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Extrapulmonary tuberculosis

MedGen UID:
671310
Concept ID:
C0679362
Disease or Syndrome
Synonyms: Extra Pulmonary Tuberculosis; Extra-Pulmonary Tuberculoses; Extra-Pulmonary Tuberculosis; Extrapulmonary Tuberculoses; Extrapulmonary Tuberculosis; Tuberculosis, Extra-Pulmonary; Tuberculosis, Extrapulmonary
SNOMED CT: Tuberculosis, extrapulmonary (423997002); TB, extrapulmonary (423997002)
 
HPO: HP:0032271
Monarch Initiative: MONDO:0000368

Definition

A type of tubercular infection located outside of the lung, which is the most common location of tuberculosis. There are two types of clinical manifestation of tuberculosis (TB) are pulmonary TB (PTB) and extrapulmonary TB (EPTB). The former is most common. EPTB refers to TB involving organs other than the lungs (e.g., pleura, lymph nodes, abdomen, genitourinary tract, skin, joints and bones, or meninges). A patient with both pulmonary and EPTB is classified as a case of PTB. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVExtrapulmonary tuberculosis

Conditions with this feature

Immunodeficiency 91 and hyperinflammation
MedGen UID:
1794283
Concept ID:
C5562073
Disease or Syndrome
Immunodeficiency-91 and hyperinflammation (IMD91) is an autosomal recessive complex immunologic disorder characterized by both immunodeficiency and recurrent infections, often to viruses or mycobacteria, as well as by hyperinflammation with systemic involvement. Affected individuals present in infancy with variable features, including fever, infection, thrombocytopenia, renal or hepatic dysfunction, recurrent infections, or seizures. Most patients eventually develop hepatic or renal failure, compromised neurologic function, lymphadenopathy or hepatosplenomegaly, and multiorgan failure resulting in death. More variable features may include intermittent monocytosis, features of hemophagocytic lymphohistiocytosis (HLH), and serologic evidence of hyperinflammation. The disorder is thought to result from dysregulation of the interferon response to viral stimulation in the innate immune system (summary by Le Voyer et al., 2021; Vavassori et al., 2021).

Professional guidelines

PubMed

Jha DK, Pathiyil MM, Sharma V
Indian J Gastroenterol 2023 Feb;42(1):17-31. Epub 2023 Mar 11 doi: 10.1007/s12664-023-01343-x. PMID: 36899289Free PMC Article
Al-Zanbagi AB, Shariff MK
Saudi J Gastroenterol 2021 Sep-Oct;27(5):261-274. doi: 10.4103/sjg.sjg_148_21. PMID: 34213424Free PMC Article
Lewinsohn DM, Leonard MK, LoBue PA, Cohn DL, Daley CL, Desmond E, Keane J, Lewinsohn DA, Loeffler AM, Mazurek GH, O'Brien RJ, Pai M, Richeldi L, Salfinger M, Shinnick TM, Sterling TR, Warshauer DM, Woods GL
Clin Infect Dis 2017 Jan 15;64(2):111-115. doi: 10.1093/cid/ciw778. PMID: 28052967Free PMC Article

Recent clinical studies

Etiology

Al-Zanbagi AB, Shariff MK
Saudi J Gastroenterol 2021 Sep-Oct;27(5):261-274. doi: 10.4103/sjg.sjg_148_21. PMID: 34213424Free PMC Article
Kohli M, Schiller I, Dendukuri N, Yao M, Dheda K, Denkinger CM, Schumacher SG, Steingart KR
Cochrane Database Syst Rev 2021 Jan 15;1(1):CD012768. doi: 10.1002/14651858.CD012768.pub3. PMID: 33448348Free PMC Article
Rodriguez-Takeuchi SY, Renjifo ME, Medina FJ
Radiographics 2019 Nov-Dec;39(7):2023-2037. doi: 10.1148/rg.2019190109. PMID: 31697616
Sinha R, Rahul
Indian J Tuberc 2019 Jan;66(1):6-11. Epub 2018 Jul 11 doi: 10.1016/j.ijtb.2018.07.003. PMID: 30797285
Golden MP, Vikram HR
Am Fam Physician 2005 Nov 1;72(9):1761-8. PMID: 16300038

