PDF(Pubmed)
Abstract：
Trichohepatoenteric syndrome (THES), also known as phenotypic diarrhea or syndromic diarrhea, is a rare autosomal recessive genetic disorder caused by mutations in SKIC2 (THES-type 2) or SKIC3 (THES-type 1) and is characterized by early onset diarrhea, woolly brittle hair, facial dysmorphic features and liver disease. We report the case of a 24-month-old girl who presented with chronic diarrhea since the neonatal period along with intrauterine growth restriction (IUGR), developmental delay, dysmorphic features, congenital heart defects, liver disease, and recurrent infections. The diagnosis was made through whole-exome sequencing analysis, which detected a homozygous variant (c.4070del, p.Pro1357Leufs*10) in the SKIC3 gene. The patient required parenteral nutrition and was hospitalized for the first 10 months of life and then discharged on PN after showing improvement. She remained stable on PN after discharge despite a few admissions for central line infections. Recent follow-up at the age of 2 years revealed that she was stable on long-term parenteral nutrition and that she had advanced chronic liver disease.
摘要：
猪肝毛肠综合征（THES），也被称为表型腹泻或综合征性腹泻，是由SKIC2（THES-2型）或SKIC3（THES-1型）突变引起的罕见常染色体隐性遗传病，其特征是早发性腹泻，羊毛易碎的头发，面部畸形特征和肝脏疾病。我们报告了一名24个月大的女孩，自新生儿期以来出现慢性腹泻并伴有宫内生长受限（IUGR）的病例。发育迟缓,变形特征，先天性心脏缺陷,肝病,和反复感染。通过全外显子组测序分析诊断,检测到一个纯合变体(c.4070del，p.Pro1357Leufs*10)在SKIC3基因中。患者需要肠外营养，并在生命的前10个月住院，然后在改善后出院。尽管有几次中线感染入院，但她在出院后仍保持稳定。最近在2岁时进行的随访显示，她在长期肠外营养下保持稳定，并且患有晚期慢性肝病。
