Hasosah Mohammed Y, Iskandarani Alaa I, Shawli Ayman I, Alsahafi Ashraf F, Sukkar Ghassan A, Qurashi Mansour A
Department of Pediatric Gastroenterology, King Saud Bin Abdulaziz University for Health Sciences, National Guard Hospital, Jeddah, Saudi Arabia.
Department of Genetics, King Saud Bin Abdulaziz University for Health Sciences, National Guard Hospital, Jeddah, Saudi Arabia.
Saudi J Gastroenterol. 2017 May-Jun;23(3):206-208. doi: 10.4103/1319-3767.207714.
Neuroblastoma amplified sequence (NBAS) gene mutation or infantile liver failure syndrome type 2 (ILFS type 2) is an extremely rare disease characterized by episodic liver failure precipitated by intercurrent febrile illness, and liver function recovering completely. Here, we report a 4-year-old girl with recurrent hepatitis. A diagnosis of ILFS type 2 was made based on NBAS mutation gene found by whole-exome sequencing. Our case provides a new insight toward considering NBAS mutation as a part of the differential diagnoses of any infant presenting with recurrent liver failure or hepatitis. We recommend sequencing NBAS in cases of recurrent hepatitis in infancy of unknown cause, especially in individuals with fever-associated hepatic dysfunction.
神经母细胞瘤扩增序列（NBAS）基因突变或2型婴儿肝衰竭综合征（ILFS 2型）是一种极为罕见的疾病，其特征为并发发热性疾病诱发间歇性肝衰竭，且肝功能可完全恢复。在此，我们报告一名4岁复发性肝炎女童。基于全外显子组测序发现的NBAS基因突变，做出了2型ILFS的诊断。我们的病例为将NBAS突变视为任何出现复发性肝衰竭或肝炎的婴儿鉴别诊断的一部分提供了新的见解。我们建议，对于病因不明的婴儿期复发性肝炎病例，尤其是伴有发热相关肝功能障碍的个体，对NBAS进行测序。