Diagnosis

Jha DK, Pathiyil MM, Sharma V
Indian J Gastroenterol 2023 Feb;42(1):17-31. Epub 2023 Mar 11 doi: 10.1007/s12664-023-01343-x. PMID: 36899289Free PMC Article
Al-Zanbagi AB, Shariff MK
Saudi J Gastroenterol 2021 Sep-Oct;27(5):261-274. doi: 10.4103/sjg.sjg_148_21. PMID: 34213424Free PMC Article
Eraksoy H
Gastroenterol Clin North Am 2021 Jun;50(2):341-360. doi: 10.1016/j.gtc.2021.02.004. PMID: 34024445
Sinha R, Rahul
Indian J Tuberc 2019 Jan;66(1):6-11. Epub 2018 Jul 11 doi: 10.1016/j.ijtb.2018.07.003. PMID: 30797285
Golden MP, Vikram HR
Am Fam Physician 2005 Nov 1;72(9):1761-8. PMID: 16300038

Therapy

Sharma SK, Mohan A, Kohli M
Expert Rev Respir Med 2021 Jul;15(7):931-948. Epub 2021 Jul 14 doi: 10.1080/17476348.2021.1927718. PMID: 33966561
Cherian A, Ajitha KC, Iype T, Divya KP
Acta Neurol Belg 2021 Feb;121(1):11-21. Epub 2021 Jan 5 doi: 10.1007/s13760-020-01575-0. PMID: 33400226
Sinha R, Rahul
Indian J Tuberc 2019 Jan;66(1):6-11. Epub 2018 Jul 11 doi: 10.1016/j.ijtb.2018.07.003. PMID: 30797285
Kohli M, Schiller I, Dendukuri N, Dheda K, Denkinger CM, Schumacher SG, Steingart KR
Cochrane Database Syst Rev 2018 Aug 27;8(8):CD012768. doi: 10.1002/14651858.CD012768.pub2. PMID: 30148542Free PMC Article
Figueiredo AA, Lucon AM, Srougi M
Microbiol Spectr 2017 Jan;5(1) doi: 10.1128/microbiolspec.TNMI7-0015-2016. PMID: 28087922

Prognosis

Martinez L, Cords O, Liu Q, Acuna-Villaorduna C, Bonnet M, Fox GJ, Carvalho ACC, Chan PC, Croda J, Hill PC, Lopez-Varela E, Donkor S, Fielding K, Graham SM, Espinal MA, Kampmann B, Reingold A, Huerga H, Villalba JA, Grandjean L, Sotgiu G, Egere U, Singh S, Zhu L, Lienhardt C, Denholm JT, Seddon JA, Whalen CC, García-Basteiro AL, Triasih R, Chen C, Singh J, Huang LM, Sharma S, Hannoun D, Del Corral H, Mandalakas AM, Malone LL, Ling DL, Kritski A, Stein CM, Vashishtha R, Boulahbal F, Fang CT, Boom WH, Netto EM, Lemos AC, Hesseling AC, Kay A, Jones-López EC, Horsburgh CR, Lange C, Andrews JR
Lancet Glob Health 2022 Sep;10(9):e1307-e1316. doi: 10.1016/S2214-109X(22)00283-2. PMID: 35961354Free PMC Article
Kohli M, Schiller I, Dendukuri N, Dheda K, Denkinger CM, Schumacher SG, Steingart KR
Cochrane Database Syst Rev 2018 Aug 27;8(8):CD012768. doi: 10.1002/14651858.CD012768.pub2. PMID: 30148542Free PMC Article
Walzl G, McNerney R, du Plessis N, Bates M, McHugh TD, Chegou NN, Zumla A
Lancet Infect Dis 2018 Jul;18(7):e199-e210. Epub 2018 Mar 23 doi: 10.1016/S1473-3099(18)30111-7. PMID: 29580818
Sethuraman G, Ramesh V
Pediatr Dermatol 2013 Jan-Feb;30(1):7-16. Epub 2012 Nov 22 doi: 10.1111/j.1525-1470.2012.01794.x. PMID: 23173930
Golden MP, Vikram HR
Am Fam Physician 2005 Nov 1;72(9):1761-8. PMID: 16300038

