Differential diagnosis of Bartter syndrome, Gitelman syndrome, and pseudo-Bartter/Gitelman syndrome based on clinical characteristics
Differential diagnosis of Bartter syndrome, Gitelman syndrome, and pseudo-Bartter/Gitelman syndrome based on clinical characteristics
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DOI：
10.1038/gim.2015.56
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发表时间：
2016-02-01
影响因子：
8.8
通讯作者：
Iijima, Kazumoto
中科院分区：
文献类型：
--
作者：
Matsunoshita, Natsuki;Nozu, Kandai;Iijima, Kazumoto
目的：III型Bartter综合征（BS）、Gitelman综合征（GS）和假BS/GS -（p-BS/GS）之间存在表型重叠，临床上难以区分。我们的目的是澄清这些疾病之间的差异，允许准确诊断的基础上，他们的临床feature.Methods：共163例患者与遗传定义的III型BS（n = 30），GS（n = 90），和p-BS/GS（n = 43）。诊断时的年龄，性别，体重指数，估计肾小球滤过率，血清和尿电解质浓度determined.Results：p-BS/GS患者的年龄显着高于那些与III型BS和GS诊断。与GS患者相比，p-BS/GS患者中女性比例显著较高，体重指数和估计肾小球滤过率较低。虽然低镁血症和低钙尿症是GS患者的主要生化结果，但III型BS和p-BS/GS患者中分别有17%和23%也显示出这些异常。与III型BS，GS，和p-BS/GS，分别为40，12和63%的患者，提出了慢性肾脏病diseases.Conclusions：本研究澄清BS，GS，和p-BS/GS之间的临床差异的第一次，这将有助于临床医生建立这三个条件的鉴别诊断。
Purpose: Phenotypic overlap exists among type III Bartter syndrome (BS), Gitelman syndrome (GS), and pseudo-BS/GS -(p-BS/GS), which are clinically difficult to distinguish. We aimed to clarify the differences between these diseases, allowing accurate diagnosis based on their clinical features.Methods: A total of 163 patients with genetically defined type III BS (n = 30), GS (n = 90), and p-BS/GS (n = 43) were included. Age at diagnosis, sex, body mass index, estimated glomerular filtration rate, and serum and urine electrolyte concentrations were determined.Results: Patients with p-BS/GS were significantly older at diagnosis than those with type III BS and GS. Patients with p-BS/GS included a significantly higher percentage of women and had a lower body mass index and estimated glomerular filtration rate than did patients with GS. Although hypomagnesemia and hypocalciuria were predominant biochemical findings in patients with GS, 17 and 23% of patients with type III BS and p-BS/GS, respectively, also showed these abnormalities. Of patients with type III BS, GS, and p-BS/GS, 40, 12, and 63%, respectively, presented with chronic kidney disease.Conclusions: This study clarified the clinical differences between BS, GS, and p-BS/GS for the first time, which will help clinicians establish differential diagnoses for these three conditions.