Anderson-Fabry disease: diagnostic problems from gastrointestinal manifestations to the diagnosis of kidney disease.
We report a case of a 52-year-old male who has been diagnosed for many years because of chronic diarrhea and proteinuria with concomitant gradually progressing chronic kidney disease. Diagnostic problems associated with the initial diagnosis of amyloidosis as a primary cause of the patient's complaints have been described. Anderson-Fabry disease (AFD) was suspected following comprehensive evaluation that resulted eventually in the exclusion of amyloidosis and the echocardiographic examination showing hypertrophic cardiomyopathy in the patient with no history of hypertension and aortic valve defects. The diagnosis of AFD was confirmed by results of enzymatic tests.
Brymora
Andrzej
A
Department of Nephrology, Hypertension and Internal Diseases, Collegium Medicum of Nicolaus Copernicus University, Bydgoszcz, Poland. nerka@nerka.cpro.pl
Trafny
Ryszard
R
Bogucka
Sonia
S
Marszałek
Andrzej
A
Korenkiewicz
Jadwiga
J
Flisiński
Mariusz
M
Manitius
Jacek
J
D000686:Amyloidosis / Q000209:etiology; D003937:Diagnosis, Differential; D003967:Diarrhea / Q000209:etiology; D000795:Fabry Disease / Q000150:complications* / Q000175:diagnosis*; D006801:Humans; D007676:Kidney Failure, Chronic / Q000209:etiology; D008297:Male; D008875:Middle Aged; D011507:Proteinuria / Q000209:etiology