Maire I
Service de Biochimie Pédiatrique, Hôpital Debrousse, Lyon, France.
J Inherit Metab Dis. 2001;24 Suppl 2:57-61; discussion 45-6. doi: 10.1023/a:1012419823739.
Understanding the relationship between genotype and clinical phenotype will clearly aid in the prognosis, treatment and counselling of patients with lysosomal storage diseases (LSDs). This, however, will require the establishment of widely accepted indices with which to score the severity of LSDs, as these diseases are characterized by their marked clinical heterogeneity. Even in the complete absence of a functional enzyme, presentation may be variable, depending on the patient's genetic background and on a range of epigenetic and environmental factors. Further difficulties in predicting disease severity and progression from the genotype arise from the rarity of these disorders, the low enzyme levels required for a normal phenotype and the relative lack of understanding of the pathophysiology of LSDs.
了解基因型与临床表型之间的关系无疑将有助于溶酶体贮积症（LSDs）患者的预后、治疗及咨询。然而，这需要建立广泛认可的指标来对LSDs的严重程度进行评分，因为这些疾病具有显著的临床异质性。即使完全缺乏功能性酶，临床表现也可能因患者的遗传背景以及一系列表观遗传和环境因素而有所不同。由于这些疾病罕见、正常表型所需的酶水平较低以及对LSDs病理生理学的了解相对不足，从基因型预测疾病严重程度和进展存在进一步困难。
