登特氏病:来自一个中心的系列病例。

Hilal Yaşar, Emre Leventoğlu, Bahar Büyükkaragöz, Kibriya Fidan, Sevcan A Bakkaloğlu, Oğuz Söylemezoğlu
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引用次数: 0

摘要

背景:登特氏病(DD)是一种罕见的X连锁隐性肾小管疾病,以低分子量蛋白尿、高钙尿症、肾钙化症/肾结石和慢性肾病为特征。通过这篇手稿,我们报告了过去 10 年中我科确诊为 DD 的 3 例患者,并由此描述了该病的遗传学、病理生理学、临床表现、病程和治疗方法:第一个病例是一名男性新生儿,因发现髓样肾钙化而到我科就诊。第二个病例是一名 4 岁的男孩,在接受治疗时被诊断为尿路感染,但发现有蛋白尿。最后一个病例是一名 11 个月大的男婴,因反复尿路感染接受随访,肾集合系统中出现毫米级结晶体。所有病例均出现蛋白尿和高钙尿症。前两个病例的 CLCN5 基因出现变异(分别为 c.1852G>A 和 c.1557+1G>T),最后一个病例的 OCRL 基因出现变异(c.952C>T)。建议所有患者口服水合药物和低盐饮食,并开始服用氢氯噻嗪和依那普利。所有患者的肾功能均未出现恶化:结论:DD 是一种即使在相同基因突变的个体中也会表现出不同表型的疾病。因此,所有伴有或不伴有近端肾小管功能障碍的高钙尿症、蛋白尿、肾结石或肾钙化症患者,尤其是儿童早期患者,都应考虑到这种疾病。应采用治疗高钙尿症的传统方法,尤其是针对蛋白尿的治疗,应根据患者的具体情况制定治疗方案。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Dent's disease: case series from a single center.

Background: Dent's disease (DD) is a rare X-linked recessive tubulopathy characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis/nephrolithiasis and chronic kidney disease. With this manuscript, we reported three patients diagnosed as DD in our department in the last 10 years and thereby described the genetics, pathophysiology, clinical presentation, course and management of the disease.

Cases: The first case was a male newborn who was consulted to our department after medullary nephrocalcinosis was detected. The second case was a 4-year-old boy who was treated with a diagnosis of urinary tract infection but was found to have proteinuria. Our last case was an 11-month-old male infant who was being followed up for recurrent urinary tract infection and who had millimetric crystalloids in the renal collecting system. Proteinuria and hypercalciuria were present in all cases. Variants were observed in the CLCN5 gene for the first two cases (c.1852G>A and c.1557+1G>T, respectively) and OCRL gene (c.952C>T) for the last case. All patients were recommended oral hydration and a low-salt diet, and hydrochlorothiazide and enalapril were started. No deterioration in kidney function was observed in any patient.

Conclusion: DD is a disease that shows different phenotypes even among individuals with mutations in the same gene. Therefore, it should be considered in all patients with hypercalciuria, proteinuria, nephrolithiasis or nephrocalcinosis with/without proximal tubular dysfunction especially in the early childhood period. Classical treatments for hypercalciuria should be utilized, and a patient-based treatment plan should be drawn especially for proteinuria.

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