Department of Nephrology, Consorci Hospital General Universitari de València, Av. de Les Tres Creus, 2, 46014, València, Spain.
Department of Nephrology and Renal Transplantation, Hospital Clínic of Barcelona, Barcelona, Spain.
J Nephrol. 2024 Jun;37(5):1251-1260. doi: 10.1007/s40620-024-01962-3. Epub 2024 Jun 5.
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.
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.
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).
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.
X 连锁低磷血症（XLH）是遗传性低磷血症最常见的原因。X 连锁低磷血症会导致成纤维细胞生长因子 23（FGF23）升高，这种激素负责诱导高磷尿症，并减少活性维生素 D 的合成。诊断方面的挑战以及缺乏明确的临床指南导致了更高的迟诊率。虽然有许多报告侧重于儿科 XLH 患者，但成人研究有限。
对一组确诊为 X 连锁低磷血症的成年患者进行多中心、横断面、观察性研究。该研究确定了人口统计学、临床、遗传、实验室变量、使用的治疗方法、合并症和并发症。
共收集了 20 例确诊为 X 连锁低磷血症的患者。诊断时的中位年龄为 11 岁（1-56 岁），数据采集时的中位年龄为 44 岁（21-68 岁）。50%的病例在成年期确诊。主要临床表现为骨关节炎疼痛，占 75%，且与诊断时的年龄、身高、磷或甲状旁腺激素（PTH）水平无关（p>0.05）。下肢畸形与身材矮小和较早诊断有关（p<0.05）。60%的患者报告有需要慢性药物治疗的疼痛，但与其他变量无显著相关性。相当数量的患者存在焦虑和抑郁。FGF23 水平与研究的任何临床变量均无关（p>0.05）。
这是欧洲南部最大的一组 XLH 成年患者研究。它可能为成人疾病的自然进程和病程提供有价值的见解，有助于更好的临床管理。
