Taher Ziad A, Alzahrani Saeed, Alsaghir Abdullah, Nouh Faris, Alshumrani Mesbah
Department of Medicine, Ministry of National Guard Health Affair, King Saud Bin Abdulaziz University for Health Sciences, COM-WR, King Abdullah International Medical Research Center, Jeddah 21423, Saudi Arabia.
Department of Pediatrics, Ministry of National Guard Health Affair, Jeddah 21423, Saudi Arabia.
Pediatr Rep. 2020 Oct 26;12(3):93-97. doi: 10.3390/pediatric12030021.
Trichohepatoenteric syndrome is an autosomal recessive genetic disease with an estimated prevalence of 1:100,000. The mutation of the disease is placed either in or genes. The onset of presentation is variable, but symptoms usually start with intractable diarrhea associated with woolly hair abnormality, immune dysfunction, and sometimes hepatic abnormality. This case is of a 10-month-old girl who was born at 37 + 2 weeks due to symmetrical intrauterine growth restriction (IUGR), with a low birth weight (1320 g). It was noticed during her stay in NICU that she had excessive diarrhea on day 8. Gastroenterology suggested starting an extensively-hydrolyzed formula, but no improvement noticed. The multidisciplinary teams decided to order whole-exome sequencing analysis after excluding diarrhea causes. The analysis detected a new variant mutation ( > ) p. (Arg433Cys). To our knowledge, this is the first time detected in a homozygous state in the gene, as this variant mutation has not been described in any previous literature. Our case was managed mainly by total parenteral nutrition. The patient responded to the treatment appropriately.
毛发肝肠综合征是一种常染色体隐性遗传病，估计患病率为1:100,000。该疾病的突变位于 或 基因中。发病表现不一，但症状通常始于顽固性腹泻，并伴有毛发异常、免疫功能障碍，有时还伴有肝脏异常。本病例为一名10个月大的女孩，因对称性宫内生长受限（IUGR）于37 + 2周出生，出生体重低（1320克）。她在新生儿重症监护病房（NICU）住院期间，第8天出现严重腹泻。胃肠病学专家建议开始使用深度水解配方奶粉，但未见改善。多学科团队在排除腹泻原因后决定进行全外显子测序分析。分析检测到一个新的变异突变（>）p.（Arg433Cys）。据我们所知，这是该基因首次在纯合状态下被检测到，因为此前任何文献中均未描述过这种变异突变。我们的病例主要通过全胃肠外营养进行治疗。患者对治疗反应良好。
