Phenotypic differences of mutation‐negative cases in Gitelman syndrome clinically diagnosed in adulthood,Human Mutation

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Phenotypic differences of mutation‐negative cases in Gitelman syndrome clinically diagnosed in adulthood
Human Mutation ( IF 3.3 ) Pub Date : 2020-12-21 , DOI: 10.1002/humu.24159
Takayasu Mori ₁ , Motoko Chiga ₁ , Takuya Fujimaru ₁ , Ryosuke Kawamoto ₁ , Shintaro Mandai ₁ , Azuma Nanamatsu ₁ , Naohiro Nomura ₁ , Fumiaki Ando ₁ , Koichiro Susa ₁ , Eisei Sohara ₁ , Tatemitsu Rai ₁ , Shinichi Uchida ₁

Affiliation

Gitelman syndrome (GS), an autosomal recessive kidney disorder, is characterized by hypokalemia, hypomagnesemia, hypocalciuria, and metabolic alkalosis. Generally, diagnosis is made in school‐aged children but multiple cases have been diagnosed in adulthood. This study examines the phenotypic differences between genetically confirmed cases and mutation‐negative cases in adults. A comprehensive screening of 168 genes, including GS‐related genes, was performed for 84 independent individuals who were referred to our institute with a clinical diagnosis of GS. The cases of pseudo‐Bartter syndrome (BS)/GS because of diuretic abuse or other causes, which was determined based on patients' medical records, were excluded during registration. Of these 70 eligible cases for analysis, 27 (38.6%) had genetic confirmation of GS, while 37 (52.8%) had no known variants associated with GS and were considered to be unsolved cases. Note that unsolved cases comprised older, mostly female, individuals with decreased kidney function and multiple basic features of GS. The phenotype of unsolved cases is similar to that of pseudo BS/GS cases, although these cases were excluded in advance. However, the genetic and autoimmune profiles of these unsolved cases have not yet been investigated to date. Therefore, these cases may be categorized into new disease groups.

中文翻译：

成年期临床诊断的 Gitelman 综合征突变阴性病例的表型差异

Gitelman 综合征 (GS) 是一种常染色体隐性遗传的肾脏疾病，以低钾血症、低镁血症、低钙尿症和代谢性碱中毒为特征。通常，诊断是在学龄儿童中进行的，但在成年期已诊断出多个病例。本研究检查了成人基因确诊病例和突变阴性病例之间的表型差异。对 84 名临床诊断为 GS 的独立个体进行了 168 个基因的全面筛查，包括 GS 相关基因。根据患者病历确定的因滥用利尿剂或其他原因导致的假性巴特综合征（BS）/ GS病例在登记时被排除在外。在这 70 例符合分析条件的病例中，27 例 (38.6%) 有 GS 基因确认，而 37 例 (52. 8%）没有与 GS 相关的已知变异，被认为是未解决的病例。请注意，未解决的病例包括肾功能下降和 GS 多种基本特征的老年人（主要是女性）。未解决病例的表型与假 BS/GS 病例的表型相似，尽管这些病例被提前排除。然而，迄今为止尚未调查这些未解决病例的遗传和自身免疫特征。因此，这些病例可以归类为新的疾病组。迄今为止，尚未调查这些未解决病例的遗传和自身免疫特征。因此，这些病例可以归类为新的疾病组。迄今为止，尚未调查这些未解决病例的遗传和自身免疫特征。因此，这些病例可以归类为新的疾病组。

更新日期：2021-02-10

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