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N Engl J Med. 2012 Apr 19;366(16):1508-14. doi: 10.1056/NEJMoa1110813.

Integrin α3 mutations with kidney, lung, and skin disease.

Author information

1
Department of Dermatology, University Freiburg Medical Center, Freiburg, Germany.

Abstract

Integrin α(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 α(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.

PMID:
22512483
PMCID:
PMC3341404
DOI:
10.1056/NEJMoa1110813
[Indexed for MEDLINE]
Free PMC Article

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