Kumar Varun, Kumar Karunesh, Jerath Nameet, Sibal Anupam
Pediatric Gastroenterology and Hepatology, Indraprastha Apollo Hospital, New Delhi, India
Pediatric Gastroenterology and Hepatology, Indraprastha Apollo Hospital, New Delhi, India.
BMJ Case Rep. 2025 Mar 19;18(3):e263427. doi: 10.1136/bcr-2024-263427.
Even after a thorough workup, aetiology remains indeterminate in a majority of paediatric acute liver failure cases. Whole exome sequencing (WES) by next-generation sequencing has helped in identifying aetiology in such cases. Autoinflammatory disorders and disorders of immune dysregulation are evolving causes of acute liver failure. Here, we present a case of a young child who presented with acute liver failure and was diagnosed to have DOCK11 deficiency on WES. The child improved with symptomatic treatment. DOCK11 deficiency is a multisystem autoinflammatory disease that may present as acute liver failure.
即使经过全面检查，大多数儿童急性肝衰竭病例的病因仍不明确。通过下一代测序进行的全外显子组测序（WES）有助于确定此类病例的病因。自身炎症性疾病和免疫调节异常疾病是急性肝衰竭不断演变的病因。在此，我们报告一例幼儿，其因急性肝衰竭就诊，经WES诊断为DOCK11缺陷。该患儿经对症治疗后病情好转。DOCK11缺陷是一种多系统自身炎症性疾病，可表现为急性肝衰竭。
