title: Anderson-Fabry disease: diagnostic problems from gastrointestinal manifestations to the diagnosis of kidney disease.
abstract: 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.
authors.affiliation: Department of Nephrology, Hypertension and Internal Diseases, Collegium Medicum of Nicolaus Copernicus University, Bydgoszcz, Poland. nerka@nerka.cpro.pl
authors.forename: Andrzej
authors.initials: A
authors.lastname: Brymora
authors.forename: Ryszard
authors.initials: R
authors.lastname: Trafny
authors.forename: Sonia
authors.initials: S
authors.lastname: Bogucka
authors.forename: Andrzej
authors.initials: A
authors.lastname: Marszałek
authors.forename: Jadwiga
authors.initials: J
authors.lastname: Korenkiewicz
authors.forename: Mariusz
authors.initials: M
authors.lastname: Flisiński
authors.forename: Jacek
authors.initials: J
authors.lastname: Manitius
mesh_terms: 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