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Tubulointerstitial nephritis and uveitis syndrome(TINU)

MedGen UID:
334715
Concept ID:
C1843273
Disease or Syndrome
Synonyms: TINU syndrome; Tubulointerstitial nephritis and uveitis; TUBULOINTERSTITIAL NEPHRITIS WITH UVEITIS
SNOMED CT: Tubulointerstitial nephritis with uveitis syndrome (418839003); TINU - Tubulointerstitial nephritis with uveitis syndrome (418839003)
Modes of inheritance:
Non-Mendelian inheritance
MedGen UID:
109109
Concept ID:
C0600599
Genetic Function
Source: Orphanet
A mode of inheritance that depends on a mixture of major and minor genetic determinants possibly together with environmental factors. Diseases inherited in this manner are termed complex diseases.
 
Monarch Initiative: MONDO:0011885
OMIM®: 607665
Orphanet: ORPHA91500

Definition

A rare renal tubular disease characterized by early-onset tubulointerstitial nephritis associated with anterior uveitis. [from ORDO]

Clinical features

From HPO
Glomerulonephritis
MedGen UID:
6616
Concept ID:
C0017658
Disease or Syndrome
Inflammation of the renal glomeruli.
Abnormality of the mouth
MedGen UID:
6447
Concept ID:
C0026633
Congenital Abnormality
An abnormality of the mouth.
Panuveitis
MedGen UID:
45303
Concept ID:
C0030343
Disease or Syndrome
Inflammation of the uveal tract in which inflammation affects the anterior chamber, vitreous, retina or choroid.
Uveitis
MedGen UID:
52961
Concept ID:
C0042164
Disease or Syndrome
Inflammation of one or all portions of the uveal tract.
Anterior uveitis
MedGen UID:
22595
Concept ID:
C0042165
Disease or Syndrome
Inflammation of the uveal tract in which the primary site of inflammation is the anterior chamber.
Elevated circulating creatinine concentration
MedGen UID:
148579
Concept ID:
C0700225
Finding
An increased amount of creatinine in the blood.
Acute tubulointerstitial nephritis
MedGen UID:
334716
Concept ID:
C1843274
Disease or Syndrome
Acute inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules.
Reversible renal failure
MedGen UID:
334717
Concept ID:
C1843276
Disease or Syndrome
Acute renal failure with resolution of manifestations.
Circulating immune complexes
MedGen UID:
854473
Concept ID:
C3887628
Finding
Persistence of immune complexes in the blood circulation.
Non-caseating epithelioid cell granulomatosis
MedGen UID:
868600
Concept ID:
C4022999
Finding
The presence of multiple epithelioid cell granulomas consist of highly differentiated mononuclear phagocytes (epithelioid cells and giant cells) and lymphocytes, not exhibiting caseation (a form of necrosis in which the tissue changes into a dry, amorphous mass said to resemble cheese).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTubulointerstitial nephritis and uveitis syndrome
Follow this link to review classifications for Tubulointerstitial nephritis and uveitis syndrome in Orphanet.

Professional guidelines

PubMed

Wente-Schulz S, Aksenova M, Awan A, Ambarsari CG, Becherucci F, Emma F, Fila M, Francisco T, Gokce I, Gülhan B, Hansen M, Jahnukainen T, Kallash M, Kamperis K, Mason S, Mastrangelo A, Mencarelli F, Niwinska-Faryna B, Riordan M, Rus RR, Saygili S, Serdaroglu E, Taner S, Topaloglu R, Vidal E, Woroniecki R, Yel S, Zieg J, Pape L; international TIN study group
BMJ Open 2021 May 28;11(5):e047059. doi: 10.1136/bmjopen-2020-047059. PMID: 34049919Free PMC Article
Takeuchi M, Kanda T, Kaburaki T, Tanaka R, Namba K, Kamoi K, Maruyama K, Shibuya E, Mizuki N
Medicine (Baltimore) 2019 Mar;98(9):e14668. doi: 10.1097/MD.0000000000014668. PMID: 30817592Free PMC Article
Mackensen F, Smith JR, Rosenbaum JT
Ophthalmology 2007 May;114(5):995-9. Epub 2007 Mar 26 doi: 10.1016/j.ophtha.2007.01.002. PMID: 17383731

