| Objective To improve the understanding of clinical features, pathogenesis, diagnosis and treatment of Tricho-hepato-enteric syndrome (THES).Methods A case of THES type I in Guangdong Hospital of Traditional Chinese Medicine on November 29,2021 was reported, and the relevant literature was reviewed.Results In terms of diagnosis, Whole Exome Sequencing had been usedto clarify. In terms of treatment, immunotherapy, nutritional support, anti-infection and symptomatic treatment of traditional Chinese medicine were given priority. After treatment, the child′s diarrhea and abdominal distension were reduced, manifested as intermittentdiarrhea, scattered stool, occasionally into paste. Besides, enteral nutrition supplement increased, and parenteral nutrition intake gradually reduced, and infection was controlled. The whole body skin and sclera was normal, no cough, with slight increasing in weight.Therefore, parents requested discharge.Conclusion At present, the diagnosis of the disease mainly depends on gene diagnosis, andthe clinical treatment is mainly immunotherapy and nutritional support. Furthermore, combined with the theory of traditional Chinesemedicine "Fuzheng Guben" can explore a new treatment for this disease. |
