[两例1型丹特病,具有巴特特类型的表型和文献综述]
1Department of Endocrinology, Genetics and Metabolism, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China.
Zhonghua yi xue za zhi
|August 28, 2024
概括
1型男孩的丹特病可以模仿巴特特综合征,呈现低分子量蛋白尿,矮身和低度血. 非类固醇抗炎药物有助于控制低血,但慢性病可能会发展.
科学领域:
- 腎臟病學 (nephrology) 是一種醫學.
- 儿科内分泌学 儿科内分泌学
- 医学遗传学 医学遗传学
背景情况:
- 丹特病1型是一种罕见的遗传性疾病,影响脏.
- 一个类似巴特的表型,以低血和代谢性病为特征,可以发生在丹特病中.
- 了解这种重叠对于小儿病患者的准确诊断和管理至关重要.
研究的目的:
- 分析1型丹特病和巴特特类型表型的男孩的临床表现,治疗和结果.
- 从现有文献中,审查和总结1型丹特病和低血量/代谢性疾病的儿科患者的共同特征.
主要方法:
- 对两名患有1型丹特病和巴特特类型表型的男孩进行了回顾性分析.
- 使用PubMed,CNKI和万芳数据库对1型丹特病,低血糖和代谢性疾病的儿科病例进行系统文献综述.
- 通过文献综述总结了常见的临床和遗传特征.
主要成果:
- 分析了9名儿科患者 (全部是男性),所有患者都表现出低分子量蛋白尿和高尿.
- 常见的表型包括矮身 (7/8),低血症 (8/9) 和恶心病 (6/8).
- 两名患者患有新的CLCN5基因突变;五名患者通过化和NSAIDs (ibuprofen/indomethacin) 治疗低血清症. 两名患者进展到CKD第3期和第4期.
结论:
- 1型 丹特病可以呈现出显著的巴特特类型表型,以低分子量蛋白尿为特征.
- 在这些患者中,身材矮小,低血症和病是普遍存在的.
- 无抗炎药物对低血清症的治疗有效,需要定期监测功能,因为潜在的CKD进展.
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