Institute of Biophysics, National Research Council, Via De Marini, 6, 16149, Genoa, Italy.
Department of Translational Medicine, University of Ferrara, Ferrara, Italy.
Dig Dis Sci. 2023 Oct;68(10):3857-3871. doi: 10.1007/s10620-023-08066-1. Epub 2023 Aug 31.
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.
内脏肌病是一种罕见的、危及生命的疾病，60%的病例与已确定的基因突变有关。由于对其发病机制缺乏了解，目前还缺乏有效的治疗方法。这种疾病最常见于儿童，表现为反复发作或持续存在的功能性肠梗阻，可能危及生命，往往需要长期肠外或专门的肠内营养支持。虽然这些干预措施无疑是救命的，因为它们可以使受影响的个体避免营养不良和相关并发症，但它们也严重影响了他们的生活质量，并可能导致败血症和血栓形成。内脏肌病的动物模型很少，这对于推进对这种疾病的科学认识可能至关重要。显然，需要建立一个合作网络来制定研究计划，以阐明基因型-表型相关性，并揭示分子机制，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”的总结报告。该论坛由一个国际跨学科工作组参加，该工作组开会是为了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治疗内脏肌病患者的临床医生之间的互动。
