Adult classic Bartter syndrome: a case report with 5-year follow-up and literature review

IF 1.3 4区 医学 Q4 ENDOCRINOLOGY & METABOLISM Endocrine journal Pub Date : 2024-03-19 DOI:10.1507/endocrj.ej23-0631
Le Jiang, Dongmei Li, Qiansha Guo, Yunfeng Li, Lei Zan, Rihan Ao
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Abstract

Bartter syndrome (BS) is a rare, inherited salt-losing renal tubular disorder characterized by secondary hyperaldosteronism, hypokalemia, hypochloremia, metabolic alkalosis, and low-to-normal blood pressure. Classic BS, or BS Type 3, the most common subtype in the Asian population, is caused by a molecular defect in ClC-Kb, a voltage-gated chloride channel in renal tubules, due to CLCNKB gene mutation. Because the onset of BS is more common in children than in adults, the diagnosis, treatment outcomes, genotype/phenotype association, and follow-up of adult-onset BS Type 3 are limited. This case report describes the findings in a 20-year-old man who was admitted with hypokalemic paralysis, with clinical manifestations were similar to those of Gitelman syndrome (GS); however, the patient was later diagnosed to have BS Type 3 through genetic testing (NM_000085.4 (CLCNKB): c.1052G>T). A literature review showed that no homozygous mutations have been reported to date. After 5 years of treatment and follow-up, we found that this genotype requires high levels of potassium and is prone to urinary protein and metabolic syndrome. Distinguishing adult-onset BS from GS is challenging in clinical practice. However, genetic diagnosis can help solve this problem effectively, and genotypes play a guiding role in treatment planning.

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成人典型巴特综合征:病例报告、5 年随访和文献综述
巴特综合征(BS)是一种罕见的遗传性失盐性肾小管疾病,以继发性高醛固酮症、低钾血症、低氯血症、代谢性碱中毒和低至正常的血压为特征。经典 BS 或 BS 3 型是亚洲人群中最常见的亚型,其病因是 CLCNKB 基因突变导致肾小管中电压门控氯离子通道 ClC-Kb 的分子缺陷。由于儿童 BS 的发病率高于成人,因此对成人发病的 BS 3 型的诊断、治疗效果、基因型/表型关联和随访研究十分有限。本病例报告描述了一名因低钾性麻痹入院的 20 岁男性的研究结果,其临床表现与 Gitelman 综合征(GS)相似,但后来通过基因检测(NM_000085.4 (CLCNKB):c.1052G>T)被确诊为 BS 3 型。文献综述显示,迄今为止还没有同基因突变的报道。经过 5 年的治疗和随访,我们发现这种基因型需要高水平的钾,容易出现尿蛋白和代谢综合征。在临床实践中,将成人发病型 BS 与 GS 区分开来具有挑战性。然而,基因诊断可以帮助有效解决这一问题,而且基因型在治疗计划中起着指导作用。
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来源期刊
Endocrine journal
Endocrine journal 医学-内分泌学与代谢
CiteScore
4.30
自引率
5.00%
发文量
224
审稿时长
1.5 months
期刊介绍: Endocrine Journal is an open access, peer-reviewed online journal with a long history. This journal publishes peer-reviewed research articles in multifaceted fields of basic, translational and clinical endocrinology. Endocrine Journal provides a chance to exchange your ideas, concepts and scientific observations in any area of recent endocrinology. Manuscripts may be submitted as Original Articles, Notes, Rapid Communications or Review Articles. We have a rapid reviewing and editorial decision system and pay a special attention to our quick, truly scientific and frequently-citable publication. Please go through the link for author guideline.
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