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Sağlam Çocuk mu? Hasta mı? Psödo-Bartter Sendromu

Pseudo-Bartter Syndrome in a Previously Healthy Child: Cystic Fibrosis

Journal Name:

  • Türk Nefroloji, Diyaliz ve Transplantasyon Dergisi

Publication Year:

  • 2005

Key Words:

Keywords (Original Language):

Author NameUniversity of AuthorFaculty of Author
Abstract (2. Language): 
Cystic fibrosis (CF) is an autosomal recessive disease affecting exocrine glands and frequently presenting with respiratory and gastrointestinal symptoms. Acute dehydration with hypokalemia and metabolic alkalosis is a well-known clinical form of CF reported in infancy but it is not reported in older children. A healthy 5-year-old boy with no previous respiratory and gastrointestinal symptoms but recurrent hypokalemic dehydration and metabolic alkalosis is presented. Repeated sweat tests performed on two occasions revealed high sweat chloride concentrations confirming the diagnosis of CF.
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Abstract (Original Language): 
Kistik fibroz (KF) eksokrin bezlerin fonksiyonunu etkileyen otozomal resesif geçişli bir hastalıktır. Sıklıkla solunum yolu ya da gastrointestinal semptomlar ile ortaya çıkar. Hipokalemik metabolik alkaloz ile seyreden akut dehidratasyon KF'nin bilinen bir klinik başvuru şekli olmasına karşın sadece süt çocukluğu döneminde bildirilmektedir. Bu yazıda, daha önce hiçbir sağlık sorunu olmayan beş yaşında bir çocuğun yineleyen hipokalemik metabolik alkaloz atakları sonrası ter testi ile KF tanısı alması sunulmuştur.
FULL TEXT (PDF): 
PDF icon pdf_tndt_549.pdf
  • 4
202-204
  • Turkish

REFERENCES

References: 

1. Shalon LB, Adelson JW. Cystic fibrosis. Gastrointestinal complications and gene therapy. Pediatr Clin North Am 1996;43(1): 157-196
2. Mickle JE, Cutting GR. Genotype-phenotype relationships in cys¬tic fibrosis. Med Clin North Am 2000;84(3):597-607.
3. Boucher RC, Knowles MR, Yankaskas JR. Cystic fibrosis. In: Mason: Murray and Nadel's Textbook of Respiratory Medicine, WB Saunders 2005, pp 1212-1239.
4. Berard E, Maillotte AM, Albertini M, Delalandre E, Boutte P, Ma-riani R. Cystic fibrosis revealed by dehydration with hypochloro-natremic alkalosis in 3 infants and a neonate. Arch Pediatr 1994; 1(1):42-5.
5. Fustik S, Pop-Jordanova N, Slaveska N, Koceva S, Efremov G. Metabolic alkalosis with hypoelectrolytemia in infants with cys¬tic fibrosis. Pediatr Int 2002;44(3):289-92.
6. Mauri S, Pedroli G, Rudeberg A, Laux-End R, Monotti R, Bianc-hetti MG. Acute metabolic alkalosis in cystic fibrosis: prospecti¬ve study and review of the literature. Miner Electrolyte Metab 1997;23(1):33-7.
7. Pah CG. Metabolic acid-base disturbances. In: Kher KK, Makker SP (eds), Clinical Pediatric Nephrology, McGraw-Hill Book Co, 1992, Singapore, pp. 643-63.
8. Rommens JM, Iannuzzi MC, Kerem BS, et al. Identification of the cystic fibrosis gene: Chromosome walking and jumping. Science 1989;1059-1065.
9. Morales MM, Falkenstein D, Lopes AG. The cystic fibrosis trans-membrane regulator (CFTR) in the kidney. An Acad Bras Ci 2000;72:399-406.
10. Bates CM, Baum M, Quigley R. Cystic fibrosis presenting with hypokalemia and metabolic alkalosis in a previously healthy adolescent. J Am Soc Nephrol 1997;8(2):352-5.
11. Ozcelik U, Gocmen A, Kiper N, Coskun T, Yılmaz E, Ozguc M. Sodium chloride deficiency in cystic fibrosis patients. Eur J Pediatr 1994;153:829-31.
12. Stenvinkel P, Hjelte L, Alvan G, Hedman A, Hultman E, Strand-vik B. Decreased renal clearance of sodium in cystic fibrosis. Acta Pediatr Scand 1991;80:194-8.
13. Donckerwolke RA, van Dieman-Steenvoorde R, van der Laag J, Koomans HA, Boer WH. Impaired diluting segment chloride re-absorption in patients with cystic fibrosis. Child Nephrol Urol 1992;12:186-191.
14. Stephens SE, Rigden SPA. Cystic fibrosis and renal disease. Pa-ediatr Respir Rev 2002;3(2):135-8.
15. Castile R, Shwachman H, Travis W, Hadley CA, Warwick W, Missmahl HP. Amiloidosis as a complication of cystic fibrosis. Am J Dis Child 1985;139(7):728-32.
16. Abramowsky CR, Swinehart GL. The nephropathy of cystic fibrosis: a human model of chronic nephrotoxicity. Hum Pathol 1982;13(10):934-9.
17. Melzi ML, Constantini D, Giani M, Appiani AC, Giunta AM. Severe nephropathy in three adolescents with cystic fibrosis. Arch Dis Child 1991;66(12):1444-7.
18. Gibney EM, Goldfarb DS. The association of nephrolithiasis with cystic fibrosis. Am J Kidney Dis 2003;42(1):1-11.
19. Hoffmann IM, Rubin BK, Iskandar SS, Schechter MS, Nagaraj SK, Bitzan MM. Acute renal failure in cystic fibrosis: association with inhaled tobramycin therapy. Pediatr Pulmonol 2002;34(5):375-7.
20. Bohles H, Gebhardt B, Beeg T, Sewell AC, Solem E, Posselt G. Antibiotic treatment induced tubular dysfunction as a risk factor for renal stone formation in cystic fibrosis. J Pediatr 2002;140(1):103-9.
21. Beckerman RC, Taussig LM. Hypoelectrolytemia and metabolic alkalosis in infants with cystic fibrosis. Pediatrics 1979;63(4):
580-3.
22. Salvatore D, Tomaiuolo R, Abate R, et al. Cystic fibrosis presen¬ting as metabolic alkalosis in a boy with the rare D579G mutati¬on. J Cyst Fibros 2004;3:135-6.
23. Padoan R, Bassotti A, Seia M, Ambrosioni A, Fiori S. A novel mis-sense mutation (D110E) in exon 4 of CFTR (ABCC7) in a CF in¬fant presenting with hypochloraemic metabolic alkalosis. Hum Mutat 2000;15(5):485.
24. Weller F, Wiebicke W, Tummler 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.
25. Leoni GB, Pitzalis S, Tonelli R, Cao A. Identification of a novel mutation (S13F) in the CFTR gene in a CF patient of Sardinian origin. Hum Mutat 1998;11(4):337.
26. Saner G, Süoğlu Ö. Eksokrin pankreas hastalıkları. In: Neyzi O, Ertuğrul T (eds), Pediatri 2, Nobel Tıp Kitabevi 2002, 3. baskı, s.
804-19.

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