1例Dent病患者临床特征及治疗文献复习
Review of clinical features and treatment literature of a Dent patient
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| DOI |
10.12208/j.ijped.20240002 |
| 刊名 |
International Journal of Pediatrics Research
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| 年，卷(期) |
2024, 4(1) |
| 作者 |
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| 作者单位 |
湖南省娄底市中心医院 湖南娄底 ;
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| 摘要 |
通过报道一例Dent病病例并进行文献复习。提高对Dent病临床认识。方法 收集一例Dent病临床病例，进一步阐述并探析此疾病临床特点，并针对检查结果进行说明，随后展开相关的文献复习。结果 临床资料Dent病[1]临床表现为低分子蛋白尿以及肾结石、肾脏钙化，布病病因不明，具有家族遗传倾向，主要发生是与基因突变相关的，继而引起物质转运异常，肾小管重吸收低分子功能障碍的时候，使得蛋白质丢失情况出现。结论 同时基因CLCN5、OCRL1基因突变的发生，使得钙离子转运异常，当维生素D代谢紊乱的时候，使得肾小管、钙功能吸收出现障碍，除此之外，饮食和环境发病具有一定关系[2-3]。
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| Abstract |
Objective To report a case of Dent disease and review the literature. To improve the clinical understanding of Dent disease. Methods A clinical case of Dent disease was collected, the clinical features of DENT disease were further described and analyzed, and the relevant literature was reviewed. Results Clinical data Dent disease [1] is clinically manifested as low molecular weight proteinuria, kidney stones and kidney calcification. The etiology of DENT disease is unknown, and the disease has a familial genetic tendency. It is mainly related to gene mutation, which causes material transport abnormalities, and protein loss occurs when renal tubules reabsorb low molecular weight dysfunction. Conclusion At the same time, the mutation of CLCN5 and OCRL1 genes causes abnormal calcium ion transport, and when vitamin D metabolism is disturbed, the renal tubules and calcium function absorption are impaired. In addition, diet and environmental disease have a certain relationship [2-3].
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| 关键词 |
Dent病；肾脏钙化；家族遗传倾向；基因突变
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| KeyWord |
Dent disease; Kidney calcification; Family genetic tendency; Gene mutation
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| 基金项目 |
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| 页码 |
7-10 |
梁娴*.
1例Dent病患者临床特征及治疗文献复习 [J].
国际儿科研究杂志.
2024; 4; (1).
7 - 10.