Clinical prediction guides

Nacarapa E, Munyangaju I, Osório D, Zindoga P, Mutaquiha C, Jose B, Macuacua A, Chongo B, de-Almeida M, Verdu ME, Ramos-Rincon JM
Sci Rep 2022 Oct 5;12(1):16675. doi: 10.1038/s41598-022-21153-z. PMID: 36198860Free PMC Article
Kohli M, Schiller I, Dendukuri N, Yao M, Dheda K, Denkinger CM, Schumacher SG, Steingart KR
Cochrane Database Syst Rev 2021 Jan 15;1(1):CD012768. doi: 10.1002/14651858.CD012768.pub3. PMID: 33448348Free PMC Article
Kohli M, Schiller I, Dendukuri N, Dheda K, Denkinger CM, Schumacher SG, Steingart KR
Cochrane Database Syst Rev 2018 Aug 27;8(8):CD012768. doi: 10.1002/14651858.CD012768.pub2. PMID: 30148542Free PMC Article
Walzl G, McNerney R, du Plessis N, Bates M, McHugh TD, Chegou NN, Zumla A
Lancet Infect Dis 2018 Jul;18(7):e199-e210. Epub 2018 Mar 23 doi: 10.1016/S1473-3099(18)30111-7. PMID: 29580818
Sethuraman G, Ramesh V
Pediatr Dermatol 2013 Jan-Feb;30(1):7-16. Epub 2012 Nov 22 doi: 10.1111/j.1525-1470.2012.01794.x. PMID: 23173930

Recent systematic reviews

Igbokwe V, Ruby LC, Sultanli A, Bélard S
Lancet Infect Dis 2023 Apr;23(4):e138-e150. doi: 10.1016/S1473-3099(23)00004-X. PMID: 36963920
Martinez L, Cords O, Liu Q, Acuna-Villaorduna C, Bonnet M, Fox GJ, Carvalho ACC, Chan PC, Croda J, Hill PC, Lopez-Varela E, Donkor S, Fielding K, Graham SM, Espinal MA, Kampmann B, Reingold A, Huerga H, Villalba JA, Grandjean L, Sotgiu G, Egere U, Singh S, Zhu L, Lienhardt C, Denholm JT, Seddon JA, Whalen CC, García-Basteiro AL, Triasih R, Chen C, Singh J, Huang LM, Sharma S, Hannoun D, Del Corral H, Mandalakas AM, Malone LL, Ling DL, Kritski A, Stein CM, Vashishtha R, Boulahbal F, Fang CT, Boom WH, Netto EM, Lemos AC, Hesseling AC, Kay A, Jones-López EC, Horsburgh CR, Lange C, Andrews JR
Lancet Glob Health 2022 Sep;10(9):e1307-e1316. doi: 10.1016/S2214-109X(22)00283-2. PMID: 35961354Free PMC Article
Al-Zanbagi AB, Shariff MK
Saudi J Gastroenterol 2021 Sep-Oct;27(5):261-274. doi: 10.4103/sjg.sjg_148_21. PMID: 34213424Free PMC Article
Kohli M, Schiller I, Dendukuri N, Yao M, Dheda K, Denkinger CM, Schumacher SG, Steingart KR
Cochrane Database Syst Rev 2021 Jan 15;1(1):CD012768. doi: 10.1002/14651858.CD012768.pub3. PMID: 33448348Free PMC Article
Kohli M, Schiller I, Dendukuri N, Dheda K, Denkinger CM, Schumacher SG, Steingart KR
Cochrane Database Syst Rev 2018 Aug 27;8(8):CD012768. doi: 10.1002/14651858.CD012768.pub2. PMID: 30148542Free PMC Article

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