A case report of cystic fibrosis with von Willebrand disease Kistik fibrozis ile von Willebrand hastalığı birlikteliği olan bir olgu sunumu

Yıl 2019, Cilt: 7 Sayı: Ek - IRUPEC 2019 Kongresi Tam Metin Bildirileri, 155 - 158, 10.12.2019

Büşra Özyalvaç , Sevgi Pekcan , Hüseyin Tokgöz

Öz

Cystic fibrosis, is a common genetic disease in the white race with autosomal recessive inheritance. It occurs as a result of a defect in the chlorine channel called CFTR (Cystic Fibrous Transmembrane Regulatory Protein) in the epithelial cell membrane. Clinical findings are heterogeneous in cystic fibrosis due to involvement of more than one system. Lung findings are the most common findings at all age groups. Hemoptysis is not an uncommon complication of lung involvement and usually occurs as a result of the destruction of the airway wall due to infections due to bronchiectasis. Here, we report a case of von willebrand's disease which was followed up for cystic fibrosis and investigated for recurrent minor hemoptysis.

Anahtar Kelimeler

cystic fibrosis

Kaynakça

• References: 1 Romeo G, Devoto M, Galietta LJV. Why is the cystic fibrosis gene so frequent? Hum Genet 1989; 84: 1-5. 2 Kerem B, Rommens JM, Buchanan JA, et al. Identification of the cystic fibrosis gene: genetic analysis. Science 1989; 245: 1073-80. 3 Bobadilla JL, Macek M, Fine JP, Farrell PM. Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening. Hum Mutat 2002; 19: 575-606. 4 Gadsby DC, Vergani P, Csanády L. The ABC protein turned chloride channel whose failure causes cystic fibrosis. Nature 2006; 440: 477-83. 5 Yalçın E. Kistik fibroziste klinik bulgular ve tanı. In: Dağlı E, Karakoç F; eds. Çocuk Göğüs Hastalıkları. İstanbul: Nobel Matbaacılık, 2007; 225-30. 6 Boat TF, Acton JD. Cystic Fibrosis. In: Kliegman RM, BehrmanRE, Jenson HB, Stanton BF; eds. Nelson Textbook of Pediatrics. 18 th ed. Philadelphia: Saunders, 2007; 1813. 7 Rick ME: von Willebrand disease . Hematology 2003, American Society of Hematology Education Program Book. p:567-572.
• 8 RodeghieroF, Castaman G, Dini E. Epidemıological investigation of the prevalence of von Willebrand’s disease. Blood 1987; 69:454. 9 Italian Working Group.Spectrum of von Willebrand disease Br.J.Haematol 1977;35:101. 10 De Meyer, S.F., H. Deckmyn, and K. Vanhoorelbeke, von Willebrand factor to the rescue. Blood, 2009. 113(21): p. 5049-57. 11 Nichols, W.L., et al., Clinical and laboratory diagnosis of von Willebrand disease: a synopsis of the 2008 NHLBI/NIH guidelines. Am J Hematol, 2009. 84(6): p. 366-70. 12 McCormick J, Green MW, Mehta G, Culross F, Mehta A. Demographics of the UK cystic fibrosis population: mplications for neonatal screening. Eur J Hum Genet 2002; 10: 583-90. 13 Rowntree RK, Harris A. The phenotypic consequences of CFTR mutations. Ann Hum Genet 2003; 67: 471-85. 14 De Meyer, S.F., H. Deckmyn, and K. Vanhoorelbeke, von Willebrand factor to the rescue. Blood, 2009. 113(21): p. 5049-57.