Advances in the genetics of pediatric chronic intestinal pseudo-obstruction / 国际儿科学杂志

Chronic intestinal pseudo-obstruction is a serious intestinal dysmotility disorder with symptoms of bowel obstruction without mechanical obstruction.Compared with chronic intestinal pseudo-obstruction in adults, pediatric chronic intestinal pseudo-obstruction has unique clinical characteristics.Generally, 80% of pediatric chronic intestinal pseudo-obstruction cases are primary and idiopathic and there is no specific treatment, and management is mainly symptomatic.With the advancements in genetic testing, new findings have been identified, allowing for a better understanding of the underlying mechanisms of intestinal dysmotility and potential etiologies.This article reviews the genetic research progress of pediatric chronic intestinal pseudo-obstruction in recent years, introduces the pathological mechanism and clinical characteristics, and summarizes the pearls of diagnosis and treatment.

Systemic lupus erythematosis with severe aplastic anemia successfully treated with rituximab and antithymocyte globulin

Hematologic disorders are very common in Systmic lupus erythematosus [SLE].First presentation of SLE with severe aplastic anemia [SAA] is extremely rare. We report a patient with the diagnosis of secondary SAA associated with SLE. Conventional therapy was not effective. She received Rituximab [RTX] and Antithymocyte globulin [ATG] therapy, her response was satisfactory finally. Her hematologic parameters were within normal ranges until last follow-up, eight months and six months after therapy was initiated with RTX and ATG, respectively. This is the first time RTX and ATG were successfully used in the treatment of SAA secondary to SLE