Kistik Fibrozisli Hastalarda Psödo-Bartter Sendromu

Yıl 2012, Cilt: 6 Sayı: 4, 206 - 210, 01.04.2012

Engin Tutar Perran Boran Sedat Öktem Özben Akıncı Selma İlk Serçin Güven

Öz

Giriş ve Amaç: Psödo-Bartter sendromu (PBS), hipokalemik, hipokloremik metabolik alkaloz ile karakterize klinik bir tablodur. Bartter sendromundan farklı olarak, elektrolit kaybı böbrek dışı yollardan olmaktadır. Kistik fibrozis (KF), pilor stenozu, devamlı gastrik drenaj, siklik kusma, klor kaybettiren diyare ve uygunsuz laksatif kullanımı PBS’ye neden olabilmektedir. KF’li hastalarda PBS, tanı esnasındaki ilk klinik bulgu olabilmekte ya da hastalık sürecinde gelişebilmektedir. Bu çalışmada, KF’li olguların tanı ve izlem sürecinde PBS gelişimi açısından değerlendirilmesi amaçlanmıştır.Gereç ve Yöntemler: Kliniğimiz Çocuk Göğüs Hastalıkları ve Çocuk Gastroenteroloji Polikliniklerinden KF tanısı ile takipli olan hastalar başvuru anında veya takip sürecinde gelişen PBS açısından retrospektif olarak irdelendi. PBS sendromlu hastaların cinsiyetleri, yaş ortalamaları, hastanede yatış süreleri ve biyokimyasal değerleri araştırıldı.Bulgular: İncelenen toplam 17 KF’li vakadan 7’sinde PBS bulundu (%41.2). PBS’li hastaların 4‘ü kız (%57.1) olup, yaş ortalaması 3.1±1.3 ay (1-5 ay)’dı. Beş hastada PBS ilk tanı anında tespit edilirken (%29.4), diğer 2 hastada (%11.7) izlemde gözlendi.Sonuçlar: KF’li hastaların %6.4-16.8 kadarında, ilk başvuru klinik bulgularının PBS şeklinde olduğu bildirilmektedir. Takip etmekte olduğumuz hastalarımızın %41.2’sinde PBS tablosu saptanmış olup, hastaların %29.4’ünde ilk başvuru bulgusu PBS olmuştur. Sonuç olarak PBS tablosu, KF’li hastalarda nadir rastlanan bir klinik tablo olmayıp ayırıcı tanıda mutlaka düşünülmelidir.

Anahtar Kelimeler

Çocuklar, kistik fibrozis, Psödo-Bartter sendromu, metabolik, alkaloz

PSEUDO-BARTTER’S SYNDROME IN PATIENTS WITH CYSTIC FIBROSIS

Öz

Background: Pseudo-Bartter’s syndrome (PBS) is a clinical entity characterized by hypokalemia, hypochloremia associated with metabolic alkalosis. It is different from Bartter’s syndrome, in which hypokalemic metabolic alkalosis may develop without primary renal disease. Cystic fibrosis (CF), pyloric stenosis, continuous gastric drainage, cyclic vomiting, chloride loosing diarhea, and inappropriate laxative use can cause PBS. PBS can be an initial manifestation of CF or develops during follow-up of CF. Aim: In this study, we aimed to evaluate patients with CF with respect to the development of PBS during diagnosis and follow-up period.Methods: Patients with CF who were following up in our pediatric pulmonology and gastroenterology departments were evaluated with respect to PBS diagnosed at the beginning or during the course of the disease. Patients’ demographic characteristics, duration of hospitalization, and biochemical values were presented. Results: PBS was diagnosed in 7 (41.2%) of the total 17 patients with CF. Four were girls (57.1%) and the mean age was 3.1±1.3 months (1-5 months). While, 5 (29.4%) out of 7 patients were diagnosed as PBS at diagnosis of CF, 2 (11.7%) developed PBS during follow up. Conclusion: PBS as the initial manifestation of CF has been reported in 6.4-16.8% of patients with CF. PBS has been detected in 41.2% in our patients, and PBS has been the initial manifestation in 29.4% of our patients. In conclusion, PBS is not a rare clinical picture and it should be considered in the evaluation of patients with CF

Anahtar Kelimeler

Children, cystic fibrosis, Pseudo-Bartter’s syndrome, metabolic, alkalosis

Kaynakça

• Boat TF, Acton JD. Cystic Fibrosis. In:Kliegman RM, Behrman RE, Jenson HB, Stanton BF (eds). Nelson Textbook of Pediatrics. 18th ed. Philadelphia:Saunders Elsevier 2007:1803-17.
• Gyi KM. Other system disorders in cystic fibrosis. In:Hodson M, Geddes D (eds). Cystic Fibrosis. 3th ed. London:Arnold 2007:269- 77.
• Yalçin E, Kiper N, Doğru D, Ozçelik U, Aslan AT. Clinical features and treatment approaches in cystic fibrosis with pseudo-Bartter syndrome. Ann Trop Paediatr 2001;25(2):119-24.
• Rawashdeh M, Manal H. Cystic fibrosis in Arabs: a prototype from Jordan. Ann Trop Paediatr 2000;20(4):283-6.
• Kennedy JD, Dinwiddie R, Daman-Willems C, Dillon MJ, Mat- thew DJ. Pseudo-Bartter’s syndrome in cystic fibrosis. Arch Dis Child 1990;65(7):786-7.
• Devlin J, Beckett NS, David TJ. Elevated sweat potassium, hyper- aldosteronism and pseudo-Bartter’s syndrome: a spectrum of dis- orders associated with cystic fibrosis. J R Soc Med 1989;82(Supp 16):38-43.
• Fustik S, Pop-Jordanova N, Slaveska N, Koceva S, Efremov G. Metabolic acidosis with hypoelectrolytemia in infants with cystic fibrosis. Pediatr Int 2002;44(3): 289-92.
• Weller F, Wiebicke W, Tümmler B. Turkish infant with hypo- electrolytemia and metabolic alkalosis as the sole manifestations of a mild form of cystic fibrosis (mutation D110H). Klin Padiatr 2000;212(1):41-3.
• Ballestero Y, Hernandez MI, Rojo P, Manzanares J, Nebreda V, Carbajosa H. Hyponatremic dehydration as a presentation of cystic fibrosis. Pediatr Emerg Care 2006;22(11):725-7.
• Nahida el-R, Mohammed H, Guy L. Pseudo-Bartter’s syndrome revealing cystic fibrosis in an infant caused by 3849+1G>A and 4382delA compund heterozygosity. Acta Pediatrica 2011;100(11):e234-5.
• Coakley RD, Boucher RC. Pathophysiology:epithelial cell biol- ogy and ion channel function in the lung, sweat gland and pan- creas. In:Hodson M, Geddes D (eds). Cystic Fibrosis. 3th ed. London:Arnold, 2007:59-68.
• Wallis C. Diagnosis of cystic fibrosis. In:Hodson M, Geddes D (eds). Cystic Fibrosis. 3th ed. London: Arnold 2007:99-108.