Cystic fibrosis presenting as metabolic alkalosis in a boy with the rare D579G mutation (original) (raw)

Abstract

We report on a 10-month-old boy with hypotonic dehydration and metabolic alkalosis. Sweat test was borderline and genetic analysis was negative for common mutations. Analysis of the whole coding regions of the CFTR gene revealed the rare mutation D579G in homozygosity. D

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References (10)

  1. Beckerman RC, Taussig LM. Hypoelectrolytemia and metabolic alkalosis in infants with cystic fibrosis. Pediatrics 1979;63:580 -3.
  2. Nussbaum E, Boat TF, Wood RE, Doershuk CF. Cystic fibrosis with acute hypoelectrolytemia and metabolic alkalosis in infancy. Am J Dis Child 1979;133:965 -6.
  3. Davison AG, Snodgrass GJ. Cystic fibrosis mimicking Bartter's syn- drome. Acta Paediatr Scand 1983;72:781 -3.
  4. Berard E, Maillotte AM, Albertini M, Delalandre E, Boutte P, Mariani R. Cystic fibrosis revealed by dehydration with hypochloronatremic alkalosis in 3 infants and a neonate. Arch Pediatr 1994;1:42 -5.
  5. Sojo A, Rodriguez-Soriano J, Vitoria JC, Vazquez C, Ariceta G, Villate A. Chloride deficiency as a presentation or complication of cystic fibrosis. Eur J Pediatr 1994;153:825 -8.
  6. Leoni GB, Pitzalis S, Podda R, et al. A specific cystic fibrosis muta- tion (T338I) associated with the phenotype of isolated hypotonic dehydration. J Pediatr 1995;127:281 -3.
  7. Padoan R, Bassotti A, Seia M, et al. A novel missense mutation (D110E) in exon 4 of CFTR (ABCC7) in a CF infant presenting with hypochloraemic metabolic alkalosis. Human Mutat 2000;15:485.
  8. Weller F, Wiebicke W, Tummler B. Turkish infant with hypoelec- trolytemia and metabolic alkalosis as the sole manifestations of a mild form of cystic fibrosis (mutation D110H). Klin Padiatr 2000; 212:41 -3.
  9. Picci L, Cameran M, Olante P, Zacchello F, Scarpa M. Identification of a D579G homozygote cystic fibrosis patient with pancreatic suffi- ciency and minor lung involvement. Human Mutat 1999;14:173.
  10. Brancolini V, Cremonesi L, Belloni E, et al. Search for mutations in pancreatic sufficient cystic fibrosis Italian patients: detection of 90% of molecular defects and identification of three new mutations. Human Genet 1995;96:312 -8.