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Frank Breunig , Christoph Wanner

Update on Fabry disease: kidney involvement, renal progression and enzyme replacement therapy. Frank Breunig , Christoph Wanner Division of Nephrology, Department of Medicine I, University Hospital , Würzburg – Germany 24 조 김병수 유길상 이현주. Introduction.

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Frank Breunig , Christoph Wanner

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  1. Update on Fabry disease: kidney involvement, renal progression and enzyme replacementtherapy Frank Breunig, ChristophWanner Division of Nephrology, Department of Medicine I, University Hospital, Würzburg– Germany 24조 김병수 유길상 이현주

  2. Introduction • X-linked lysosomal storage disorder • deficiency of the α-galactosidase A (α-Gal A) → globotriaosylceramide (GL3) • described more than 100 years ago • angiokeratomacorporisdiffusum

  3. CURRENT DISEASE MODEL

  4. EARLY SYMPTOMS • chronic neuropathic pain • lenticular and corneal opacities • angiokeratoma, • hypohidrosis • abdominal pain and bloating.

  5. VITAL ORGAN INVOLVEMENT1. Fabry nephropathy • Microalbuminuriaor proteinuria ; earliest clinical manifestation • serum creatinine values elevated GFR decreased. (105 male Fabry patients, National Institutes of Health (NIH), Maryland, USA, 25 years,) • renal involvement in 50% of42 years • ESRD all patients over 55 years • Renal transplantation in end-stage Fabry nephropathy.

  6. 2. Fabrycardiomyopathy • underlying cause in 6.3% of hypertrophic cardiomyopathy over 40 years. • left ventricular hypertrophy • diastolic dysfunction • valvularinsufficiency → AV-block , sudden cardiac death → cardioverterdefibrillator (ICD)

  7. 3. Cerebrovascular involvement • cryptogenic stroke prevalence ; 4.9% in males and 2.4% in females with unknown Fabrydisease • vertigo • diplopia • hemiataxia • schemiccomplications, • Widespread deep white matter lesions in MRI • alterations of endothelium-mediated vascular reactivity • abnormalities in regional cerebral blood flow • abnormal white matter glucose utilization

  8. ENZYME REPLACEMENT THERAPY • 2001 for Europe (agalactosidasealpha and beta) • 2003 for the United States (agalactosidasebeta only) • nearly complete clearance of GL3 in the vascular endothelium of the kidney, heart and skin • significant improvement in neuropathic pain scores • However, more progressed disease had a less favorable outcome.

  9. CONCOMITANT MEDICATION • ACEIs, ARBs : reduce urinary protein and albumin excretion • Antiplatelet drugs (aspirin, clopidogrel) • statins • Beta blockers • carbamazepine or gabapentin or pregabalin • opioids.

  10. CONCLUSION • Remarkable advances in the management of Fabry disease with ERT. • Proteinuria is a major risk factor for progression of kidney involvement • ongoing studies are investigating the effect of both maximal antiproteinuric therapy and early ERT. • The development of a scoring system to describe kidney involvement might have prognostic value for predicting treatment outcome. • Combined with comprehensive monitoring and Fabrythese efforts will provide further insights into the disease’s pathology and help toward achieving optimal clinical care for Fabry patients

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