Abstract：
Congenital diarrhea and enteropathies (CODEs) constitute a group of rare genetic disorders characterized by severe diarrhea and malabsorption in the neonatal period or early infancy. Timely diagnosis and treatment is essential to prevent life-threatening complications, including dehydration, electrolyte imbalance, and malnutrition. This review offers a simplified approach to the diagnosis of CODEs, with a specific focus on microvillus inclusion disease (MVID), congenital tufting enteropathy (CTE), congenital chloride diarrhea (CLD), and congenital sodium diarrhea (CSD). Patients with CODEs typically present with severe watery or occasionally bloody diarrhea, steatorrhea, dehydration, poor growth, and developmental delay. Therefore, it is crucial to thoroughly evaluate infants with diarrhea to rule out infectious, allergic, or anatomical causes before considering CODEs as the underlying etiology. Diagnostic investigations for CODEs encompass various modalities, including stool tests, blood tests, immunological studies, endoscopy and biopsies for histology and electron microscopy, and next-generation sequencing (NGS). NGS plays a pivotal role in identifying the genetic mutations responsible for CODEs. Treatment options for CODEs are limited, often relying on total parenteral nutrition for hydration and nutritional support. In severe cases, intestinal transplantation may be considered. The long-term prognosis varies among specific CODEs, with some patients experiencing ongoing intestinal failure and associated complications. In conclusion, the early recognition and accurate diagnosis of CODEs are of paramount importance for implementing appropriate management strategies. Further research and advancements in genetic testing hold promise for enhancing diagnostic accuracy and exploring potential targeted therapies for these rare genetic disorders.
摘要：
先天性腹泻和肠病（CODEs）是一组罕见的遗传性疾病，其特征是在新生儿期或婴儿期严重腹泻和吸收不良。及时诊断和治疗对于预防危及生命的并发症至关重要,包括脱水,电解质不平衡，和营养不良。这篇综述提供了一种简化的代码诊断方法，特别关注微绒毛包涵体病（MVID），先天性簇绒肠病（CTE），先天性氯腹泻（CLD），和先天性钠腹泻（CSD）。患有CODE的患者通常表现为严重的水样腹泻或偶尔出现血性腹泻，脂肪泻,脱水,增长不佳,和发育迟缓。因此,彻底评估婴儿腹泻以排除传染性至关重要，过敏,或解剖学原因之前考虑CODEs作为潜在的病因。CODEs的诊断调查包括各种模式，包括粪便测试，验血,免疫学研究，用于组织学和电子显微镜的内窥镜检查和活检，和下一代测序（NGS）。NGS在鉴定导致CODE的基因突变中起着关键作用。CODEs的治疗选择有限，通常依靠全胃肠外营养来补充水分和营养支持。在严重的情况下,肠道移植可以考虑。长期预后因特定CODE而异，一些患者正在经历肠道衰竭和相关并发症。总之,CODE的早期识别和准确诊断对于实施适当的管理策略至关重要.基因检测的进一步研究和进步有望提高这些罕见遗传疾病的诊断准确性和探索潜在的靶向治疗方法。
