Abstract：
Trichohepatoenteric syndrome (THES) is a rare autosomal recessive disorder caused by mutations in either TTC37 or SKIV2L, usually leading to congenital diarrhea as part of a multisystem disease. Here, we report on the natural history of the disease for the largest UK cohort of patients with THES from 1996 to 2020. We systematically reviewed the clinical records and pathological specimens of patients diagnosed with THES managed in a single tertiary pediatric gastroenterology unit. Between 1996 and 2020, 13 patients (7 female and 6 male) were diagnosed with THES either by mutation analysis or by clinical phenotype. Two patients died from complications of infection. All patients received parenteral nutrition (PN) of which six patients were weaned off PN. All patients had gastrointestinal tract inflammation on endoscopy. Almost half of the cohort were diagnosed with monogenic inflammatory bowel disease (IBD) by the age of 11 years, confirmed by endoscopic and histological findings. Protracted diarrhea causing intestinal failure improves with time in all patients with THES, but monogenic IBD develops in later childhood that is refractory to conventional IBD treatments. Respiratory issues contribute to significant morbidity and mortality, and good respiratory care is crucial to prevent comorbidity.
摘要：
毛肝肠管综合征（THES）是一种罕见的常染色体隐性遗传疾病，由TTC37或SKIV2L突变引起，通常导致先天性腹泻，作为多系统疾病的一部分。这里,我们报告了1996年至2020年英国最大的ThES患者队列的自然史.我们系统地回顾了在一个三级儿科胃肠病科治疗的被诊断为THES的患者的临床记录和病理标本。在1996年至2020年之间，通过突变分析或临床表型诊断出13名患者（7名女性和6名男性）患有THES。两名患者死于感染并发症。所有患者均接受肠外营养（PN），其中6例患者断奶。所有患者在内镜检查中均有胃肠道炎症。几乎一半的队列在11岁时被诊断出患有单基因炎症性肠病（IBD）。经内镜和组织学检查证实。导致肠衰竭的持续性腹泻随着时间的推移在所有患者中改善，但是单基因IBD在儿童后期发展，对常规IBD治疗难以治疗。呼吸系统问题导致大量的发病率和死亡率，良好的呼吸道护理对预防合并症至关重要。
