Abstract：
BACKGROUND: X-linked hypophosphatemia (XLH) represents the most prevalent cause of hereditary hypophosphatemia. X-linked hypophosphatemia causes an elevation of fibroblast growth factor 23 (FGF23), a hormone responsible for inducing hyperphosphaturia, and reduced active vitamin D synthesis. Challenges in diagnosis and the absence of well-defined clinical guidelines have resulted in higher rates of late diagnoses. While numerous reports focus on pediatric X-linked hypophosphatemia patients, studies in adults are limited.
METHODS: Multicenter, cross-sectional, observational study of a cohort of adult patients diagnosed with X-linked hypophosphatemia. The study identified demographic, clinical, genetic, laboratory variables, treatments used, comorbidities, and complications.
RESULTS: Twenty patients diagnosed with X-linked hypophosphatemia were collected. The median age at diagnosis was 11 (1-56) years and at data collection was 44 (21-68) years. Fifty percent of cases were diagnosed in adulthood. Main clinical manifestation was osteoarticular pain, in 75% of cases, and no relation to age at diagnosis, height, phosphorus, or parathyroid hormone (PTH) levels was observed (p > 0.05). Lower limb deformities were associated with reduced stature and earlier diagnosis (p < 0.05). Sixty percent of patients reported pain requiring chronic medication and no significant correlation was found with other variables. Anxiety and depression were found in an important number of patients. FGF23 levels were not related to any of the clinical variables studied (p > 0.05).
CONCLUSIONS: This is the largest study on adult patients with X-linked hypophosphatemia in southern Europe. It may offer valuable insights into the natural progression and course of the condition in adults, which can aid in better clinical management.
METHODS: Multicenter, cross-sectional, observational study of a cohort of adult patients diagnosed with X-linked hypophosphatemia. The study identified demographic, clinical, genetic, laboratory variables, treatments used, comorbidities, and complications.
RESULTS: Twenty patients diagnosed with X-linked hypophosphatemia were collected. The median age at diagnosis was 11 (1-56) years and at data collection was 44 (21-68) years. Fifty percent of cases were diagnosed in adulthood. Main clinical manifestation was osteoarticular pain, in 75% of cases, and no relation to age at diagnosis, height, phosphorus, or parathyroid hormone (PTH) levels was observed (p > 0.05). Lower limb deformities were associated with reduced stature and earlier diagnosis (p < 0.05). Sixty percent of patients reported pain requiring chronic medication and no significant correlation was found with other variables. Anxiety and depression were found in an important number of patients. FGF23 levels were not related to any of the clinical variables studied (p > 0.05).
CONCLUSIONS: This is the largest study on adult patients with X-linked hypophosphatemia in southern Europe. It may offer valuable insights into the natural progression and course of the condition in adults, which can aid in better clinical management.
摘要：
背景：X连锁低磷酸盐血症（XLH）是遗传性低磷酸盐血症的最常见原因。X连锁低磷酸盐血症导致成纤维细胞生长因子23（FGF23）升高，一种导致高磷尿的激素，和减少活性维生素D合成。诊断方面的挑战和缺乏明确的临床指南导致了更高的晚期诊断率。虽然许多报告集中在儿科X连锁低磷酸盐血症患者，对成年人的研究是有限的。
方法：多中心，横截面,对诊断为X连锁低磷酸盐血症的成年患者队列的观察性研究。这项研究确定了人口统计，临床,遗传,实验室变量，使用的治疗方法，合并症,和并发症。
结果：收集20例X连锁低磷血症患者。诊断时的中位年龄为11（1-56）岁，数据收集时为44（21-68）岁。50%的病例是在成年期被诊断出来的。主要临床表现为骨关节疼痛,在75%的案例中,与诊断时的年龄无关，高度,磷，或甲状旁腺激素（PTH）水平观察（p>0.05）。下肢畸形与身材矮小和早期诊断有关（p<0.05）。60％的患者报告需要慢性药物治疗的疼痛，与其他变量没有发现显着相关性。在许多患者中发现了焦虑和抑郁。FGF23水平与所研究的任何临床变量无关(p>0.05)。
结论：这是南欧最大的X连锁低磷酸盐血症成年患者研究。它可以提供对成人病情的自然发展和过程的有价值的见解，这可以帮助更好的临床管理。
方法：多中心，横截面,对诊断为X连锁低磷酸盐血症的成年患者队列的观察性研究。这项研究确定了人口统计，临床,遗传,实验室变量，使用的治疗方法，合并症,和并发症。
结果：收集20例X连锁低磷血症患者。诊断时的中位年龄为11（1-56）岁，数据收集时为44（21-68）岁。50%的病例是在成年期被诊断出来的。主要临床表现为骨关节疼痛,在75%的案例中,与诊断时的年龄无关，高度,磷，或甲状旁腺激素（PTH）水平观察（p>0.05）。下肢畸形与身材矮小和早期诊断有关（p<0.05）。60％的患者报告需要慢性药物治疗的疼痛，与其他变量没有发现显着相关性。在许多患者中发现了焦虑和抑郁。FGF23水平与所研究的任何临床变量无关(p>0.05)。
结论：这是南欧最大的X连锁低磷酸盐血症成年患者研究。它可以提供对成人病情的自然发展和过程的有价值的见解，这可以帮助更好的临床管理。
