Hospices Civils de Lyon, Nephrology, hypertension renal and functional exploration, Hôpital Edouard Herriot, 69003, Lyon, France.
Rheumatology Department, CHU Edouard-Herriot, 69003 Lyon, France.
J Clin Endocrinol Metab. 2024 Jan 18;109(2):e488-e494. doi: 10.1210/clinem/dgad608.
X-linked hypophosphatemia (XLH) is a rare genetic disorder that results in increased plasma levels of fibroblast growth factor 23 (FGF23). Several studies have demonstrated a direct association between FGF23 and cardiovascular mortality in cohorts of patients with chronic renal failure. However, in patients with XLH, studies on the cardiovascular impact of the disease are rare, with contradictory results.
The aim was to assess whether the disease led to an increased cardiovascular risk.
We conducted a single-center retrospective observational study on a local cohort of adult patients with XLH. The primary endpoint was a composite endpoint of the frequency of left ventricular hypertrophy (LVH) or presence of high blood pressure. Our secondary objectives were to assess echocardiographic, pulse wave velocity, and central blood pressure data as other markers of CV health. Independently of this cohort, tissue sodium content with magnetic resonance imaging was studied in 2 patients with XLH before and after burosumab.
Twenty-two patients were included. Median serum phosphate was 0.57 (0.47-0.72) mmol/L and FGF23 94 pg/L (58-2226). Median blood pressure was 124 (115-130)/68 (65-80) mm Hg, with only 9% of patients being hypertensive. A majority of patients (69%) had no LVH, only 1 had a left ventricular mass >100 g/m² and 25% of patients had left ventricular remodeling. Pulse wave velocity was normal in all patients. No differences in skin and muscle sodium content were observed before and after burosumab in the 2 patients who underwent sodium magnetic resonance imaging.
We found no elevated risk of developing hypertension or LVH in patients with XLH.
X 连锁低磷血症（XLH）是一种罕见的遗传性疾病，导致成纤维细胞生长因子 23（FGF23）的血浆水平升高。几项研究表明，在慢性肾衰竭患者的队列中，FGF23 与心血管死亡率之间存在直接关联。然而，在 XLH 患者中，关于该疾病对心血管影响的研究很少，且结果相互矛盾。
评估该疾病是否会导致心血管风险增加。
我们对当地 XLH 成年患者的队列进行了单中心回顾性观察性研究。主要终点是左心室肥厚（LVH）的发生频率或高血压的存在的复合终点。我们的次要目标是评估超声心动图、脉搏波速度和中心血压数据等其他心血管健康标志物。在该队列之外，我们还对 2 例 XLH 患者在接受 burosumab 治疗前后进行了磁共振成像的组织钠含量研究。
共纳入 22 例患者。血清磷酸盐中位数为 0.57（0.47-0.72）mmol/L，FGF23 为 94pg/L（58-2226）。中位数血压为 124（115-130）/68（65-80）mmHg，仅有 9%的患者患有高血压。大多数患者（69%）没有 LVH，只有 1 例患者的左心室质量>100g/m²，25%的患者有左心室重构。所有患者的脉搏波速度均正常。在接受磁共振成像钠研究的 2 例患者中，burosumab 治疗前后皮肤和肌肉钠含量没有差异。
我们发现 XLH 患者发生高血压或 LVH 的风险没有增加。
