Atkinson Emily C, Thiara Diana, Tamura Deborah, DiGiovanna John J, Kraemer Kenneth H, Hadigan Colleen
*Laboratory of Immunoregulation, National Institute of Allergy and Infectious Diseases †DNA Repair Section, Dermatology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD.
J Pediatr Gastroenterol Nutr. 2014 Oct;59(4):458-64. doi: 10.1097/MPG.0000000000000458.
Trichothiodystrophy (TTD) is a rare autosomal recessive disorder of DNA repair and transcription. Patients have multisystem abnormalities, including alterations in growth and development. This report characterizes the growth and nutritional status of a cohort of children with TTD.
Twenty-five patients with TTD were evaluated through a natural history study of patients with DNA repair diseases at the National Institutes of Health. Mean length of follow-up was 2.7 years. Retrospective and prospective data on nutritional status and height/weight were collected.
In general, patients with TTD had considerable abnormalities in growth, with a mean height-for-age z score of -2.75 and a mean weight-for-age z score of -2.60 at baseline clinical evaluation. The median weight-for-length at baseline was, however, 50th percentile and indicators of adequate nutrition such as serum albumin, hemoglobin, and vitamins D and B12 were largely within normal limits. Changes in growth parameters as children aged were characterized by further separation from standard growth curves (change height-for-age z score/year [-0.18 ± 0.42] and weight-for-age z score/year [-0.36 ± 0.51]). Patients who died during follow-up (n = 5) had significantly lower standardized height (P = 0.03) and weight (P = 0.006), weight-for-length (<0.0001), and higher heart rates (P = 0.02) compared with the remainder of the cohort.
Children with TTD have markedly diminished weight-for-age and height-for-age relative to reference populations. The cause for this stunted growth remains unclear but does not appear to be related to poor nutrient absorption or malnutrition.
毛发硫营养不良（TTD）是一种罕见的常染色体隐性DNA修复和转录障碍疾病。患者存在多系统异常，包括生长发育改变。本报告描述了一组TTD患儿的生长和营养状况。
通过美国国立卫生研究院对DNA修复疾病患者的自然史研究，对25例TTD患者进行了评估。平均随访时间为2.7年。收集了关于营养状况以及身高/体重的回顾性和前瞻性数据。
总体而言，TTD患者生长存在相当大的异常，在基线临床评估时，年龄别身高的平均z评分为-2.75，年龄别体重的平均z评分为-2.60。然而，基线时身长别体重中位数处于第50百分位数，血清白蛋白、血红蛋白以及维生素D和B12等营养充足指标大多在正常范围内。随着儿童年龄增长，生长参数变化的特征是与标准生长曲线的差距进一步加大（年龄别身高z评分/年变化[-0.18±0.42]，年龄别体重z评分/年变化[-0.36±0.51]）。随访期间死亡的患者（n = 5）与队列中的其余患者相比，标准化身高（P = 0.03）和体重（P = 0.006）、身长别体重（<0.0001）显著更低，心率更高（P = 0.02）。
与参考人群相比，TTD患儿的年龄别体重和年龄别身高明显降低。这种生长发育迟缓的原因尚不清楚，但似乎与营养吸收不良或营养不良无关。
