目的:特纳综合征(TS)的淋巴水肿(LD)是一种常见的合并症,尽管它与核型和其他合并症的关联知之甚少。TS和LD患者的特点,包括与表型和核型的相关性,被描述。
方法:回顾性回顾了2002年至2020年在两个儿科机构中看到的TS患者的病历。人口统计数据(年龄,演示开始,临床特征,遗传学,LD存在,调查,处理)被收集。
结果:确定了393名患有TS的女孩,平均年龄为12.5岁(SD:5.7)。在37%的患者(n=146)中发现了LD。在112例TS和LD发病记录的患者中,在生命的第一年内发现了LD,占78.6%(n=88)。TS和LD患者中有67.6%(n=96)具有非马赛克45,X核型。与没有LD的女孩相比,患有TS和LD的女孩的网状颈部频率明显更高(58vs.7%,p<0.001)。先天性心脏异常,高血压,肾脏异常在患有LD的女孩中也更常见。存在发育不良或发育不良的指甲异常与LD显着相关(OR:6.784,95%CI4.235-11.046)。报告有LD的女孩人数随年龄增长而减少。
结论:TS中的LD通常发生在生命的第一年,在年龄较大的儿童和青少年中不那么普遍,与45,X核型显著相关,有网状脖子,指甲的变化,先天性心脏异常,和肾脏异常.
OBJECTIVE: Lymphedema (LD) in Turner syndrome (TS) is a commonly reported comorbidity, though its associations with karyotype and other comorbidities are poorly understood. Characteristics of patients with TS and LD, including correlation with phenotype and karyotype, are described.
METHODS: Medical records of patients with TS seen in two pediatric institutions from 2002 to 2020 were retrospectively reviewed. Demographic data (age, presentation onset, clinical features, genetics, LD presence, investigations, treatments) were collected.
RESULTS: 393 girls with TS with mean age of 12.5 years (SD: 5.7) were identified. LD was noted in 37 % of patients (n=146). Among the 112 patients with TS and documentation of onset of LD, LD was noted within the first year of life in 78.6 % (n=88). 67.6 % (n=96) of total patients with TS and LD had non-mosaic 45, X karyotype. Frequency of webbed neck was significantly greater in girls with TS and LD compared with girls without LD (58 vs. 7 %, p<0.001). Congenital heart anomalies, hypertension, and renal anomalies were also more common in girls with LD. Nail abnormalities with presence of hypoplastic or dysplastic nails were significantly associated with LD (OR: 6.784, 95 % CI 4.235-11.046). The number of girls reporting presence of LD decreased with age.
CONCLUSIONS: LD in TS often occurs within the first year of life, is less prevalent in older children and adolescents, and is significantly associated with 45, X karyotype, presence of webbed neck, nail changes, congenital heart anomalies, and renal anomalies.