PDF(Pubmed)
Abstract：
Visceral myopathy is a rare, life-threatening disease linked to identified genetic mutations in 60% of cases. Mostly due to the dearth of knowledge regarding its pathogenesis, effective treatments are lacking. The disease is most commonly diagnosed in children with recurrent or persistent disabling episodes of functional intestinal obstruction, which can be life threatening, often requiring long-term parenteral or specialized enteral nutritional support. Although these interventions are undisputedly life-saving as they allow affected individuals to avoid malnutrition and related complications, they also seriously compromise their quality of life and can carry the risk of sepsis and thrombosis. Animal models for visceral myopathy, which could be crucial for advancing the scientific knowledge of this condition, are scarce. Clearly, a collaborative network is needed to develop research plans to clarify genotype-phenotype correlations and unravel molecular mechanisms to provide targeted therapeutic strategies. This paper represents a summary report of the first \'European Forum on Visceral Myopathy\'. This forum was attended by an international interdisciplinary working group that met to better understand visceral myopathy and foster interaction among scientists actively involved in the field and clinicians who specialize in care of people with visceral myopathy.
摘要：
内脏肌病是一种罕见的，在60％的病例中，威胁生命的疾病与已确定的基因突变有关。主要是由于缺乏对其发病机制的认识，缺乏有效的治疗方法。该疾病最常见于患有功能性肠梗阻的复发性或持续性致残发作的儿童。这可能会危及生命，通常需要长期肠胃外或专门的肠内营养支持。尽管这些干预措施无疑可以挽救生命，因为它们使受影响的个体避免营养不良和相关并发症，他们还严重损害了他们的生活质量，并可能带来败血症和血栓形成的风险。内脏肌病动物模型,这对于提高这种情况的科学知识至关重要，是稀缺的。显然,需要一个协作网络来制定研究计划,以阐明基因型与表型的相关性,并阐明分子机制,从而提供有针对性的治疗策略.本文代表了第一届“欧洲内脏肌病论坛”的摘要报告。国际跨学科工作组参加了该论坛，旨在更好地了解内脏肌病，并促进积极参与该领域的科学家与专门护理内脏肌病患者的临床医生之间的互动。
