Two patients with intestinal failure requiring home parenteral nutrition, a NOD2 mutation and tuberculous lymphadenitis

BMC Gastroenterology

Georg Lamprecht²  Julia-Stefanie Frick³  Chih-Jen Hsieh¹  Sabrina Fleischer⁴  Matthias Teufel⁴  Holger Schäffler² 

[1] 1st Medical Department, University of Tübingen, Tübingen, Germany;Division of Gastroenterology, Department of Medicine II, University of Rostock, Ernst-Heydemann-Str. 6, D-18057 Rostock, Germany;Institute of Medical Microbiology and Hygiene, University of Tübingen, Tübingen, Germany;Department of Diagnostic Radiology, Eberhard Karls University Tübingen, Tübingen, Germany

关键词: Catheter related blood stream infection;    Tuberculous lymphadenitis;    Intestinal failure;    NOD2;   

Others  :  855680
DOI  :  10.1186/1471-230X-14-43

 received in 2013-10-26, accepted in 2014-02-20,  发布年份 2014

【 摘 要 】

Background

Mutations in the NOD2 gene are a significant risk factor to acquire intestinal failure requiring home parenteral nutrition. Tuberculous lymphadenitis is the main manifestation of extrapulmonary tuberculosis. Defects in the innate immunity, including NOD2 mutations, may increase the risk for acquiring infections caused by M. tuberculosis. An association of intestinal failure, mutations in the NOD2 gene and tuberculous lymphadenitis has not been described before.

Case presentation

We report of two patients with intestinal failure secondary to mesenteric ischemia. Both patients presented with fever and weight loss while receiving long term home parenteral nutrition. Both of them were found to have mutations in the NOD2 gene. Catheter related infections were ruled out. FDG-PET-CT scans initially obtained in search for another infectious focus that would explain the symptoms unexpectedly showed high FDG uptake in mediastinal lymph nodes. Direct or indirect evidence proved or was highly suggestive for tuberculous lymphadenitis. Intravenous tuberculostatic therapy was started and led to a reversal of symptoms and to resolution of the lesions by FDG-PET-CT.

Conclusion

Mutations in the NOD2 gene may put patients both at an increased risk for acquiring M. tuberculosis infections as well as at an increased risk of intestinal failure after extensive intestinal resection. Thus we suggest to specifically include reactivated and opportunistic infections in the differential diagnosis of suspected catheter related infection in patients with intestinal failure who carry mutations in their NOD2 gene.

【 授权许可】

   
2014 Schäffler et al.; licensee BioMed Central Ltd.

【 图 表 】

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