Cystic fibrosis case diagnosed in adulthood with recurrent pancreatitis

Öz

Cystic fibrosis is an autosomal recessively inherited hereditary disease seen in the Caucasian race. As a result of different mutations in the gene "cystic fibrosis transmembrane regulating protein", it can cause various clinical pictures from mild to severe. Nineteen-year-old male patient was admitted to our outpatient clinic with complaints of abdominal pain, diarrhea, and inability to gain weight. The patient's malnutrition, admission to diarrhea, and recurrent pancreatitis attacks made us suspect that he could have cystic fibrosis. In our case, the sweat test was found to be at a high level. Cystic fibrosis gene analysis was found to be positive. The case is presented in order to keep cystic fibrosis in mind in patients with recurrent pancreatitis, to emphasize that the symptoms can start at a later age and that the diagnosis is easy.

Anahtar Kelimeler

• cystic fibrosis
• recurrent pancreatitis
• adult

Tekrarlayan pankreatit ile erişkin dönemde tanı alan kistik fibrozis olgusu

Öz

Kistik fibrozis beyaz ırkta görülen otozomal resesif geçişli kalıtsal hastalıktır.“Kistik fibrozis transmembran düzenleyen protein” genindeki değişik mutasyonlar sonucunda hafiften ağıra çeşitli klinik tablolara yol açabilir. On dokuz yaşında erkek hasta karın ağrısı ,ishal,kilo alamama şikayeti ile polikliniğimize başvurdu. hastanın malnutrisyonu olması,ishalle başvurması,tekrarlayan pankreatit atakları olması bizi kistik fibrosiz olabileciğine düşündürdü.Olgumuzda ter testi yüksek düzeyde saptandı. Kistik fibroz gen analizi pozitif bulundu. Olgu tekrarlayan pankreatitli hastalarda kistik fibrozisin akılda tutulması, semptomların geç yaşta başlayabileceği ve tanısının kolay olduğunu vurgulamak amacıyla sunulmuştur.

Anahtar Kelimeler

• kistik fibrosiz
• tekrarlayan pankreatit
• erişkin

Kaynakça

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