酸性鞘磷脂酶治疗高雪氏病的新进展
The treatment of acid sphingomyelinase, the new treatment for Gaucher disease type 3 and the consensus on the management of Parkinson's disease risk in subjects with Gaucher disease.酸性鞘磷脂酶的治疗，19型Gaucher疾病的新治疗方法以及对Gaucher病患者帕金森氏病风险管理的共识。 These are the main news at the center of the annual meeting on Gaucher Disease, which in the year of the health emergency from Covid-7 will be in the form of a webinar, October 13.30 from XNUMX.这些是Gaucher病年度会议中心的主要新闻，在Covid-XNUMX发生卫生紧急事件的那一年，将以网络研讨会的形式在XNUMX月XNUMX日从XNUMX开始。
与之打交道的意大利医学界 高雪氏病 Melissa Wasserstein教授（纽约阿尔伯特·爱因斯坦医学院蒙特菲尔儿童医院儿科遗传医学科）将介绍她在重组寡聚酶α重组酶治疗中的经验。 酸性鞘磷脂酶。
酸性鞘磷脂酶和高雪氏病：新疗法的发现和发展
这种疾病在临床上类似于 戈谢病 但其特点是高脂血症导致肝硬化和心血管疾病的发展。 疗程 和 酶替代疗法 in this case, resolves the accumulation in the liver and spleen and normalizes blood lipid levels by preventing cirrhosis and cardiovascular disease.在这种情况下，可通过预防肝硬化和心血管疾病来解决肝脏和脾脏中的积聚并使血脂水平正常化。 The drug is still in the experimental and patient enrolment phase.该药物仍处于实验和患者招募阶段。
Raphael Schiffmann教授（贝勒斯科特和达拉斯得克萨斯州怀特研究所的首席研究员，高雪氏病和代谢紊乱专家）将介绍他在3型高雪氏病底物抑制剂药物方面的经验数据。
This disease is characterized by neurological impairment associated with the systemic impairment of Gaucher disease type 1. Enzyme replacement therapy and Eliglustat substrate inhibitor therapy are not effective for neurological impairment because they do not pass the blood-brain barrier and therefore do not reach the brain.该疾病的特征在于与3型Gaucher疾病的全身性损害相关的神经系统损害，酶替代疗法和Eliglustat底物抑制剂疗法对神经系统损害无效，因为它们没有通过血脑屏障，因此无法到达大脑。 The new drug is a substrate inhibitor that improves neurological symptoms in patients with Gaucher type XNUMX disease.该新药是一种底物抑制剂，可改善Gaucher XNUMX型疾病患者的神经系统症状。
Alessio Di Fonzo教授将在演讲中报告意大利高雪氏症参考咨询中心的医生在管理帕金森氏病风险方面的共识性结果。 Individuals with Gaucher disease, but also heterozygous individuals or healthy carriers of Gaucher disease, have, compared to the general population, an increased risk of developing Parkinson's disease.与普通人群相比，患有高雪氏病的个体，以及杂合的个体或健康的高雪氏病携带者，患帕金森氏病的风险增加。 The consensus concerns the communication of the risk to patients and family members who are healthy carriers of Gaucher disease, and, from age 40, detection of prodromal signs and symptoms of Parkinson's disease during periodic checks for Gaucher disease.共识涉及将风险传达给健康的高雪氏病患者和家庭成员，以及从XNUMX岁开始定期检查高雪氏病期间检测帕金森氏病的前驱体征和症状。 There is also a score to identify when the subject needs to be referred to the neurologist for treatment and the possible initiation of a specific therapy.还有一个分数可以识别何时需要将患者转介给神经科医生进行治疗以及是否可能开始特定治疗。
Fiorina Giona教授将讨论“注册后研究的经验”，以及Maja Di Rocco博士将讨论“治疗依从性的监测”。
Francesca Carubbi教授将发表题为“ Gaucher和ASMD：具有表型差异的溶酶体疾病”的演讲，而Alberto Burlina教授将发表“诊断和生物标志物”的演讲。 Professor Maurizio Scarpa and Dr Antonio Barbato on “The Italian experience in clinical trials of therapy”.毛里齐奥·斯卡帕（Maurizio Scarpa）教授和安东尼奥·巴巴托（Antonio Barbato）博士谈“意大利在临床治疗试验中的经验”。
会议由Fabio Nascimbeni博士和Elena Corradini教授结束，他们将分别讨论1型高雪氏病的肝溶酶体病和高铁蛋白血症。
简要介绍高雪氏病
Gaucher Disease is a rare condition with a frequency around one in 40,000 people.高雪氏病是一种罕见病，发病率约为XNUMX人。 Due to the deficiency of an enzyme, acid beta-glucosidase, which has the role of degrading a molecule of sphingolipid nature, there is an accumulation of lipids in the cells resulting in a functional disorder of different organs.由于具有降解鞘氨醇性质的分子的酶酸性β-葡糖苷酶的缺乏，脂质在细胞中的积累导致不同器官的功能障碍。 People with this condition present increased spleen and liver volume, haematological alterations (anaemia, platelets with possible bleeding) and bone alterations (osteoporosis, osteonecrosis).患有这种疾病的人的脾脏和肝脏体积增加，血液学改变（贫血，可能出血的血小板）和骨骼改变（骨质疏松，坏死）。 Complications of the disease in untreated patients are multiple myeloma and other hemato-oncological diseases.未经治疗的患者的疾病并发症是多发性骨髓瘤和其他血液肿瘤疾病。 Safe and effective treatment with enzyme replacement if started early makes all clinical manifestations reversible and prevents all complications.如果尽早开始使用酶替代物进行安全有效的治疗，可以使所有临床表现可逆，并可以预防所有并发症。