Green Life Medical College and Hospital, Dhaka 1205, Bangladesh.
Department of Medicine, Faculty of Health Sciences, Universidade Positivo, R. Professor Pedro Viriato Parigot de Souza, Curitiba 5300, Brazil.
Medicina (Kaunas). 2023 Sep 11;59(9):1638. doi: 10.3390/medicina59091638.
: Bartter syndrome (BS) is a rare group of autosomal-recessive disorders that usually presents with hypokalemic metabolic alkalosis, occasionally with hyponatremia and hypochloremia. The clinical presentation of BS is heterogeneous, with a wide variety of genetic variants. The aim of this systematic review was to examine the available literature and provide an overview of the case reports and case series on BS. : Case reports/series published from April 2012 to April 2022 were searched through Pubmed, JSTOR, Cochrane, ScienceDirect, and DOAJ. Subsequently, the information was extracted in order to characterize the clinical presentation, laboratory results, treatment options, and follow-up of the patients with BS. : Overall, 118 patients, 48 case reports, and 9 case series ( = 70) were identified. Out of these, the majority of patients were male ( = 68). A total of 21 patients were born from consanguineous marriages. Most cases were reported from Asia (73.72%) and Europe (15.25%). In total, 100 BS patients displayed the genetic variants, with most of these being reported as Type III ( = 59), followed by Type II ( = 19), Type I ( = 14), Type IV ( = 7), and only 1 as Type V. The most common symptoms included polyuria, polydipsia, vomiting, and dehydration. Some of the commonly used treatments were indomethacin, potassium chloride supplements, and spironolactone. The length of the follow-up time varied from 1 month to 14 years. : Our systematic review was able to summarize the clinical characteristics, presentation, and treatment plans of BS patients. The findings from this review can be effectively applied in the diagnosis and patient management of individuals with BS, rendering it a valuable resource for nephrologists in their routine clinical practice.
巴特综合征(BS)是一组罕见的常染色体隐性遗传疾病,通常表现为低钾代谢性碱中毒,偶尔伴有低钠血症和低氯血症。BS 的临床表现具有异质性,存在多种遗传变异。本系统评价的目的是检查现有文献,并对 BS 的病例报告和病例系列进行综述。
从 2012 年 4 月至 2022 年 4 月,通过 Pubmed、JSTOR、Cochrane、ScienceDirect 和 DOAJ 搜索病例报告/系列。随后,提取信息以描述 BS 患者的临床表现、实验室结果、治疗选择和随访情况。
总的来说,共确定了 118 名患者,48 份病例报告和 9 份病例系列(=70)。其中,大多数患者为男性(=68)。共有 21 名患者出生于近亲结婚家庭。大多数病例报告来自亚洲(73.72%)和欧洲(15.25%)。共有 100 名 BS 患者显示出基因变异,其中大多数报告为 III 型(=59),其次为 II 型(=19)、I 型(=14)、IV 型(=7),仅有 1 例为 V 型。最常见的症状包括多尿、多饮、呕吐和脱水。一些常用的治疗方法包括吲哚美辛、氯化钾补充剂和螺内酯。随访时间长短不一,从 1 个月到 14 年不等。
我们的系统评价能够总结 BS 患者的临床特征、表现和治疗方案。本综述的结果可有效应用于 BS 患者的诊断和患者管理,为肾病医生的日常临床实践提供有价值的资源。