[MIM 614 748]

(acronym for Interstial Lung disease, Nephrotic syndrome, Epidermolysis Bullosa, congenital)

Very rare: a few cases have been described. Autosomal recessive transmission of a mutation of the ITGA3 gene (17q21.33), resulting in an anomaly of integrin 3 and so of the basal membrane in the lung, kidney and skin.

Clinical presentation:

-        congenital nephrotic syndrome with focal and segmental glomerulosclerosis

-        severe interstitial lung disease

-        epidermolysis bullosa

Anesthetic implications:

check renal function; hypoalbuminemia; fragile skin (see epidermolysis bullosa)

References :

Updated: July 2018