磷酸盐转运障碍中的表型变异性凸显了个性化治疗策略的必要性。
Phenotypic variability in phosphate transport disorders highlights need for individualized treatment strategies.
作者信息
Zhu Zewu, Bergwitz Clemens
机构信息
Section of Endocrinology, Department of Internal Medicine, Yale University School of Medicine, New Haven, Connecticut, USA; Department of Urology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Section of Endocrinology, Department of Internal Medicine, Yale University School of Medicine, New Haven, Connecticut, USA.
出版信息
Kidney Int. 2025 Jan;107(1):12-15. doi: 10.1016/j.kint.2024.10.020.
Pathogenic variants in the SLC34A1 and SLC34A3 genes, encoding sodium-phosphate cotransporters 2a (NPT2a) and 2c (NPT2c), are linked to rare phosphate-wasting disorders. In this issue, Brunkhorst et al. explore the clinical presentations, biochemical profiles, and treatment outcomes associated with these genetic variants in 113 individuals. The study highlights distinct phenotypes, potential treatment challenges, and the need for further research to optimize therapeutic strategies and understand long-term outcomes for affected individuals.
编码钠-磷酸盐共转运蛋白2a（NPT2a）和2c（NPT2c）的SLC34A1和SLC34A3基因中的致病性变异与罕见的磷酸盐消耗性疾病有关。在本期中，布伦克霍斯特等人探讨了113名个体中与这些基因变异相关的临床表现、生化特征和治疗结果。该研究突出了不同的表型、潜在的治疗挑战，以及进一步开展研究以优化治疗策略并了解受影响个体长期预后的必要性。
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