Westfal Maggie L, Goldstein Allan M
aDepartment of Surgery bDepartment of Pediatric Surgery, Massachusetts General Hospital, Harvard Medical School cCenter for Neurointestinal Health, Massachusetts General Hospital, Boston, Massachusetts, USA.
Curr Opin Pediatr. 2017 Jun;29(3):347-353. doi: 10.1097/MOP.0000000000000486.
Neurointestinal diseases are increasingly recognized as causes of significant gastrointestinal morbidity in children. This review highlights the most common pediatric enteric neuropathies and their diagnosis and management, emphasizing insights and discoveries from the most recent literature available.
The embryologic and histopathologic causes of enteric neuropathies are varied. They range from congenital aganglionosis in Hirschsprung disease, to autoimmune-mediated loss of neuronal subtypes in esophageal achalasia and Chagas disease, to degenerative neuropathies in some cases of chronic intestinal pseudo-obstruction and gastroparesis. Increased awareness of the clinical presentation and diagnostic evaluation of these conditions is essential as it allows for earlier initiation of treatment and improved outcomes. Most current therapies, which include medical management, neurostimulation, and operative intervention, aim to minimize the symptoms caused by these conditions. The evidence base for many of these treatments in children is poor, and multiinstitutional prospective studies are needed. An innovative therapy on the horizon involves using neuronal stem cell transplantation to treat the underlying disorder by replacing the missing or damaged neurons in these diseases.
Although recent advances in basic and clinical neurogastroenterology have significantly improved our awareness and understanding of enteric neuropathies, the efficacy of current treatment approaches is limited. The development of novel therapies, including pharmacologic modulators of neurointestinal function, neurostimulation to enhance gut motility, and neuronal cell-based therapies, is essential to improve the long-term outcomes in children with these disorders.
神经肠道疾病日益被认为是儿童胃肠道严重发病的原因。本综述重点介绍了最常见的儿科肠道神经病变及其诊断和管理，强调了从现有最新文献中获得的见解和发现。
肠道神经病变的胚胎学和组织病理学原因多种多样。从先天性巨结肠症中的先天性神经节细胞缺失，到食管失弛缓症和恰加斯病中自身免疫介导的神经元亚型丧失，再到某些慢性肠道假性梗阻和胃轻瘫病例中的退行性神经病变。提高对这些疾病临床表现和诊断评估的认识至关重要，因为这有助于更早开始治疗并改善预后。目前大多数治疗方法，包括药物治疗、神经刺激和手术干预，旨在尽量减轻这些疾病引起的症状。许多针对儿童的此类治疗的证据基础薄弱，需要多机构前瞻性研究。即将出现的一种创新疗法是利用神经元干细胞移植，通过替代这些疾病中缺失或受损的神经元来治疗潜在疾病。
尽管基础和临床神经胃肠病学的最新进展显著提高了我们对肠道神经病变的认识和理解，但目前治疗方法的疗效有限。开发新的疗法，包括神经肠道功能的药物调节剂、增强肠道蠕动的神经刺激以及基于神经元细胞的疗法，对于改善这些疾病患儿的长期预后至关重要。
