Integrin α3 mutations with kidney, lung, and skin disease.
Integrin α3 mutations with kidney, lung, and skin disease.
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肾脏，肺和皮肤病的整合素α3突变。
DOI：
10.1056/nejmoa1110813
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发表时间：
2012-04-19
期刊：
影响因子：
--
通讯作者：
Laube GF
中科院分区：
文献类型：
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作者：
Has C;Spartà G;Kiritsi D;Weibel L;Moeller A;Vega-Warner V;Waters A;He Y;Anikster Y;Esser P;Straub BK;Hausser I;Bockenhauer D;Dekel B;Hildebrandt F;Bruckner-Tuderman L;Laube GF
整合素α3是一种跨膜整合素受体亚单位，在细胞和微环境之间传递信号。我们确定了三名整合素α3基因纯合突变的患者，这些突变与肾、肺和皮肤的基底膜结构破坏和屏障功能受损有关。这些患者有多器官功能障碍，包括先天性肾病综合征、间质性肺疾病和大疱性表皮松解症。以肾脏和呼吸系统特征为主，肺部受累是本病的致死原因。虽然皮肤的脆性很轻微，但它为诊断提供了线索。
Integrin α3 is a transmembrane integrin receptor subunit that mediates signals between the cells and their microenvironment. We identified three patients with homozygous mutations in the integrin α3 gene that were associated with disrupted basement-membrane structures and compromised barrier functions in kidney, lung, and skin. The patients had a multiorgan disorder that included congenital nephrotic syndrome, interstitial lung disease, and epidermolysis bullosa. The renal and respiratory features predominated, and the lung involvement accounted for the lethal course of the disease. Although skin fragility was mild, it provided clues to the diagnosis.