[Renal involvement in Fabry disease].
BACKGROUND
Fabry disease is an X-linked recessive lysosomial storage disorder that is caused by deficient activity of alpha galactosidase A. Renal involvement occurs generally in hemizygous forms.


OBJECTIVE
We report one case of renal involvement in Fabry disease.


METHODS
A 47 year-old-man had focal and segmental glomerulosclerosis with moderate renal failure. As the patient presented history of acroparesthesias, hearing loss, left ventricular hypertrophy with arrhythmia and corneal deposits, hemizygous Fabry disease was suspected. This diagnosis was confirmed with low alpha galactosidase activity. After a follow up of 5 years, the renal function remains stable but the patient died by cardiac arrhythmia.


CONCLUSIONS
Occurrence of a glomerulonephritis associated with an hypertrophic cardiopathy without hypertension should advocate Fabry disease.
Service de néphrologie et de médecine interne, Hôpital Charles Nicolle, Tunis.
Hayet
H
Kaaroud
Soumaya
S
Béji
K
K
Boubaker
Fatma
F
Ben Moussa
Fethi
F
Ben Hamida
Rym
R
Goucha
Mohamed F
MF
Ben Dridi
H
H
Ben Turkia
Adel
A
Kheder
D000795:Fabry Disease / Q000175:diagnosis*; D005923:Glomerulosclerosis, Focal Segmental / Q000209:etiology*; D006801:Humans; D008297:Male; D008875:Middle Aged; D051437:Renal Insufficiency / Q000209:etiology