XLH 兒童患者的臨床症狀表現

XLH 會造成終生骨骼疾病,並可能大幅降低身體功能和生活品質1

XLH 通常會在出生後 2 年內出現,並發生漸進性下肢彎曲或膝外翻,開始承受體重後出現生長遲緩,以及特有的佝僂病臨床表徵。同時也可能觀察到疼痛、步態障礙和整體運動功能降低。2,3

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