患者身高发育的因素。
本横断面研究在中国医学科学院血液病医院暨血液学与血液病研究所进行，收集了 2020 年 6 月至 2020 年 9 月 129 例 Diamond-Blackfan 贫血患者的身高、体重和临床数据。
受 Diamond-Blackfan 贫血影响的儿童的中位数身高年龄 Z 评分（HAZ）为-1.54（-6.36-1.96）。37.98%的患者存在身材矮小。分别为男性和女性患者制定了具体的 Diamond-Blackfan 贫血生长曲线，用于体重、身高和体重指数。多变量逻辑回归模型显示，女性（aOR 4.92；95%CI 1.29-18.71；P=0.0195）、体重不足（aOR 10.41，95%CI 1.41-76.98，P=0.0217）、心血管畸形（aOR 216.65；95%CI 3.29-14279.79；P=0.0118）和 RPL11（aOR 29.14；95%CI 1.18-719.10；P=0.0392）或 RPS26（aOR 53.49；95%CI 1.40-2044.30；P=0.0323）突变是身材矮小的独立危险因素。在依赖于激素的患者亚组中，激素治疗持续时间超过 2 年的患者（OR 2.95；95%CI 1.00-8.66；P=0.0494）或泼尼松维持剂量>0.1mg/kg/天（OR 3.30；95%CI 1.02-10.72；P=0.0470）的患者身材矮小发生率更高。
Diamond-Blackfan 贫血患者身材矮小的发生率较高。矮小的风险随年龄增长而增加，并与性别、体重不足、先天性畸形以及 RPL11 或 RPS26 突变有关。Diamond-Blackfan 贫血依赖激素的患者中，激素治疗持续时间和激素维持剂量与身材矮小的发生率显著相关。
