Pulmonary complications of type 1 neurofibromatosis

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• 作者：L. Reviron-Rabec^a ; ^b ; B. Girerd^d ; ^e ; ^f ; A. Seferian^d ; ^e ; ^f ; K. Campbell^a ; ^b ; S. Brosseau^a ; ^b ; E. Bergot^a ; ^b ; ^c ; M. Humbert^d ; ^e ; ^f ; G. Zalcman^a ; ^b ; ^g ; D. Montani^d ; ^e ; ^f ; ^{david.montani@aphp.fr" class="auth_mail" title="E-mail the corresponding author}
• 关键词：Neurofibromatosis type 1 ; Von Recklinghausen ; Interstitial lung disease ; Lung cancer ; Pulmonary hypertension
• 刊名：Revue des Maladies Respiratoires
• 出版年：2016
• 出版时间：June 2016
• 年：2016
• 卷：33
• 期：6
• 页码：460-473
• 全文大小：4664 K

文摘

Type 1 neurofibromatosis is one of the most common genetic diseases, with an incidence of 1/3500 live births. Its diagnosis primarily relies on the clinical features of the condition.

Current knowledge

The life expectancy of these patients is reduced by 10 years, on average, compared to the general population. Type 1 neurofibromatosis has been shown to increase the risk of various types of neoplasia, primarily those affecting the neural crest. In addition, interstitial lung disease, lung cancer, and pulmonary hypertension have been observed during the third or the fourth decade of an adult's life.

Perspectives

There are only few case reports available that address the pulmonary complications of neurofibromatosis type 1. It is thus crucial to fully understand this rare disease and its potential complications in order to allow for early diagnosis so we are able to improve the quality of life and survival of those suffering from the condition.

Conclusions

The pulmonary complications of type 1 neurofibromatosis can be severe and life-threatening. Patients with this condition should thus undergo regular clinical visits and examinations to allow pulmonary complications to be detected and treatment to be initiated as early as possible.