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Journals / Ege Tıp Dergisi / 2015 / Cilt: 54 - Sayı: 1

A rare cause of end stage renal disease: Fabry disease

Son dönem böbrek yetmezliğinin nadir bir nedeni: Fabry hastalığı

Bennur ESEN
Ahmet Engin ATAY
Emel GÖKMEN
Süleyman YILDIRIM
DEDE ŞİT
Pages
33–35
DOI
—
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

In this report, a 23-year-old male patient diagnosed as Farby disease by genetic analysis is presented who had mitral insufficiency, cardiomyopathy and end stage renal failure requiring hemodialysis.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Fabry disease is the second most common lysosomal storage disease after Gaucher disease.
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Key Findings & Data:Although there are many systemic symptoms, generally diagnosis of Fabry disease is delayed.
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Conclusion & Impact:In this report, a 23-year-old male patient diagnosed as Farby disease by genetic analysis is presented who had mitral insufficiency, cardiomyopathy and end stage renal failure requiring hemodialysis.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Fabry disease is the second most common lysosomal storage disease after Gaucher disease. Although there are many systemic symptoms, generally diagnosis of Fabry disease is delayed. Having a family history of Fabry disease with symptoms is important for diagnosis. In this report, a 23-year-old male patient diagnosed as Farby disease by genetic analysis is presented who had mitral insufficiency, cardiomyopathy and end stage renal failure requiring hemodialysis.

Özet

Fabry hastalığı, Gaucher h astalığından sonra, ikinci en sık lizozomal depo hastalığıdır. Sistemik olarak pek çok bulgu vermesine rağmen teşhisi genellikle gecikmektedir. Benzer hastalık bulguları olan aile öyküsü , tanı için önemlidir. Bu yaz ıda, mitral yetmezlliği ve kardiyomyopati mevcut olup son dönem böbrek yetmezliği nedeniyle hemodiyaliz uygulanan ve genetik analiz sonucu Fabry h astalığı tanısı konulan 23 yaşında erkek hasta sunulmaktadır.

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Cite This Article

ESEN, B., ATAY, A. E., GÖKMEN, E., YILDIRIM, S., ŞİT, D. (2015). A rare cause of end stage renal disease: Fabry disease. Ege Tıp Dergisi, Cilt: 54 - Sayı: 1, 33–35. https://ajindex.com/articles/222728

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References (10)

  1. Garman SC, Garboczi DN. The molecular defect leading to Fabry disease: Structure of human alpha -galactosidase. J Mol Biol 2004;337(2):319 -35
  2. Branton MH, Schiffmann R, Sabnis SG, et al. Natural history of Fabry renal disease: I nfluence of alpha -galactosidase A activity and genetic mutations on clinical course. Med icine 2002;81(2):122 -38
  3. Branton M, Schiffmann R, Kopp JB. Natural history and treatment of renal involvement in Fabry disease. J Am Soc Nephrol 2002;13 (Suppl 2 ):S139 -43
  4. Thadhani R, Wolf M, West ML, et al. Patients with Fabry disease on dialysis in the United States. Kidney Int 2002;61(1):249 -55
  5. Mehta A, Ricci R, Widmer U, et al. Fabry disease defined: Baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest 2004;34 (3):236 -42
  6. Jansen T, Bechara FG, Altmeyer P. Angiokeratomas: Symptoms, Diagnosis and Therapy. Danderyd, Sweden: TKT Europe; 2004: 5S
  7. Mehta A, Beck M, Elliott P, et al. Enzyme replacement therapy with aga lsidase alfa in patients with Fabry’s disease: An analysis of registry data. Lancet 2009;374 (9706):1986 -96
  8. Ruggenenti P, Perna A, Remuzzi G. ACE inhibitors to prevent end -stage renal disease: W hen to start and why possibly never to stop: A post hoc analys is of the REIN trial results. Ramipril e fficacy in n ephropathy. J Am Soc Nephrol 2001;12 (12):2832 -7
  9. Ries M, Clarke JT, Whybra C, et al. Enzyme replacement in Fabry disease: Pharmacokinetics and pharmacodynamics of agalsidase alpha in children and adolesce nts. J Clin Pharmacol 2007;47 (10):1222-30
  10. Baehner F, Kampmann C, Whybra C, Miebach E, Wiethoff CM, Beck M. Enzyme replacement therapy in heterozygous females with Fabry disease: Results of a phase IIIB study. J Inherit Metab Dis 2003;26 (7):617 -27.