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Abstract：
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.
摘要：
X连锁低磷酸盐血症（XLH）是慢性低磷酸盐血症最常见的单基因病因，其特征是病和骨软化症。荷兰的XLH患者的疾病表现和治疗目前尚不清楚。分析了参与荷兰遗传性低磷酸盐血症和获得性肾磷酸盐消耗的XLH患者的特征。80名XLH患者，包括29个孩子,包括在内。基因检测,78.8%的患者进行了手术，显示96.8%的PHEX突变。成人身高的中位数（范围）Z评分为-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。所有儿童都接受了与XLH相关的药物治疗，例如，活性维生素D,磷酸盐补充剂或burosumab，8名成年人没有使用药物。XLH相关治疗开始时年龄较低与纳入时身高较高相关。据报道，6.9%的儿童和31.4%的成年人有听力损失。所有患者中有75.0％的膝关节畸形，成年患者中有51.0％的骨关节炎。在62.1％的儿童和33.3％的成年人中观察到肾钙化病。XLH相关治疗的早期开始与肾钙质沉着症的高风险相关，并在年轻时检测到。据报道，37.9%的儿童和35.3%的成人甲状旁腺功能亢进超过6个月。这项全国性的研究证实了肥胖的高患病率，听力损失,骨畸形，骨关节炎,荷兰XLH患者的肾钙化和甲状旁腺功能亢进。早期开始XLH相关治疗似乎有利于纵向生长，但可能会增加肾钙化病的发展。
