低血磷性佝偻病的遗传分型及研究进展
Genetic Classification and Research Progress of Hypophosphatemic Rickets
DOI: 10.12677/acm.2026.162648, PDF,   
作者: 刘金陵：重庆医科大学附属儿童医院内分泌科，重庆；国家儿童健康与疾病临床医学研究中心，重庆；儿童发育疾病研究教育部重点实验室，重庆；儿童发育重大疾病国家国际科技合作基地，重庆；儿童代谢与炎症性疾病重庆市重点实验室，重庆；资中县人民医院儿科，四川 内江；罗雁红*：重庆医科大学附属儿童医院内分泌科，重庆；国家儿童健康与疾病临床医学研究中心，重庆；儿童发育疾病研究教育部重点实验室，重庆；儿童发育重大疾病国家国际科技合作基地，重庆；儿童代谢与炎症性疾病重庆市重点实验室，重庆
关键词: 低血磷性佝偻病；遗传分型；FGF23；研究进展；Hypophosphatemic Rickets； Genetic Classification； FGF23； Research Progress
摘要: 低血磷性佝偻病作为一类遗传性骨代谢疾病，是遗传性骨代谢病领域研究的重点课题之一，其也被称作“家族性低磷血症或肾性低血磷性佝偻病”，以低血磷、骨矿化不良、骨骼畸形等为主要表现。近年来，随着基因组学和分子生物学技术的发展，针对该病遗传机制、分型及其临床表现的研究取得了一定进展，为后续治疗提供了全新思路。鉴于此，本文就低血磷性佝偻病的遗传分型及研究进展进行分析，探讨了相关基因突变、发病机制以及未来治疗策略，以期为临床相关工作的开展提供参考。
Abstract: Hypophosphatemic rickets, as a type of hereditary bone metabolic disease, is one of the key re-search topics in the field of hereditary bone metabolic diseases. Also referred to as “familial hypo-phosphatemia or renal hypophosphatemic rickets”, it is mainly characterized by hypophos-phatemia, impaired bone mineralization, skeletal deformities, and other manifestations. In recent years, with advancements in genomics and molecular biology, research on the genetic mechanisms, classification, and clinical manifestations of this disease has made certain progress, providing new insights for subsequent treatment. In light of this, this paper analyzes the genetic classification and research progress of hypophosphatemic rickets and explores related gene mutations, pathogenesis, and future treatment strategies, aiming to provide references for clinical practice.
文章引用：刘金陵, 罗雁红. 低血磷性佝偻病的遗传分型及研究进展[J]. 临床医学进展, 2026, 16(2): 2437-2444. https://doi.org/10.12677/acm.2026.162648

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