Antonowicz Agnieszka, Lipiński Patryk, Popow Michał, Skrzypczyk Piotr
Department of Pediatrics and Nephrology, Medical University of Warsaw, 02-091 Warsaw, Poland.
Institute of Clinical Sciences, Maria Skłodowska-Curie Medical Academy, 00-136 Warsaw, Poland.
Biomolecules. 2025 Sep 15;15(9):1321. doi: 10.3390/biom15091321.
Hypophosphatemia is a rare ion disorder in children, but it carries the risk of serious clinical sequelae in tissues and organs with high energy requirements, such as bone tissue. This article discusses the metabolism of phosphate in the body, the clinical manifestations of hypophosphatemia, and the diagnostic tests necessary in patients with this disorder. Extra-renal causes are analyzed, and renal forms of hypophosphatemia are discussed in detail. Renal hypophosphatemia, depending on the mechanism, is divided into PTH-dependent (e.g., primary hyperparathyroidism), FGF23-dependent (e.g., X-linked hypophosphatemia), and intrinsic renal hypophosphatemia (e.g., Fanconi syndrome). The treatment of hypophosphatemia involves compensating for phosphate deficiency, often simultaneously with the supply of an active form of vitamin D. Always seek causal treatment, such as parathyroidectomy in primary hyperparathyroidism. In the FGF-23-dependent forms of X-linked hypophosphatemia and tumor-induced osteomalacia, burosumab has proven to be an effective and safe drug. a child with hypophosphatemia requires a multidisciplinary approach and determination of the mechanism of phosphate deficiency in the body.
低磷血症在儿童中是一种罕见的离子紊乱，但在能量需求高的组织和器官（如骨组织）中存在严重临床后遗症的风险。本文讨论了体内磷的代谢、低磷血症的临床表现以及该疾病患者所需的诊断测试。分析了肾外病因，并详细讨论了低磷血症的肾脏形式。根据机制，肾性低磷血症分为甲状旁腺激素依赖性（如原发性甲状旁腺功能亢进）、成纤维细胞生长因子23依赖性（如X连锁低磷血症）和原发性肾性低磷血症（如范科尼综合征）。低磷血症的治疗包括补充磷缺乏，通常同时补充活性形式的维生素D。始终寻求病因治疗，如原发性甲状旁腺功能亢进的甲状旁腺切除术。在X连锁低磷血症和成纤维细胞生长因子23依赖性的肿瘤性骨软化症中，布罗索尤单抗已被证明是一种有效且安全的药物。患有低磷血症的儿童需要多学科方法，并确定体内磷缺乏的机制。
