Bartter syndrome representing digenic-based salt-losing tubulopathies presumably accelerated by renal insufficiency
Bartter syndrome representing digenic-based salt-losing tubulopathies presumably accelerated by renal insufficiency
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巴特综合征代表基于双基因的失盐性肾小管病，可能因肾功能不全而加速
DOI：
10.1007/s13730-020-00489-3
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发表时间：
2020
期刊：
影响因子：
1
通讯作者：
Nishino Tomoya
中科院分区：
文献类型：
--
作者：
Umene Ryusuke;Kitamura Mineaki;Arai Hideyuki;Matsumura Kazuki;Ishimaru Yuka;Maeda Kanenori;Uramatsu Tadashi;Obata Yoko;Mori Takayasu;Sohara Eisei;Uchida Shinichi;Nishino Tomoya
Bartter综合征和Gitelman综合征（GS）是常染色体隐性遗传疾病，通常由致病基因的纯合或复合杂合突变引起。在某些患者中，这两种综合征不能根据临床特征或突变类型进行区分;因此，使用了单一疾病概念，即失盐性肾小管病变（SLT）。尽管存在几个致病基因，但两个不同基因中的双基因杂合突变的情况极为罕见。在这里，我们报告了一名36岁女性因SLT引起肾功能不全和低钾血症的病例。为了评估SLE表型，我们进行了下一代测序（NGS），包括SLC 12 A3、SLC 12 A1、CLCNKB和CLCNKA基因组，以及实验室检查和利尿剂负荷试验。利尿负荷试验结果与GS表型一致，而NGS结果显示患者在SLC 12 A1和CLCNKB中存在杂合突变。这两个基因都与BS相关，表明BS是由两个不同基因的双基因杂合突变引起的。到目前为止，只有少数病例是由两个不同基因的双基因杂合突变引起的。推测中度肾功能不全加速了患者的双基因突变表型。
Bartter syndrome and Gitelman syndrome (GS) are autosomal recessive disorders usually caused by homozygous or compound heterozygous mutations in causative genes. In some patients, these two syndromes cannot be discriminated based on clinical features or mutation type; thus, a single disease concept, salt-losing tubulopathies (SLTs), has been used instead. Despite the existence of several SLT causative genes, cases of digenic heterozygous mutations in two different genes are extremely rare. Here, we report the case of a 36-year-old woman with renal insufficiency and hypokalemia caused by an SLT. To evaluate the SLT phenotype, we performed next-generation sequencing (NGS) with a gene panel includingSLC12A3,SLC12A1,CLCNKB, andCLCNKAas well as laboratory examinations and diuretic loading tests. The results of the diuretic loading tests were consistent with a GS phenotype, while the NGS results showed that the patient had heterozygous mutations inSLC12A1andCLCNKB. Both genes have been associated with BS, suggesting that the SLT was caused by digenic heterozygous mutations in two different genes. To date, only a few SLT cases caused by digenic heterozygous mutations in two different genes have been reported. The digenic SLT phenotype in the patient was presumably accelerated by moderate renal insufficiency.
影响因子：
158.5
作者：
Schlingmann, KP;Konrad, M;Waldegger, S
通讯作者：
Waldegger, S
IV型Bartter综合征表型双基因遗传的分子分析
DOI：
--
发表时间：
2007
期刊：
影响因子：
--
作者：
Nozu K.;Kaito H.;Nakanishi K.;Yoshikawa N.;Iijima K.;Matsuo M
通讯作者：
Matsuo M