Cystic fibrosis: a report of 33 pediatric tunisian cases

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Published Dec 15, 2015
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Vol. 93 No. 8 (2015): Issue Aug 2015

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Sonia Halioui-Louhaichi
Amel Ben Chehida
Rim Hassouna
Tayeb Massaoud
Marie Françoise Ben Dridi
Ben Dridi MF
Sihem Barsaoui
Azza Gharbi-Sammoud
Neji Tebib
Ahmed Maherzi

Abstract

SUMMARY
Background: The frequency of cystic fibrosis is unknown in Tunisia, regarding the limited number of reported surveys and patients.
Aim: to determine the clinical characteristics, outcome and genetic data of cystic fibrosis in Tunisian pediatric patients.
Methods: Cases of cystic fibrosis managed at pediatric departments of Tunis, during 15 years (1997-2012), were reviewed.
Results: 33 children (23 males and 10 females) were enrolled. The Onset was within the first year of life in 26 patients. Revealing symptoms were the following: recurrent bronchopneumonia (28 cases), chronic diarrhea (17 cases), hepatomegaly (6 cases), malnutrition (15 cases), pseudo Bartter syndrome (3 cases), edemaanemia- hypoprotidemia (4 cases) and meconium ileus (4 cases). The diagnosis was confirmed by sweat test and genotypic data, the F508 del was the most frequent mutation (17 cases). Several complications had occurred during follow-up: chronic pseudomonas aeruginosa infection (15 cases), chronic respiratory failure (14 cases), recurrent hemoptysis (2 cases), pleural effusion (3 cases) and cirrhosis (2 cases). Ten patients died at a mean age of 7 years. One patient had pulmonary transplantation. Prenatal diagnosis was performed in 9 families.
Conclusion: In Tunisia, cystic fibrosis is not exceptional, but its diagnosis is delayed. Our survey is characterized by more severe earliest forms, difficult and insufficient therapeutic management. A Better medical awareness and a national action plan are needed.

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References

  1. Ravilly S, Le Roux E, Bellis G, Dufour F. Épidémiologie et physiopathologie de la mucoviscidose. Revue Francophone des Laboratoires 2007;397:25-36
  2. Bienvenu T. Les bases moléculaires de l'hétérogénéité phénotypique dans la mucoviscidose. Ann Biol Clin 1997;55:113-22
  3. Ratjen F, Doring G. Cystic fibrosis. Lancet 2003;361:681-9
  4. Voter KZ, Ren CL. Diagnosis of cystic fibrosis. Clin Rev Allergy Immunol 2008;35:100-6
  5. Munck A. Manifestations digestives au cours de la mucoviscidose. Arch Pediatr 2003;10:333-7
  6. Durupt S, Nove Josserand R, Durieu I. Actualité thérapeutique dans la mucoviscidose. Rev Med Interne 2014;35 :388-392
  7. Messaoud T, Bel Haj Fredj S, Bibi A, Elion J, Férec C, Fattoum S. Epidémiologie moléculaire de la mucoviscidose en Tunisie. Ann Biol Clin 2005;63:627-30
  8. Khemiri M, Ben Rhouma A, Bouzid S et al. Particularités cliniques et évolutives de la mucoviscidose. Tun Med 2008;86:567-572
  9. Chaabouni M, Krichen A, Ben Halima N et al. Mucoviscidose chez l'enfant : Expérience d'un service tunisien de pédiatrie générale. Tunis Med 2004;82:516-525
  10. Mariani-Kurkdjian P, Bingen E. Bactéries pathogènes dans la mucoviscidose. Arch Pediatr 2003;10[suppl2]:342s-6s
  11. Lebecque P, Leal T, Zylberg K, Reiychler G, Bossuyt X, Godding V. Towards zero prevalence of chronic Pseudomonas aeruginosa infection in children with cystic fibrosis. J Cyst Fibros 2006; 5:237-244
  12. Máiz L, Girón RM, Olveira C et al. Inhaled antibiotics for the treatment of chronic bronchopulmonary Pseudomonas aeruginosa infection in cystic fibrosis: systematic review of randomised controlled trials. Expert Opin Pharmacother 2013;14:1135-49
  13. Munck A. Quelle démarche diagnostique devant des douleurs abdominales chez le patient atteint de mucoviscidose? Arch Pediatr 2003;10:453-8
  14. Sarles J. Atteinte digestive (pancréatique et intestinale) de la mucoviscidose : approche physiopathologique. Arch Pediatr 2012[suppl 1];19:S20-S22
  15. Gregory PC. Gastrointestinal pH, motility/transit and permeability in cystic fibrosis. J Pediatr Gastroenterol Nutr 1996;23:513-23
  16. Munck A, Navarro J. Prise en charge nutritionnelle de la mucoviscidose à l'âge pédiatrique. Arch Pediatr 2000;7:396-401
  17. Belhaj R, Souissi W, Hadj frej S, Bibi A, Messaoud T. Profil des paramètres biochimiques au cours de la mucoviscidose en Tunisie. Etude prospective de 13 cas. Tun Med 2011; 89:544-47
  18. Kennedy JD, Dinwiddine R, Daman-Willems C, Dillon MJ, Matthew DJ. Pseudo-Bartter's syndrome in cystic fibrosis. Arch Dis Child 1990;65:786-7
  19. Priou-Guesdon M, Malinge MC, Augusto JF et al. Hypochloremia and hyponatremia as the initial presentation of cystic fibrosis in three adults. Ann Endocrinol 2010;71:46-50
  20. Dahabreh MM, Najada AS. Pseudo-bartter syndrome, pattern and correlation with other cystic fibrosis features. Saudi J Kidney Dis Transpl 2013;24:292-6
  21. Colombo C, Battezzati PM, Crosignani A et al. Liver disease in cystic fibrosis: prospective study on incidence, risk factors and outcome. Hepatology 2002;36:1374-82
  22. Debray D. L'atteinte hépatique de la mucoviscidose. Arch Pediatr 2012;19[suppl1]:S23-S26
  23. Hadj Fredj S, Boudaya M, Oueslati S et al. New frameshift CF mutation 3729delAinsTCT in a Tunisian cystic fibrosis patient. J Genet 2013:92;81-83
  24. Tomaiuolo R, Spina M, Castaldo G. Molecular diagnosis of cystic fibrosis: comparison of four analytical procedures. Clin Chem Lab Med 2003; 41:26-32
  25. Bell SC, Bye PT, Cooper PJ et al. Cystic fibrosis in Australia: results from a data registry. Med J Aust 2011;195:396-400
  26. Christie JD, Edwards LB, Kucheryavaya AY et al. The Registry of the International Society for Heart and Lung Trans-plantation: Twenty-eighth Adult Lung and Heart-Lung Transplant Report-2011. J Heart Lung Transplant 2011;30:1104