Messner R, Smith M N
J Adv Nurs. 1986 Jul;11(4):459-64. doi: 10.1111/j.1365-2648.1986.tb01273.x.
Neurofibromatosis (NF) or von Recklinghausen's disease is mankind's most common neurologic genetic disorder, occurring in one of every 3000 live births. While many individuals with NF suffer disfiguring, disabling, or life-threatening complications, NF is extremely variable in its symptoms, intensity, and progression. For many of its victims, NF is a pseudonym for uncertainty and physical and psychosocial havoc. John Merrick, 'The Elephant Man', endured one of the most severe cases of NF ever recorded. Merrick's rejection by post-Dickensian England forced him to become a sideshow circus attraction just to survive. The essence of nursing intervention with NF patients and their families engaged in the quest for quality of life is to restore them to optimal physical and psychosocial functioning, and, ideally, to help them utilize the experience for growth. Many individuals respond to the frustration of NF and society's reactions to the disorder by the wearing of psychological masks. Likewise, nurses may wear emotional masks as a defence against their own discomfort and fears concerning the disorders. Comprehensive nursing management of NF is realized only as nurses and patients relinquish their respective masks. This article examines the nurse's role in genetic disorders with special considerations presented by NF. Adaptation to NF involves coping with NF and its accompanying sequelae and coping with life as it is affected by NF. The concepts of 'chromosomal coping', 'genetophobia', 'genetic guilt, and 'genetic overload syndrome' are presented and analyzed utilizing the theoretical nursing frameworks of Imogene King and Sister Callista Roy.
神经纤维瘤病（NF）或冯·雷克林豪森病是人类最常见的神经遗传性疾病，每3000例活产中就有1例发病。虽然许多NF患者会出现毁容、致残或危及生命的并发症，但NF的症状、严重程度和进展差异极大。对许多患者来说，NF是不确定性以及身体和心理社会混乱的代名词。约翰·梅里克，即“象人”，曾忍受过有记录以来最严重的NF病例之一。梅里克被狄更斯时代后的英国社会所排斥，为了生存，他不得不成为马戏团的畸形秀展品。对NF患者及其家人进行护理干预以追求生活质量的核心，是使他们恢复到最佳的身体和心理社会功能状态，理想情况下，帮助他们从这段经历中获得成长。许多人通过戴上心理面具来应对NF带来的挫折以及社会对这种疾病的反应。同样，护士可能也会戴上情感面具，以抵御自己对该疾病的不适和恐惧。只有当护士和患者都摘掉各自的面具时，才能实现对NF的全面护理管理。本文探讨了护士在遗传性疾病中的角色，特别考虑了NF所带来的特殊情况。适应NF包括应对NF及其伴随的后遗症，以及应对受NF影响的生活。本文运用伊莫金·金和卡利斯塔·罗伊修女的理论护理框架，对“染色体应对”“基因恐惧症”“基因罪责”和“基因过载综合征”等概念进行了阐述和分析。
