A Case Of IPEX Syndrome Complicated With Gut-origin Sepsis And Literature Review

Objective: To analyze clinical characteristics of children with IPEX syndrome complicated by gut-origin sepsis and to improve understanding,diagnosis and treatment of the disease.Methods: A detailed analysis of clinical manifestations,auxiliary examinations,diagnosis and treatment of a child with IPEX syndrome and gut-origin sepsis admitted to our hospital and review of related literature.Results: The child complained of "diarrhea for more than 1 month,rash for more than 20 days,and deteriorate of diarrhea with fever for 3 days" Main complaint and medical history: the child had diarrhea more than 1 month ago(since birth),about 7-10 times/day,large amount of watery stools,mixed breast milk and milk powder was taken and milk intake was acceptable,occasionally milk spills,blood in the stool with rash for 20 days before admission,milk protein allergy was considered outside the hospital,high concentrating hydrolyzed milk powder was given,than bloody stool improved,diarrhea and anorexio still presence,diarrhea was significantly worse 3 days before admission,accompanied by fever,occasional cough,anti-infective and fluid therapy was given to relieve diarrhea and regulation of intestinal function,but the treatment was ineffective.The child was delivered at full term and there was no family history of special diseases.Combined with the child’s growth and development history,no abnormality founded,history of presence illness our diagnosis was,"pediatric diarrhea,severe dehydration,hypovolemic shock,and hyponatremia,Congenital adrenal hyperplasia?Eczema” etc.,piperacillin and tazobactam sodium used as anti-infection,fluid replacement,correction of hyponatremia and restriction of potassium intake,oral probiotics and montmorillonite,supplement of calcium and zinc was given,eczema ointment was applied to whole body as symptomatic treatment.Laboratory tests showed polymorphonuclear leukocytosis,multiple stool routine occult blood positive,and 3 times stool culture founded carbapenem-resistant Enterobac-teriaceae,Klebsiella pneumoniae,which was resistant to multi-drugs,and sensitive to gentamicin,amikacin,tobramycin and levofloxacin.During hospitalization the child continued have watery stools,intermittent fever,amino acid milk powder was given but stool did not improve,and the infection index continued higher than before.Considering the presence of intestinal sepsis,antibiotic replaced with biapenem,which was ineffective.The family members agreed to oral treatment with gentamicin and the child’s body temperature gradually improved,PCT decreased to normal,and diarrhea remained unchanged.After stopped 2 days intravenous antibiotics,the child had poor response,vomiting,more blood spot on front chest and developed abdominal distension which was manifested incomplete intestinal obstruction.Monitor for clotting Routine PT42.5s,INR3.68,APTT126/6s,PA18%,FIB0.76g/L,D-dimer 0.32ug/ml,consider children with intestinal sepsis with DIC,blood biochemistry shows albumin Reduce to 17g/L,give Meropenem + Norvancomycin,and simultaneously stop bleeding with vitamin K1,hemag-glutinin,plasma,albumin,gamma globulin,prothrombin complex,human fibrinogen,concentrated red blood cells,etc.After treatment,the coagulation function of the child is gradually improved,but the blood albumin fluctuates at about20g/L,and the albumin level of multiple infusions is not ideal,and the water sample does not improve continuously.Combined with the child’s medical history,diarrhea characteristics,and congenital diseases No exceptions,first consider that IPEX syndrome cannot be excluded,and 2ml of venous blood from the child and his parents will be collected for genetic testing,and the results will be reported.The child was discharged automatically after the temperature and DIC were controlled.Discharge diagnosis: 1)Pediatric diarrhea: IPEX syndrome? Inflammatory bowel disease? 2)Protein loss enteropathy? 3)Severe dehydration 4)Hypovolemic shock 5)Gut-origin sepsis 6)Diffuse intravascular coagulation 7)Incomplete intestinal obstruction8)Electrolyte disorders 9)Toxic anemia 10)Eczema.The telephone return interview revealed that the child died 2 days after being discharged from the hospital.The gene result report confirmed IPEX syndrome,which is a spontaneous mutation.Therefore,the revised diagnosis is: 1)IPEX syndrome2)Gut sepsis 3)Diffuse intravascular coagulation 4)Hypovolemic shock 5)Severe dehydration 6)Incomplete intestinal obstruction 7.Electrolyte disturbance 8)Moderate Degree anemia 9)Eczema.Conclusions:1.IPEX syndrome,namely X-linked endocrine gland disease,bowel disease with immune disorder syndrome,is a rare genetic disease of the immune system caused by mutations in the FOXP3 gene.It is rare in clinical practice,and it is easy to miss and misdiagnose.We should raise our awareness and attention to special diseases.2.In infant symptoms such as early-onset refractory diarrhea,skin rash,polyendocrine disease and abnormal growth,the possibility of autoimmune and immunodeficiency diseases should be considered and flow cytometry as a important method to diagnosis and genetic testing should be performed as soon as possible to determine the cause.Infant without formal treatment usually die within 2 year of age.To achieve long-tern survival allogeneic hematopoietic stem cell(HSCT)transplantation is the final choice.3.Sepsis refers to the systemic inflammatory response syndrome caused by a suspicious(or definite)infection.If the disease continues to progress,multiple organ failure may occur.The intestine is the body’s largest immune organ.When infection occurs and is not controlled in time,pathogenic bacteria can enter the blood circulation and cause intestinal sepsis.