PDF(Pubmed)
Abstract：
An infant was admitted with suspected postinfectious malabsorption with watery diarrhoea, fever and failure to thrive. She had dehydration, acute kidney injury and metabolic acidosis, which were corrected with intravenous fluids and managed with empiric antibiotics and prophylactic antifungals. She also developed Escherichia coli sepsis, meningitis and Candida skin infections during hospitalisation, which were treated according to the culture reports. Intrauterine growth restriction, woolly hair and a broad nasal bridge with chronic refractory diarrhoea prompted genetic testing to rule out syndromic diarrhoea. Whole-exome sequencing revealed a pathogenic compound heterozygous mutation causing trichohepatoenteric syndrome. She succumbed to severe infections at 80 days of life. The condition is rare, and no established guidelines or specific treatments exist; the focus is to promote optimal growth through parenteral nutrition, elemental formula and infection control. Early suspicion and molecular genetic testing can help reduce the time to diagnosis, treatment and genetic counselling.
摘要：
一名婴儿因怀疑感染后吸收不良并出现水样腹泻而入院,发烧和未能茁壮成长。她脱水了,急性肾损伤和代谢性酸中毒，用静脉输液纠正，并用经验性抗生素和预防性抗真菌药物治疗。她还患上了大肠杆菌败血症,住院期间脑膜炎和念珠菌皮肤感染，根据文化报告进行治疗。宫内生长受限,毛茸茸的头发和宽阔的鼻梁伴慢性难治性腹泻，促使基因检测排除综合征性腹泻。全外显子组测序显示一个致病的复合杂合突变导致毛管肝肠综合征。她在80天的生命中死于严重感染。这种情况很罕见，并且没有既定的指南或特定的治疗方法;重点是通过肠外营养促进最佳生长，基本配方和感染控制。早期怀疑和分子基因检测可以帮助减少诊断时间，治疗和遗传咨询。
