Levy-Lahad E, Zimran A
Medical Genetic Services, Shaare-Zedek Medical Center, Jerusalem, Israel.
Baillieres Clin Haematol. 1997 Dec;10(4):779-92. doi: 10.1016/s0950-3536(97)80040-6.
Genetic counselling for Gaucher's disease requires a comprehensive approach, including accurate diagnosis at both the enzymatic and molecular levels, and assessment of disease severity. These goals are particularly challenging given the great allelic and phenotypic heterogeneity encountered in this disorder. Counselling should address the specific concerns of the counsellee, which may be related to evaluation of an affected person, or to reproductive options in couples at risk. Advances in both diagnosis and treatment have led to increased ascertainment of cases and carriers through population based screening, rather than through affected probands, raising new ethical and medical dilemmas. This chapter outlines practical issues in counselling for the various forms of Gaucher's disease, based on current data and experience.
戈谢病的遗传咨询需要一种全面的方法，包括在酶学和分子水平上进行准确诊断，以及评估疾病严重程度。鉴于这种疾病存在巨大的等位基因和表型异质性，实现这些目标极具挑战性。咨询应解决被咨询者的具体担忧，这些担忧可能与对患者的评估有关，或与有风险夫妇的生殖选择有关。诊断和治疗方面的进展导致通过基于人群的筛查而非通过受影响的先证者来增加病例和携带者的确诊率，这引发了新的伦理和医学困境。本章根据当前数据和经验概述了各种类型戈谢病咨询中的实际问题。
