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在患有囊性纤维化症的患者中,复发性症状性尿病
Sibel Yel1, Ismail Dursun2, Mehmet Köse3
1Department of Pediatric Nephrology, Erciyes University Medical Faculty, Kayseri, Turkey. drsibelyel@gmail.com.
Pediatric nephrology (Berlin, Germany)
|June 25, 2024
概括
一个患有囊性纤维化 (CF) 的孩子出现了复发性结石. 基因检测显示了1型原发性高氧化尿症,这是一种罕见的遗传疾病,与CF一起.
科学领域:
- 儿科脏病学 儿科脏病学
- 医学遗传学 医学遗传学
- 罕见疾病 罕见疾病
背景情况:
- 囊性纤维化 (CF) 是一种影响多个器官的遗传性疾病.
- 结石 (结石) 可能是CF患者的并发症.
- 血缘关系增加了罕见遗传疾病的风险.
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