Téma:  Case Studies

Fabry disease - illness you have to think about

Daniela Kantárová, Alena Ježíková, Katarína Macháleková, Egon Kurča, Pavel Makovický, Marián Mokáň

The authors describe a case of 24-years-old male who was admitted for attacks of severe pain of muscles and joints of lower extremities lasting from early childhood, without any explanation despite frequent hospitalizations. Proteinuria and positivity of antinuclear antibodies were detected and consistently the renal biopsy was performed. The histological finding was typical for Fabry disease - rare X-linked disorder of metabolism of glycosfingolipides due to the deficiency of lysosomal enzyme α-D-galactosidase. The results are inclusions of glycosfingolipides in several tissues with destruction of their structure and function. The hope for patients is enzyme replacement therapy with recombinant α-D-galactosidase which can improve the function of affected organs and prognosis of patients with Fabry disease.

Ročník 2008  Témy časopisu Internal medicine 11 / 2008

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prof. MUDr. Ivica Lazúrová, CSc. FRCP

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MUDr. Viera Fedelešová, CSc.
prof. MUDr Martin Haluzík, CSc.
prof. MUDr. Štefan Hrušovský, CSc. Dr.SVS.
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prof. MUDr. Peter Mitro, PhD.
doc. MUDr. Viliam Mojto, CSc., MHA
prof. MUDr. Karel Pacák, DrSc.
prof. MUDr. Juraj Payer, CSc., FRCP
doc. MUDr. Ján Podoba, CSc.
prof. MUDr. Igor Riečanský, DrSc.
doc. MUDr. Ján Staško, PhD.
doc. MUDr. Mária Szántová, PhD.
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2. Stenestrand U, Wallentin L. Swedish Register of Cardiac Intensive Care (RIKS-HIA): Early statin treatment following acute myocardial infarction and 1-year survival. JAMA 2001; 285(4): 430-436.
3. LIPID Study Group. Prevention of cardiovascular events and death with pravastatin in patients with coronary heart disease and a broad range of initial cholesterol levels. N Engl J Med 1998; 339: 1349-1357.
4. Jurkovičová O, Spitzerová H, Cagáň S. Komorové arytmie a náhla srdcová smrť pri akútnom infarkte myokardu. Bratisl Lek Listy 1997; 98: 379-389.
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