title: [Kidney diseases in dystrophic epidermolysis bullosa: case report].
abstract: Dystrophic epidermolysis bullosa is a genetic skin disease of which the recessive subtype also named Hallopeau-Siemens is the most severe. It is due to lack of expression of type VII collagen which is essential for dermal anchoring. Severe obstructive uropathies of the urethral and bladder area may occur during the first years of life, in relation to local bullous activity. As in acquired bullous diseases, glomerular complications may occur in the dystrophic form during the second and third decade. They consist mostly in AA amylosis or mesangial immunoglobuline A glomerulonephritis, in relation to chronic inflammation and repeated cutaneous infections. End stage renal failure occurs in most cases. Only haemodialysis was used as suppletive treatment in four patients for a short period.
authors.affiliation: Unité de néphrologie-hémodialyse, centre hospitalier d'Annecy, 74000 Annecy, France. secr.nephrologie@ch-annecy.fr <secr.nephrologie@ch-annecy.fr>
authors.forename: Francis
authors.initials: F
authors.lastname: Ducret
authors.forename: Philippe
authors.initials: P
authors.lastname: Pointet
authors.forename: Cécile
authors.initials: C
authors.lastname: Turc-Baron
authors.forename: Guillaume
authors.initials: G
authors.lastname: Vernin
mesh_terms: D000328:Adult; D016108:Epidermolysis Bullosa Dystrophica / Q000150:complications*; D005260:Female; D006801:Humans; D006435:Renal Dialysis; D051437:Renal Insufficiency / Q000150:complications* / Q000628:therapy