Dent Disease 1 Presented Early with Bartter-Like Syndrome Features and Rickets: A Case Report.

IF 0.9 Q4 UROLOGY & NEPHROLOGY
Case Reports in Nephrology and Dialysis Pub Date : 2025-01-21 eCollection Date: 2025-01-01 DOI:10.1159/000543719
Cahyani Gita Ambarsari, Habibah Azzahra Putri Agianda, Meilania Saraswati, Jon Jin Kim
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引用次数: 0

Abstract

Introduction: Dent disease (DD) is characterized by a triad of low-molecular-weight proteinuria, hypercalciuria, and nephrocalcinosis/nephrolithiasis. However, some cases were confounded by other clinical symptoms and signs, namely, hypokalemia and rickets, which resulted in misleading diagnoses. A diagnosis of DD could be delayed even in high-resource countries due to its variability of phenotypes and rarity, causing a lack of awareness in both medical practitioners and parents. Moreover, in low-resource countries, laboratory test limitations can hinder the diagnosis.

Case presentation: A thirteen-year-old boy presented with an acute episode of severe hypokalemia following vomiting due to COVID medication side effects. He had lower extremities weakness, salt craving, and polydipsia since childhood which were not thought to be unusual by the parents. He had a history of intrauterine polyhydramnios and maternal miscarriages. A physical examination showed hypotension, short stature, and genu valgum. His laboratory workup displayed hypokalemic metabolic alkalosis and increased urine potassium, chloride, transtubular potassium gradient, and calcium/creatinine ratio. He also had hypophosphatemia, hypomagnesemia, and decreased kidney function. Severe osteopenia was prominent on radiologic examination of all extremities. Subsequent laboratory samples sent overseas revealed low-molecular-weight proteinuria and a pathogenic variant in the CLCN5 gene confirming X-linked DD 1.

Conclusion: This case report highlights the importance of considering DD in differential diagnoses of children with the pseudo-Bartter syndrome, that is, renal salt and potassium wasting, with or without hypercalciuria and nephrocalcinosis. Additionally, in children with rickets and proteinuria, urinary low-molecular-weight protein measurement could assist in screening for the possibility of DD, particularly in low-resource settings.

凹痕病1早期表现为易货样综合征特征和佝偻病1例报告。
简介:凹痕病(DD)的特征是低分子蛋白尿、高钙尿和肾钙质沉着症/肾结石。然而,一些病例与其他临床症状和体征混淆,即低钾血症和佝偻病,从而导致误导诊断。即使在资源丰富的国家,由于DD的表型变异和罕见性,诊断也可能被推迟,导致医生和父母缺乏认识。此外,在资源匮乏的国家,实验室检测的限制可能阻碍诊断。病例介绍:一名13岁男孩因COVID药物副作用导致呕吐后出现严重低钾血症急性发作。他从小就有下肢无力、爱吃盐、渴渴等症状,父母并不认为这是不寻常的。他有宫内羊水过多和产妇流产史。体格检查显示低血压,身材矮小,膝外翻。他的实验室检查显示低钾代谢性碱中毒,尿钾、氯化物、经短突钾梯度和钙/肌酐比值升高。他还患有低磷血症、低镁血症和肾功能下降。四肢放射学检查显示严重骨质减少。随后送往海外的实验室样本显示低分子量蛋白尿和CLCN5基因的致病性变异,证实了x连锁DD 1。结论:本病例报告强调了在儿童伪bartter综合征(即肾脏盐钾消耗,伴或不伴高钙尿症和肾钙质沉着症)鉴别诊断中考虑DD的重要性。此外,在患有佝偻病和蛋白尿的儿童中,尿液低分子量蛋白测量可以帮助筛查DD的可能性,特别是在资源匮乏的环境中。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
CiteScore
1.20
自引率
0.00%
发文量
36
审稿时长
10 weeks
期刊介绍: This peer-reviewed online-only journal publishes original case reports covering the entire spectrum of nephrology and dialysis, including genetic susceptibility, clinical presentation, diagnosis, treatment or prevention, toxicities of therapy, critical care, supportive care, quality-of-life and survival issues. The journal will also accept case reports dealing with the use of novel technologies, both in the arena of diagnosis and treatment. Supplementary material is welcomed.
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