Phenotype Presentation of Hypophosphatemic Rickets in Adults
Phenotype Presentation of Hypophosphatemic Rickets in Adults
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DOI：
10.1007/s00223-010-9373-0
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发表时间：
2010-08-01
影响因子：
4.2
通讯作者：
Gram, Jeppe
中科院分区：
文献类型：
--
作者：
Beck-Nielsen, Signe S.;Brusgaard, Klaus;Gram, Jeppe
低磷血症佝偻病（HR）是一组罕见的疾病，引起过多的肾磷浪费。对38例HR患者进行横断面研究的目的是表征成人HR患者的表型。此外，定义了骨骼和牙髓严重性评分，以评估遗传验证的x连锁HR患者疾病严重程度的可能性别差异。与正常参考数据（即z = 0）相比，HR患者的最终身高显著降低，z评分的平均差异为-1.9 （95% CI为-2.4 ~ -1.4,P < 0.001）。与最终高度的配对z-score相比，腿长z-score显著低于坐姿高度z-score (P < 0.001)，导致坐姿高度比值显著升高，z-score平均差异为2.6 （95% CI 2.1-3.1, P < 0.001）。与正常参考数据相比，头围z-评分（中位数为1.4，范围为-0.4 ~ 5.5,P < 0.001）和腰椎骨密度z-评分（中位数为1.9，范围为-1.5 ~ 8.6,P < 0.001）显著升高。骨折的相对危险度（RR）降低（RR = 0.34, 95% CI 0.20 ~ 0.57, P < 0.001）。骨性严重度评分男性高于女性（P = 0.07），牙髓性严重度无性别差异。结论：成人HR患者以身材矮小、比例失调为特征。他们腰椎的骨密度升高，骨折的风险降低。我们发现男性比女性受影响更严重。
Hypophosphatemic rickets (HR) is a group of rare disorders caused by excessive renal phosphate wasting. The purpose of this cross-sectional study of 38 HR patients was to characterize the phenotype of adult HR patients. Moreover, skeletal and endodontic severity scores were defined to assess possible gender differences in disease severity in patients with genetically verified X-linked HR. Compared to normal reference data, i.e., z = 0, HR patients had significantly lower final height, with a mean difference in z-score of -1.9 (95% CI -2.4 to -1.4, P < 0.001). Compared to paired z-scores of final height, z-scores of leg length were significantly lower and those of sitting height were significantly higher (P < 0.001), resulting in disproportion as indicated by the significantly elevated sitting height ratio, mean difference in z-score of 2.6 (95% CI 2.1-3.1, P < 0.001). Z-scores of head circumference (median 1.4, range -0.4 to 5.5, P < 0.001) and z-scores of bone mineral density (BMD) of the lumbar spine (median 1.9, range -1.5 to 8.6, P < 0.001) were significantly elevated compared to normal reference data. The relative risk (RR) of fracture was reduced (RR = 0.34, 95% CI 0.20-0.57, P < 0.001). The skeletal severity score tended to be higher in males compared to females (P = 0.07), and no gender difference in endodontic severity was found. In conclusion, adult HR patients were characterized by short stature and were disproportioned. They had elevated BMD of the lumbar spine and a reduced risk of fractures. We found a tendency for males to be more severely affected than females.