期刊
NEW ENGLAND JOURNAL OF MEDICINE
卷 366, 期 16, 页码 1508-1514出版社
MASSACHUSETTS MEDICAL SOC
DOI: 10.1056/NEJMoa1110813
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资金
- Federal Ministry for Education and Research
- Excellence Initiative of the German Federal Government
- Institute for Advanced Studies School of Life Sciences-LifeNet
- National Institutes of Health [DK076683, DK086542]
- Great Ormond Street Hospital Childrens Charity [V0901] Funding Source: researchfish
- Medical Research Council [G0802138] Funding Source: researchfish
- MRC [G0802138] Funding Source: UKRI
Integrin alpha(3) 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 alpha(3) 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.
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