Megacystis微结肠肠蠕动综合征(MMIHS)是一种罕见的遗传性疾病,以常染色体隐性遗传模式遗传,会影响膀胱和肠道的肌肉。与MMIHS突变相关的最常见的基因是ACTG2,LMOD1,MYH11,MYL9,MYLK,和PDCL3。然而,MMIHS的完整遗传格局仍需充分了解。MMIHS的诊断可能具有挑战性。然而,产前和诊断技术的进步,如超声波和胎儿尿液分析,提高了早期发现该综合征的能力。靶向下一代测序(NGS)和其他诊断测试也可以诊断MMIHS。MMIHS的管理涉及解决严重的肠道动力障碍,这通常需要全胃肠外营养(TPN),这可能导致并发症,如肝毒性和营养缺乏。多内脏和肠道移植已成为治疗选择,提供改善结果和肠内自主性的潜力。了解MMIHS的遗传基础对于个性化护理至关重要。虽然预后各不相同,及时的干预和仔细的监测可提高患者的治疗效果.遗传研究为我们提供了对MMIHS分子机制的宝贵见解。这些研究已经确定了涉及平滑肌细胞发育和功能的基因中的突变。他们还表明MMIHS与控制肌肉收缩的信号通路的缺陷有关。对MMIHS遗传学的持续研究有望解开MMIHS的复杂性并改善受影响个体的生活。
Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is an uncommon genetic disorder inherited in an autosomal recessive pattern that affects the muscles that line the bladder and intestines. The most common genes associated with MMIHS mutations are ACTG2, LMOD1, MYH11, MYL9, MYLK, and PDCL3. However, the complete genetic landscape of
MMIHS still needs to be fully understood. The diagnosis of
MMIHS can be challenging. However, advances in prenatal and diagnostic techniques, such as ultrasound and fetal urine analysis, have improved the ability to detect the syndrome early. Targeted next-generation sequencing (NGS) and other diagnostic tests can also diagnose MMIHS. The management of MMIHS involves addressing severe intestinal dysmotility, which often necessitates total parenteral nutrition (TPN), which can lead to complications such as hepatotoxicity and nutritional deficiencies. Multivisceral and intestinal transplantation has emerged as therapeutic options, offering the potential for improved outcomes and enteral autonomy. Understanding the genetic underpinnings of
MMIHS is crucial for personalized care. While the prognosis varies, timely interventions and careful monitoring enhance patient outcomes. Genetic studies have given us valuable insights into the molecular mechanisms of
MMIHS. These studies have identified mutations in genes involved in the development and function of smooth muscle cells. They have also shown that MMIHS is associated with defects in the signaling pathways that control muscle contraction. Continued research in the genetics of
MMIHS holds promise for unraveling the complexities of
MMIHS and improving the lives of affected individuals.