|
|||||
|
|
Osteogenesis imperfecta: the audiological phenotype lacks correlation with the genotype |
|
| Authors: | Freya KR Swinnen Paul J Coucke Anne M De Paepe Sofie Symoens Fransiska Malfait Filomena V Gentile Luca Sangiorgi Patrizia D’Eufemia Mauro Celli Ton JTM Garretsen Cor WRJ Cremers Ingeborg JM Dhooge Els MR De Leenheer |
| Affiliation: | 1. AP-HP, H?pital Henri-Mondor, Service de Dermatologie, F-94010, Créteil, France 2. Université Paris Est, F-94010, Créteil, France 3. AP-HP, H?pital Henri-Mondor, P?le Recherche Clinique-Santé Publique, F-94010, Créteil, France 5. Université Paris Est, LIC EA4393 (Laboratoire d’Investigation Clinique), F-94010, Créteil, France 4. AP-HP, H?pital Henri-Mondor, Centre de référence des Neurofibromatoses, F-94010, Créteil, F-94010, France 6. Unité Recherche Clinique, AP-HP, H?pital Henri-Mondor, F-94010, Créteil, France 7. Université Paris Est, INSERM, Centre d’Investigation Clinique 006, F-94010, Créteil, France 8. AP-HP, H?pital Necker-Enfants Malades, Service de Dermatologie, Centre de référence des Maladies Génétiques à Expression CutanéeF-75743 Paris, Université Paris-Descartes, Paris, France 9. AP-HP, H?pital Necker-Enfants Malades, Service d’Orthopédie, F-75743, Paris, France 10. AP-HP, H?pital Necker-Enfants Malades, Service de Génétique, F-75743, Paris, France 11. AP-HP, H?pital Necker-Enfants Malades, Service de Neurochirurgie, Paris, F-75743, France 12. AP-HP, H?pital Trousseau, Service de Neuropédiatrie, Paris, F-75571, France 13. Université Pierre et Marie Curie, Paris, France |
| Abstract: | BackgroundNeurofibromatosis 1 (NF1), a common autosomal dominant disorder, was shown in one study to be associated with a 15-year decrease in life expectancy. However, data on mortality in NF1 are limited. Our aim was to evaluate mortality in a large retrospective cohort of NF1 patients seen in France between 1980 and 2006.MethodsConsecutive NF1 patients referred to the National French Referral Center for Neurofibromatoses were included. The standardized mortality ratio (SMR) with its 95% confidence interval (CI) was calculated as the ratio of observed over expected numbers of deaths. We studied factors associated with death and causes of death.ResultsBetween 1980 and 2006, 1895 NF1 patients were seen. Median follow-up was 6.8 years (range, 0.4-20.6). Vital status was available for 1226 (65%) patients, of whom 1159 (94.5%) survived and 67 (5.5%) died. Overall mortality was significantly increased in the NF1 cohort (SMR, 2.02; CI, 1.6-2.6; P < 10-4). The excess mortality occurred among patients aged 10 to 20 years (SMR, 5.2; CI, 2.6-9.3; P < 10-4) and 20 to 40 years (SMR, 4.1; 2.8-5.8; P < 10-4). Significant excess mortality was found in both males and females. In the 10-20 year age group, females had a significant increase in mortality compared to males (SMR, 12.6; CI, 5.7-23.9; and SMR, 1.8; CI, 0.2-6.4; respectively). The cause of death was available for 58 (86.6%) patients; malignant nerve sheath tumor was the main cause of death (60%).ConclusionsWe found significantly increased SMRs indicating excess mortality in NF1 patients compared to the general population. The definitive diagnosis of NF1 in all patients is a strength of our study, and the high rate of death related to malignant transformation is consistent with previous work. The retrospective design and hospital-based recruitment are limitations of our study. Mortality was significantly increased in NF1 patients aged 10 to 40 years and tended to be higher in females than in males. |
| Keywords: | |
| 本文献已被 SpringerLink 等数据库收录！ | |