第十二届北京罕见病学术大会暨2024京津冀罕见病学术大会征文(052)

 Beijing Children`s Hospital， Capital Medical University， National Center for Children`s Health

Kaige zhang  Guanghua zhu

Purpose Uncontrolled infection prior to transplantation is a contraindication to transplantation and increases non-relapse mortality(NRM).Whipple’s disease(WD) is a rare，chronic，systemic infectious disease.it is rarely reported that lung imaging was the main clinical manifestations of Whipple’s disease，beside，no cases of Whipple lung infection before transplantation and successful completion of allogeneic hematopoietic stem cell transplantation have been reported so far.Weight loss，diarrhoea，arthralgia and abdominal pain are the predominant characteristics，lung symptoms selodom reported. Periodic acid Schiff (PAS) staining of duodenal biopsy specimens was the gold standard for diagnosis，which had a poor specifificity and sensitivity.Specific polymerase chain reaction (PCR) is becoming a popular technique for diagnosing Whipple’s disease. If left untreated，it may be fatal. As to hematopoietic stem cell transplantation，early diagnosis and treatment are particularly important.We want to share the diagnosis and treatment process of an atypical pulmonary mass shadow case to help everyone better recognise Whipple＇s disease and share the treatment experience of our center.

Methods Reviewing the tortuous process of disease development， the disease was

diagonosed by the mutation of the LRBAgene in the Whole exome-genome sequence. Hematopoietic stem cell transplantation is the only treatment.Before transplantation，pulmonary imaging evaluation tend to favor fungal infection， however，antifungal therapy is ineffective. PCR of bronchoalveolar lavage fluid detect Tropheryma whipplei，early antibiotic treatment with ceftriaxone(50mg/kg，intravenously once a day) combine tetracycline(40mg orally per day) with hydroxychloroquine(100mg orally per day)for two months achieved good results，subsequent continuation therapy with therapeutic dose of co-trimoxazole with no progression of pulmonary lesions or neurological complications observed during follow-up.

Results If multiple pulmonary masses are encountered and routine treatment is ineffective， especially in immunodeficiency patient，you should be alert to the rare Whipple infection.Early combination antibiotics can achieve good effects. To reduce disease recurrence， maintenance therapy is important， and regular follow-up is required to be vigilant against central nervous system involvement.

Conclusions When clinicians meet complex clinical features required a high degree of pondering.Specific polymerase chain reaction (PCR) is becoming a popular non-invsae technique for diagnosing Whipple’s disease.Early and adequate antibiotic treatment may reduced the mortality rate even in transplant patients.So far，there was no a consensus about the type and duration of treatment especially in chidren，we want to share the successful treatment experience of our center to reach a consensus on the type and duration of antibiotics， however， due to an isolated case exist limitation.