1887
Volume 2004, Issue 1
  • ISSN: 0253-8253
  • E-ISSN: 2227-0426

Abstract

An Egyptian infant with the common CFTR mutation N1303K in exon 21 developed alkalosis, electrolyte disturbance and pancreas insufficiency. The need is emphasized to consider the possibility of cystic fibrosis (CF) in the Arab world. The frequency of N1303K mutation in the Middle East and its distribution are both reviewed.

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2004-06-01
2019-10-23
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References

  1. 1. Collins   FS. . Cystic fibrosis: molecular biology and therapeutic implications. . Science . 1992; ;256: : 774– 876 .
    [Google Scholar]
  2. 2. Stern   M., , Geddes   D. . Cystic fibrosis: basic chemical and cellular mechanisms. . Br J Hosp Med . 1996; ;55: : 237– 240 .
    [Google Scholar]
  3. 3. Tsui   LC. . The cystic fibrosis trans-membrane conductance regulator gene. . Am J Respir Crit Care Med . 1993; ;151: : S47– S53 .
    [Google Scholar]
  4. 4. Cystic Fibrosis Genetic Analysis Consortium CFTR Mutation Tabl, 2002. http://www.genet.sickkids.on.ca/cftr/.
  5. 5. Welsh   MJ., , Tsui   I., , Boat   TF., , Beaudet   AL. . Cystic fibrosis. . In: Scriver   CR., Beaudet   AL., Slys   Valle D. , eds. The Metabolic and Molecular Bases of Inherited Disease . , 7th edition. . New York: : McGraw-Hill;   1995; ; : 3799– 3876 .
    [Google Scholar]
  6. 6. El Harith   EA., , Dork   T., , Stuhmann   M., , Stuhrmann   M., , Abu-Srair   H., , al-Shahri   A., , Keller   K M., , Lentze   MJ., , Schmidtke   J. . Novel and characteristic CFTR mutations in Saudi Arabian children with severe cystic fibrosis. . J Med Genet . 1997; ;34: : 996– 999 .
    [Google Scholar]
  7. 7. Abdul Wahab   A., , Al Thani   G., , Dawod   ST., , Kambouris   M., , Al Hamed   M. . Heterogeneity of the Cystic Fibrosis Phenotype in a Large Kindred Family in Qatar with Cystic Fibrosis Mutation {11234V). . J Trop Pediatr . 2001; ;47: : 110– 112 .
    [Google Scholar]
  8. 8. Rawashdeh   M., , Manal   H. . Cystic fibrosis in Arabs: a prototype from Jordan. . Ann Trop Pediatr . 2000; ;20: 4 : 283– 286 .
    [Google Scholar]
  9. 9. Desgeorges   M., , Megarbane   A., , Guittard   C., , Carles   S., , Loiselet   J., , Demaille   J., , Claustres   M. . Cystic fibrosis in Lebanon: distribution of CFTR mutation among Arab communities. . Hum Genet . 1997; ;100: 2 : 279– 283 .
    [Google Scholar]
  10. 10. Osborne   L., , Knight   R., , Santis   G., , Hodson   ME. . A mutation in the second nucleotide binding fold of the cystic fibrosis gene. . Am J Hum Genet . 1991; ;48: : 608– 612 .
    [Google Scholar]
  11. 11. Ko   YH., , Pedersen   PL:. . The first nucleotide binding fold of cystic fibrosis transmembrane conductance regulator can function as an active ATPase. . J Biol Chem . 1995; ;270: : 22093– 22096 .
    [Google Scholar]
  12. 12. Osborne   L., , Santis   G., , Schwarz   M., , Klinger   K., , Dork   T., , Mcintosh   I., , Nunes   V., , Macek   M Jr., , Reiss   J. , et al. , Incidence and expression of the the N1303K mutation of the cystic fibrosis (CFTR) gene. . Hum Genet.   1992; ;89: 6 : 653– 658 .
    [Google Scholar]
  13. 13. Banjar   H., , Kambouris   M., , Meyer   BF., , Al Mehaidib   A., , Mogarri   I. . Geographic distribution of cystic fibrosis transmembrane regulator gene mutations in Saudi Arabia. . Ann Trop Pediatr . 1999; ;19: : 69– 73 .
    [Google Scholar]
  14. 14. Estivill   X., , Bancells   C., , Ramos   C. . Geographic distribution and regional origin of272 cystic fibrosis mutation in European populations. The Biomed CF Mutations Analysis Consortum. . Hum Mutat . 1997; ;10: 2 : 135– 154 .
    [Google Scholar]
  15. 15. Gottlieb   RP. . Metabolic alkalosis in cystic fibrosis. . J Pediatr . 1971; ;79: : 930– 936 .
    [Google Scholar]
  16. 16. Beckerman   RC., , Taussig   LM. . Hypoelectrolytaemia and mtabolic alkalosis in jnfants with cystic fibrosis. . Pediatrics . 1979; ; : 580– 583 .
    [Google Scholar]
  17. 17. Kessler   WR., , Anderson   DH:. . Heat prostration in fibrocystic disease of the pancreas and other conditions. . Pediatrics . 1951; ;8: : 648 .
    [Google Scholar]
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