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Clinical features and accompanying findings of Pseudo‐Bartter Syndrome in cystic fibrosis

2020; Wiley; Volume: 55; Issue: 8 Linguagem: Inglês

10.1002/ppul.24805

8755-6863

Tuğba Şişmanlar Eyüboğlu, Deni̇z Doğru, Erkan Çakır, Nazan Çobanoğlu, Sevgi Pekcan, Güzin Cinel, Ebru Yalçın, Nural Ki̇per, Velat Şen, Hadice Selimoğlu Şen, Ömür Ercan, Özlem Keskin, Sevgi Bilgiç Eltan, Lina Alshadfan, Hakan Yazan, Derya Ufuk Altıntaş, Ayşe Şenay Şaşihüseyinoğlu, Nihat Sapan, Şükrü Çekiç, Haluk Çokuğraş, Ayşe Ayzıt Kılınç, Tuğba Ramaslı Gürsoy, Ayşe Tana Aslan, Ayşen Bingöl, Abdurrahman Erdem Başaran, Ali Özdemir, Mehmet Köse, Melih Hangül, Nagehan Emiralioğlu, Gökçen Dilşa Tuğcu, Hasan Yüksel, Özge Yılmaz, Fazıl Orhan, Zeynep Gökçe Gayretli Aydın, Erdem Topal, Zeynep Tamay, Ayşe Süleyman, Demet Can, Cem Murat Bal, Gönül Çaltepe, Uğur Özçelik,

Genomics and Rare Diseases

Abstract Background Pseudo‐Bartter syndrome (PBS) is a rare complication of cystic fibrosis (CF) and there are limited data in the literature about it. We aimed to compare clinical features and accompanying findings of patients with PBS in a large patient population. Methods The data were collected from the Cystic Fibrosis Registry of Turkey where 1170 CF patients were recorded in 2017. Clinical features, diagnostic test results, colonization status, complications, and genetic test results were compared in patients with and without PBS. Results Totally 1170 patients were recorded into the registry in 2017 and 120 (10%) of them had PBS. The mean age of diagnosis and current age of patients were significantly younger and newborn screening positivity was lower in patients with PBS ( P < .001). There were no differences between the groups in terms of colonization status, mean z‐scores of weight, height, BMI, and mean FEV 1 percentage. Types of genetic mutations did not differ between the two groups. Accompanying complications were more frequent in patients without PBS. Conclusion PBS was detected as the most common complication in the registry. It could be due to warm weather conditions of our country. It is usually seen in younger ages regardless of mutation phenotype and it could be a clue for early diagnosis of CF.