■毛肝肠综合征(THES)是由TTC37或SKIV2L基因的致病性突变引起的一种罕见的常染色体隐性遗传病。演示文稿是可变的,包括顽固性腹泻,羊毛头发异常,免疫功能障碍,宫内生长受限(IUGR),面部畸形,有时肝脏和皮肤异常。尽管在新加坡已经描述了四名患有THES综合征1的中国儿童,台湾(中国)和马来西亚,根据我们的知识,这是中国大陆首例患者的报告,具有典型的血小板特征,临床课程,以及TTC37基因的新突变。
■男婴有对称的IUGR,出生在37+1周,出生体重为1,480克。他在新生儿重症监护室逗留期间,从出生后第12天起出现喂养困难和呕吐,从出生后的第21天开始腹泻过多。从出生后第35天开始,即使是轻微低渗的口服补液也会引起水样大便。血糖水平低于3.3mmol/L,甚至当葡萄糖输注速率高达14mg/kg/min时,这在以前的文献中没有报道过。在THES血小板中偶尔观察到正常α颗粒。全外显子组测序分析确定了TTC37基因中的复合杂合突变(c.4130C>G:p.S1377X)和(Exon11-13del),从他的父亲和母亲那里继承下来,分别。据我们所知,上述突变在任何数据库或以前的文献中都没有描述.采用全胃肠外营养作为治疗的主要手段,和氢化可的松(1mg/kg/剂,每4小时)用于维持血糖水平。患者出院后最终预后较差。
■此病例表现为轻度血小板异常和顽固性低血糖,扩展了这些基因的已知突变和表型。中国患者的临床特征与其他种族一致。分子诊断对于无法解释的顽固性腹泻患者是有用的,结束了漫长的诊断之旅。
UNASSIGNED: Trichohepatoenteric syndrome (THES) is a rare autosomal recessive genetic disease caused by pathogenic mutations in
TTC37 or SKIV2L gene. The presentation is variable, including intractable diarrhea, woolly hair abnormality, immune dysfunction, intrauterine growth restriction (IUGR), facial dysmorphism, and sometimes liver and skin abnormalities. Although four Chinese children affected with THES syndrome 1 have been described in Singapore, Taiwan (China) and Malaysia, to our knowledge, this is the first report of a patient with THES in Mainland China, harboring classical platelets features, clinical course, and novel mutations in
TTC37 gene.
UNASSIGNED: The male infant had symmetrical IUGR, and was born at 37+1 weeks with a birth weight of 1,480 g. He presented with feeding difficulties and vomiting from the 12th day after birth during the stay in neonatal intensive care unit, and had excessive diarrhea from the 21st day after birth. From the 35th day after birth, even slightly hypotonic oral rehydration solution caused watery stools. The blood glucose level was lower than 3.3 mmol/L even when the glucose infusion rate was up to 14 mg/kg/min on the parenteral alone, which has not been reported in previous literature. Normal α-granules were observed occasionally in THES platelets. Whole-exome sequencing analysis identified compound heterozygous mutations (c.4130C > G: p.S1377X) and (Exon11-13 del) in the
TTC37 gene, which had been inherited from his father and mother, respectively. To our knowledge, the above mutations have not been described in any database or previous literature. Total parenteral nutrition was employed as mainstay of therapy, and hydrocortisone (1 mg/kg/dose, every 4 hours) was used to maintain blood glucose levels. The patient\'s final prognosis was poor after discharged from the hospital.
UNASSIGNED: This case presented with mild platelet abnormality and intractable hypoglycemia, which extends the known mutation and phenotype of THES. The clinical features of Chinese patient are consistent with other ethnicity. Molecular diagnosis is useful for patients with unexplained intractable diarrhea, which puts an end to a long diagnostic odyssey.