Homozigot D409H Mutasyonlu Gaucher Hastasında Arkus Aorta, Aort ve Mitral Kapak Kalsifikasyonu; Olgu Sunumu

Yıl 2011, Cilt: 9 Sayı: 2, 44 - 46, 01.09.2011

Ali Baykan Sertaç Hanedan Onan Sadettin Sezer Fatih Kardaş Mustafa Kendirci Duran Arslan Ertuğrul Mavili Kazım Üzüm Nazmi Narin

Öz

Giriş: Gaucher Hastalığında kardiyovasküler tutulum nadirdir. Aort ve mitral kapakkalsifikasyonu bulunan Gaucher hastalarında homozigot D409H nokta mutasyonutanımlanmıştır. Olgu Sunumu: Bu yazıda; Gaucher hastalığı tanısı ile izlenmekte iken önemli mitralaort kapak ve aorta kalsifikasyonu gelişen, korneal tutulumlu, homozigot D409Hmutasyonlu, iki kardeşinde kalp kapak hastalığı öyküsü bulunan, enzim replasmantedavisi altında izlenmekte olan ve kardiyovasküler cerrahi için yüksek riskli bulunan 17 yaşında kız hasta sunulmuştur. Tartışma: Gaucher Hastalığı’nda nadir görülen, ancak yaşam belirleyici olan kardiyovasküler tutuluma ve bu olguların korneal opasite ve D409H mutasyonu birlikteliğine dikkat çekilmiştir

Anahtar Kelimeler

Gaucher hastalığı, kalp, kalsifikasyon

Arcus Aorta, Aortic and Mitral Valve Calcifications in a Patient with Gaucher’s Disease Homozygous for the D409H Mutation; Case Report

Öz

Introduction: Cardiovascular involvement in Gaucher disease is infrequent. D409H pointmutation has been defined in patients with aortic and mitral valve calcifications. Case Report: In this case report, a 17 year-old girl with Gaucher disease, havinghomozygous D409H point mutation is presented, who has mitral-aortic valve andaortic calcifications with corneal involvement. Her two siblings also had diedaccording to valvular heart disease. Because of having high cardiovascular surgeryrisk, she is under enzyme replacement therapy. Conclusion: We aimed to point out the rare but important and vital prognostic cardiovascular involvement associated with corneal opacity and D409H mutation inGaucher disease

Anahtar Kelimeler

Gaucher disease, heart, calcification

Kaynakça

• 1. Beutler E, Grabowski GA. Gaucher disease. In: Scriver CR, Beaudet AL, Sly WS, Vale D, Editors. The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill; 2001.p.3635-68.
• 2. Mankin HJ, Trahan CA, Barnett NA, Laughead J, Bove CM, Pastores GM. A questionnaire study for 128 patients with Gaucher disease. Clin Genet 2006;69:209-17.
• 3. George R, McMahon J, Lytle B, Clark B, Lichtin A. Severe valvular and aortic arch calcification in a patient with Gaucher’s disease homozygous for the D409H mutation. Clin Genet 2001;59:360-3.
• 4. Bohlega S, Kambouris M, Shahid M, Al Homsi M, Al Sous W. Gaucher disease with oculomotor apraxia and cardiovascular calcification (Gaucher type IIIc). Neurology 2000;55:741-2.
• 5. Brautbar A, Abrahamov A, Hadas-Halpern I, Elstein D, Zimran A. Gaucher disease in Arab patients at an Israeli referral clinic. Isr Med Assoc J 2008;10:600-2.
• 6. Pasmanik-Chor M, Laadan S, Elroy-Stein O, Zimran A, Abrahamov A, Gatt S et al. The Glucocerebrosidase D409H Mutation in Gaucher Disease. Biochem Mol Med 1996;59:125-33.
• 7. Emre S, Gürakan F, Yüce A, Rolf A, Scott R, Özen H. Molecular analysis of Turkish Gaucher disease patients: Identification of novel mutations in glucocerebrosidase (GBA) gene. Eur J Med Genet 2008;51:315-21.
• 8. Ezgu F, Hasanoglu A, Okur I, Biberoglu T, Eminoglu T, Dogan H. Rapid screening of 10 common mutations in Turkish Gaucher patients using electronic DNA microarray. Blood Cells Mol Dis 2008;40:246-7.
• 9. Abrahamov A, Elstein D, Gross-Tsur V, Farber B, Glaser Y, Hadas-Halpern I, et al. A new Gaucher disease variant characterized by progressive calcification of heart valves and an unique genotype. Lancet 1995;346:1000-3.