Matsunoshita Natsuki, Nozu Kandai, Shono Akemi, Nozu Yoshimi, Fu Xue Jun, Morisada Naoya, Kamiyoshi Naohiro, Ohtsubo Hiromi, Ninchoji Takeshi, Minamikawa Shogo, Yamamura Tomohiko, Nakanishi Koichi, Yoshikawa Norishige, Shima Yuko, Kaito Hiroshi, Iijima Kazumoto
Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
Department of Pediatrics, Wakayama Medical University, Wakayama, Japan.
Genet Med. 2016 Feb;18(2):180-8. doi: 10.1038/gim.2015.56. Epub 2015 Apr 16.
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.
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.
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.
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.
III型巴特综合征（BS）、吉特林综合征（GS）和假性BS/GS（p-BS/GS）之间存在表型重叠，临床上难以区分。我们旨在阐明这些疾病之间的差异，以便根据其临床特征进行准确诊断。
共纳入163例经基因定义的III型BS患者（n = 30）、GS患者（n = 90）和p-BS/GS患者（n = 43）。测定诊断时的年龄、性别、体重指数、估计肾小球滤过率以及血清和尿液电解质浓度。
p-BS/GS患者诊断时的年龄显著高于III型BS和GS患者。p-BS/GS患者中女性比例显著更高，体重指数和估计肾小球滤过率低于GS患者。虽然低镁血症和低钙尿症是GS患者的主要生化表现，但III型BS和p-BS/GS患者中分别有17%和23%也表现出这些异常。III型BS、GS和p-BS/GS患者中分别有40%、12%和63%患有慢性肾脏病。
本研究首次阐明了BS、GS和p-BS/GS之间的临床差异，这将有助于临床医生对这三种疾病进行鉴别诊断。
