X-linked hypophosphatemia (XLH) is the most common monogenetic cause of chronic hypophosphatemia, characterized by rickets and osteomalacia. Disease manifestations and treatment of XLH patients in the Netherlands are currently unknown. Characteristics of XLH patients participating in the Dutch observational registry for genetic hypophosphatemia and acquired renal phosphate wasting were analyzed. Eighty XLH patients, including 29 children, were included. Genetic testing, performed in 78.8% of patients, showed a PHEX mutation in 96.8%. Median (range) Z-score for height was − 2.5 (− 5.5; 1.0) in adults and − 1.4 (− 3.7; 1.0) in children. Many patients were overweight or obese: 64.3% of adults and 37.0% of children. All children received XLH-related medication e.g., active vitamin D, phosphate supplementation or burosumab, while 8 adults used no medication. Lower age at start of XLH-related treatment was associated with higher height at inclusion. Hearing loss was reported in 6.9% of children and 31.4% of adults. Knee deformities were observed in 75.0% of all patients and osteoarthritis in 51.0% of adult patients. Nephrocalcinosis was observed in 62.1% of children and 33.3% of adults. Earlier start of XLH-related treatment was associated with higher risk of nephrocalcinosis and detection at younger age. Hyperparathyroidism longer than six months was reported in 37.9% of children and 35.3% of adults. This nationwide study confirms the high prevalence of adiposity, hearing loss, bone deformities, osteoarthritis, nephrocalcinosis and hyperparathyroidism in Dutch XLH patients. Early start of XLH-related treatment appears to be beneficial for longitudinal growth but may increase development of nephrocalcinosis.

X连锁低磷血症（XLH）是慢性低磷血症最常见的单基因原因，其特征是佝偻病和骨软化症。荷兰 XLH 患者的疾病表现和治疗目前尚不清楚。对参与荷兰遗传性低磷血症和获得性肾磷酸盐消耗观察登记的 XLH 患者的特征进行了分析。80 名 XLH 患者被纳入其中，其中包括 29 名儿童。对 78.8% 的患者进行的基因检测显示96.8% 的患者存在PHEX突变。成人身高 Z 得分中位数（范围）为 − 2.5（− 5.5；1.0），儿童为 − 1.4（− 3.7；1.0）。许多患者超重或肥胖：64.3% 的成人和 37.0% 的儿童。所有儿童均接受 XLH 相关药物治疗，例如活性维生素 D、磷酸盐补充剂或 burosumab，而 8 名成人未使用任何药物。XLH 相关治疗开始时的较低年龄与纳入时的较高身高相关。6.9% 的儿童和 31.4% 的成人有听力损失。75.0% 的患者出现膝关节畸形，51.0% 的成年患者出现骨关节炎。62.1% 的儿童和 33.3% 的成人出现肾钙质沉着症。较早开始 XLH 相关治疗与较高的肾钙质沉着症风险和较年轻的检测相关。据报道，37.9% 的儿童和 35.3% 的成人患有超过六个月的甲状旁腺功能亢进症。这项全国性研究证实，荷兰 XLH 患者肥胖、听力损失、骨骼畸形、骨关节炎、肾钙质沉着症和甲状旁腺功能亢进症的患病率很高。早期开始 XLH 相关治疗似乎有利于纵向生长，但可能会增加肾钙质沉着症的发生。