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Updated: Jun 6, 2025

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在患有先天性和类固醇耐药性脏综合征的儿科患者中NPHS突变

Jun Xin Lee1, Yan Jin Tan2, Noor Akmal Shareela Ismail2

  • 1Department of Pediatrics, Faculty of Medicine, Universiti Kebangsaan Malaysia, Cheras, Kuala Lumpur 56000, Malaysia.

International journal of molecular sciences
|November 27, 2024
PubMed
概括

儿科性综合征中NPHS1和NPHS2基因的基因突变很常见,分别影响15%和11%的患者. 建议对NPHS突变进行早期查,以指导诊断和治疗.

关键词:
这是一个NPHS1NPHS1.在NPHS2中,NPHS2是NPHS2.遗传性性综合征 (CNS) 是一种先天性性综合征.最终阶段的功能衰竭.儿科 儿科 儿科类固醇耐药性性综合征

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