title: [Fanconi disease: study of 43 cases in southern Tunisia].
abstract: BACKGROUND
  To report the epidemiologic, clinical, biological features and course of Fanconi's anemia in southern Tunisia.
  
  
  METHODS
  During a period of 12 years we observed 43 cases. For each patient, careful clinical, biological (hemogram, myelogram, bone marrow biopsy, hemoglobin electrophoresis, karyotype) and radiological (skeleton X-rays, abdominal echography and intravenous urography) examinations were performed. All the patients who were at a pancytopenia stage were given androgens. None had a bone marrow allograft.
  
  
  RESULTS
  There were 24 girls and 19 boys. The mean age at diagnosis was 10 years and 9 months. The familial character was present in 53% of the cases. The most frequent initial complaint was anemic syndrome (69%). In ten cases (24%), the diagnosis has been established during a familial investigation. Malformations were present in all cases (abnormal pigmentation: 86%; skeletal maturation retardation: 83%; facial dysmorphy: 76%; statural hypotrophy: 65%; bone abnormalities: 53%; renal malformations: 44%). Anemia was present in 88% of the cases, thrombocytopenia and neutropenia in all cases. Bone marrow was hypoplastic or aplastic in all cases on biopsies. Spontaneous chromosomal breaks were found in 79% of the studied cases. Fetal hemoglobin was increased in 80% of the studied cases with a mean level of 20.5%. Actuarial survival rate at 5 years was 48%, but long survival durations were rare (eight out of 43 patients).
  
  
  CONCLUSIONS
  This disease, rare in the world, seems to be frequent in southern Tunisia. A normal karyotype (with classical techniques), found in five patients, could not discard the diagnosis; for this reason, the use of sensitizing agents should improve the sensitivity of the test. Besides, an increased level of fetal hemoglobin enabled us to suggest the diagnosis in some cases. Androgenotherapy increased the survival duration to more than 5 years in eight patients. However, bone marrow allograft remains the only possibility of cure.
authors.affiliation: Service d'hématologie, CHU Hédi-Chaker, Sousse, Tunisie.
authors.forename: M
authors.initials: M
authors.lastname: Frikha
authors.forename: S
authors.initials: S
authors.lastname: Mseddi
authors.forename: M
authors.initials: M
authors.lastname: Elloumi
authors.forename: M
authors.initials: M
authors.lastname: Bouaziz
authors.forename: A
authors.initials: A
authors.lastname: Khanfir
authors.forename: J
authors.initials: J
authors.lastname: Mnif
authors.forename: A
authors.initials: A
authors.lastname: Saad
authors.forename: T
authors.initials: T
authors.lastname: Souissi
mesh_terms: D000293:Adolescent; D000328:Adult; D045930:Anabolic Agents / Q000008:administration & dosage; D016026:Bone Marrow Transplantation; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D003937:Diagnosis, Differential; D005199:Fanconi Anemia / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D007621:Karyotyping; D008297:Male; D011379:Prognosis; D014416:Tunisia
chemical_list: D045930:Anabolic Agents; D005819:Genetic Markers
vernacular_title: La maladie de Fanconi: étude de 43 cas dans le sud tunisien.