[Two cases of Dent disease type 1 with Bartter-like phenotype and literature review].

M Cheng, X Meng, M Liu, C X Gong
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Abstract

The clinical presentation, treatment, and follow-up of two boys with type 1 Dent disease who exhibited a Bartter-like phenotype were retropectively analysed. The related literature of pediatric patients with type 1 Dent disease who had hypokalemia and metabolic alkalosis was screened through databases such as PubMed, CNKI, and Wanfang until February 1, 2024, and common features among these patients were summarized through literature review. A total of 7 literatures were included, and 9 children were included in the analysis. All patients were male, presenting with significant low molecular weight proteinuria and hypercalciuria. Other prominent characteristic phenotypes included short stature (7/8), hypophosphatemia (8/9), and rickets (6/8). Seven previously reported patients had missense or nonsense mutations, while 2 patients in this study carried possible pathogenic mutations in the CLCN5 gene, c.315+2T>A (p.?) and c.584dupT (p.I196Yfs*6), respectively. Five patients were able to maintain blood potassium levels around 3 mmol/L with oral potassium chloride solution combined with non-steroidal anti-inflammatory drugs (ibuprofen or indomethacin). The follow-up showed that 2 patients developed chronic kidney disease stage 4 and stage 3 at the age of 13 and 21 years, respectively. The phenotypic overlap between Dent disease and Batter syndrome is considerable,with the distinguishing feature being the presence of significant low molecular weight proteinuria. Patients with type 1 Dent disease presenting with the Bartter-like phenotype have a high prevalence of short stature, hypophosphatemia, and rickets. Non-steroidal anti-inflammatory drugs can be used to correct hypokalemia in patients under periodic renal function assessment.

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[两例具有 Bartter 样表型的 Dent 病 1 型病例及文献综述]。
回顾性分析了两名表现为巴特样表型的1型登特病男孩的临床表现、治疗和随访情况。在PubMed、CNKI和万方等数据库中筛选了截至2024年2月1日患有低钾血症和代谢性碱中毒的1型登特病患者的相关文献,并通过文献综述总结了这些患者的共同特征。共纳入 7 篇文献,9 名儿童被纳入分析。所有患者均为男性,表现为明显的低分子量蛋白尿和高钙尿症。其他突出的特征性表型包括身材矮小(7/8)、低磷血症(8/9)和佝偻病(6/8)。之前报道的 7 例患者存在错义或无义突变,而本研究中的 2 例患者的 CLCN5 基因可能存在致病突变,分别为 c.315+2T>A (p.?) 和 c.584dupT (p.I196Yfs*6)。5 名患者在口服氯化钾溶液和非甾体抗炎药物(布洛芬或吲哚美辛)后,血钾水平维持在 3 mmol/L 左右。随访结果显示,2 名患者分别在 13 岁和 21 岁时发展为慢性肾病 4 期和 3 期。Dent 病与巴特综合征的表型有很大的重叠,其显著特点是存在大量低分子量蛋白尿。表现为巴特综合征样表型的 1 型登特病患者中,身材矮小、低磷血症和佝偻病的发病率很高。非甾体类抗炎药可用于纠正定期接受肾功能评估的患者的低钾血症。
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来源期刊
Zhonghua yi xue za zhi
Zhonghua yi xue za zhi Medicine-Medicine (all)
CiteScore
0.80
自引率
0.00%
发文量
400
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