Inherited epidermolysis bullosa and the risk of death from renal disease: experience of the National Epidermolysis Bullosa Registry.
BACKGROUND
Isolated case reports and limited clinical series suggested that renal failure may occur in some patients with inherited epidermolysis bullosa (EB). Reported causes have included poststreptococcal glomerulonephritis, secondary amyloidosis, and chronic mechanical obstruction. To date, no data exist that permit an accurate estimation of the risk for death from renal failure in patients with this disease.


METHODS
Life table analyses were performed using 16 years of data from the National EB Registry, a federally funded longitudinal epidemiological study encompassing the entire continental United States. Data were stratified so that cumulative and conditional risks for death from renal failure could be estimated. Renal failure as cause of death was identified by death certificates and verified from hospital records and interviews with the patients' immediate families.


RESULTS
The cumulative risk for death from renal failure among patients with Hallopeau-Siemens recessive dystrophic EB (RDEB-HS) was 12.3% by age 35 years. In addition, deaths from renal failure also were reported rarely in patients with other subtypes of generalized RDEB and in junctional EB (JEB).


CONCLUSIONS
Renal failure is an important cause of death among adults with RDEB-HS, surpassed only by death from metastatic squamous cell carcinoma. It also rarely may occur in the setting of JEB and other subtypes of generalized RDEB. Given our data, medical surveillance for early renal involvement should become part of the routine evaluation of all adults with RDEB and JEB.
Fine
Jo-David
JD
The National Epidermolysis Bullosa Registry, Lexington, KY, USA. ProfMoose@aol.com
Johnson
Lorraine B
LB
Weiner
Madeline
M
Stein
Amy
A
Cash
Sarah
S
DeLeoz
Joy
J
Devries
David T
DT
Suchindran
Chirayath
C
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004820:Epidermolysis Bullosa / Q000150:complications* / Q000235:genetics*; D016108:Epidermolysis Bullosa Dystrophica / Q000150:complications / Q000235:genetics; D016109:Epidermolysis Bullosa, Junctional / Q000150:complications / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D015993:Life Tables; D008297:Male; D012042:Registries; D051437:Renal Insufficiency / Q000209:etiology* / Q000401:mortality*; D012306:Risk