与NPHP1同胞性全基因缺失相关的多种视网膜-表型在患有功能衰竭的患者中
Gavin Esson1, Ian Logan1, Katrina Wood2
1Renal Services, The Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK.
Journal of rare diseases (Berlin, Germany)
|March 4, 2024
概括
基因检测确定了两名患有无法解释的功能衰竭和视网膜表型的患者的1型Senior-Løken综合征. 早期遗传诊断可以改善罕见病的管理和家庭风险评估.
科学领域:
- 腎臟病學 (nephrology) 是一種醫學專業.
- 医学遗传学 医学遗传学
- 眼科医生 眼科 眼科
背景情况:
- 不明原因的功能衰竭影响了透析和移植诊所中15-20%的患者.
- 单一的原因约占未解释的功能衰竭病例的10%.
- 外表现可以指导病的遗传诊断.
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