[Fabry disease. An interdisciplinary challenge].
Fabry disease is an inherited X-linked lysosomal storage disease due to a genetic defect of the GLA gene which encodes the protein of the enzyme alpha-galaktosidase A. Under normal concentrations this lysosomal enzyme is involved in degradation and catabolism processes of membrane glycosphingolipids in almost all cells of the human organism. The enzyme deficiency leads to a progressive accumulation of globotriaosylceramide (Gb3) in various tissues and organ systems and is responsible for the large variability of the clinical signs and symptoms of the disease. First signs and symptoms such as painful neuropathy (acroparethesia), hypo- or unhidrosis and gastrointestinal disturbances can be found already in childhood and mainly affect quality of life. In the following decades of life, renal cardiac, and cerebrovascular complications occur in hemizygous males and with some delay in a part of heterozygous females as well. If not treated, these complications result in increased morbidity and premature mortality. With the introduction of the enzyme replacement therapy (ERT) in 2001 a causal treatment is available. Published data from clinical trials and observational studies demonstrated that ERT mitigates signs and symptoms of the disease as well as quality of life, and has the potential to reduce mortality. The efficacy of ERT seems to be less pronounced in severe cases of the disease, which makes an early diagnosis and treatment more important in order to prevent or improve the progression of the disease.
Cybulla
M
M
Abteilung IV (Nephrologie), Medizinische Klinik, Albert-Ludwigs-Universität Freiburg, Freiburg. markus.cybulla@uniklinik-freiburg.de
Neumann
H P H
HP
D003937:Diagnosis, Differential; D005124:Eye Abnormalities / Q000209:etiology; D000795:Fabry Disease / Q000175:diagnosis* / Q000188:drug therapy* / Q000235:genetics; D005260:Female; D005767:Gastrointestinal Diseases / Q000209:etiology; D006331:Heart Diseases / Q000209:etiology; D006801:Humans; D033183:Interdisciplinary Communication; D007668:Kidney / Q000473:pathology; D008297:Male; D001523:Mental Disorders / Q000209:etiology; D009422:Nervous System Diseases / Q000209:etiology; D010292:Paresthesia / Q000209:etiology; D011788:Quality of Life; D012867:Skin / Q000473:pathology; D013542:Sweat / Q000378:metabolism; D014281:Trihexosylceramides / Q000378:metabolism*; D000519:alpha-Galactosidase / Q000235:genetics* / Q000627:therapeutic use*
D014281:Trihexosylceramides; C018549:globotriaosylceramide; D000519:alpha-Galactosidase