Recent clinical studies

Etiology

Zhou XJ, Su T, Xie J, Xie QH, Wang LZ, Hu Y, Chen G, Jia Y, Huang JW, Li G, Liu Y, Yu XJ, Nath SK, Tsoi LC, Patrick MT, Berthier CC, Liu G, Wang SX, Xu H, Chen N, Hao CM, Zhang H, Yang L
J Am Soc Nephrol 2023 May 1;34(5):895-908. Epub 2023 Feb 2 doi: 10.1681/ASN.0000000000000091. PMID: 36749126Free PMC Article
Southgate G, Clarke P, Harmer MJ
J Nephrol 2023 Mar;36(2):507-519. Epub 2022 Nov 18 doi: 10.1007/s40620-022-01478-8. PMID: 36396848
Regusci A, Lava SAG, Milani GP, Bianchetti MG, Simonetti GD, Vanoni F
Nephrol Dial Transplant 2022 Apr 25;37(5):876-886. doi: 10.1093/ndt/gfab030. PMID: 33561271
Koreishi AF, Zhou M, Goldstein DA
Ocul Immunol Inflamm 2021 Nov 17;29(7-8):1312-1317. Epub 2020 May 28 doi: 10.1080/09273948.2020.1736311. PMID: 32463299
Okafor LO, Hewins P, Murray PI, Denniston AK
Orphanet J Rare Dis 2017 Jul 14;12(1):128. doi: 10.1186/s13023-017-0677-2. PMID: 28709457Free PMC Article

Diagnosis

Southgate G, Clarke P, Harmer MJ
J Nephrol 2023 Mar;36(2):507-519. Epub 2022 Nov 18 doi: 10.1007/s40620-022-01478-8. PMID: 36396848
Regusci A, Lava SAG, Milani GP, Bianchetti MG, Simonetti GD, Vanoni F
Nephrol Dial Transplant 2022 Apr 25;37(5):876-886. doi: 10.1093/ndt/gfab030. PMID: 33561271
Koreishi AF, Zhou M, Goldstein DA
Ocul Immunol Inflamm 2021 Nov 17;29(7-8):1312-1317. Epub 2020 May 28 doi: 10.1080/09273948.2020.1736311. PMID: 32463299
Okafor LO, Hewins P, Murray PI, Denniston AK
Orphanet J Rare Dis 2017 Jul 14;12(1):128. doi: 10.1186/s13023-017-0677-2. PMID: 28709457Free PMC Article
Mackensen F, Billing H
Curr Opin Ophthalmol 2009 Nov;20(6):525-31. doi: 10.1097/ICU.0b013e3283318f9a. PMID: 19752730

Therapy

Southgate G, Clarke P, Harmer MJ
J Nephrol 2023 Mar;36(2):507-519. Epub 2022 Nov 18 doi: 10.1007/s40620-022-01478-8. PMID: 36396848
Scifo L, Willermain F, Postelmans L, Pozdzik A, Lolin Sekelj K, Zampieri M, de Jong C, Makhoul D
Ocul Immunol Inflamm 2022 Jul;30(5):1190-1198. Epub 2021 Jun 30 doi: 10.1080/09273948.2020.1869267. PMID: 34191677
Koreishi AF, Zhou M, Goldstein DA
Ocul Immunol Inflamm 2021 Nov 17;29(7-8):1312-1317. Epub 2020 May 28 doi: 10.1080/09273948.2020.1736311. PMID: 32463299
Aguilar MC, Lonngi M, de-la-Torre A
Ocul Immunol Inflamm 2016 Aug;24(4):415-21. Epub 2015 Sep 23 doi: 10.3109/09273948.2015.1034374. PMID: 26400208
Saarela V, Nuutinen M, Ala-Houhala M, Arikoski P, Rönnholm K, Jahnukainen T
Ophthalmology 2013 Jul;120(7):1476-81. Epub 2013 Mar 16 doi: 10.1016/j.ophtha.2012.12.039. PMID: 23511116

Prognosis

Petek T, Frelih M, Marčun Varda N
J Med Case Rep 2021 Sep 4;15(1):443. doi: 10.1186/s13256-021-03017-8. PMID: 34479628Free PMC Article
Carvalho TJ, Calça R, Cassis J, Mendes A
BMJ Case Rep 2019 Jan 29;12(1) doi: 10.1136/bcr-2018-227688. PMID: 30700465Free PMC Article
Sobolewska B, Bayyoud T, Deuter C, Doycheva D, Zierhut M
Ocul Immunol Inflamm 2018;26(4):601-607. Epub 2016 Dec 12 doi: 10.1080/09273948.2016.1247872. PMID: 27937079
Saarela V, Nuutinen M, Ala-Houhala M, Arikoski P, Rönnholm K, Jahnukainen T
Ophthalmology 2013 Jul;120(7):1476-81. Epub 2013 Mar 16 doi: 10.1016/j.ophtha.2012.12.039. PMID: 23511116
Mandeville JT, Levinson RD, Holland GN
Surv Ophthalmol 2001 Nov-Dec;46(3):195-208. doi: 10.1016/s0039-6257(01)00261-2. PMID: 11738428

Clinical prediction guides

Hayashi A, Takahashi T, Ueda Y, Sato Y, Okamoto T
Pediatr Nephrol 2021 Aug;36(8):2319-2325. Epub 2021 Feb 3 doi: 10.1007/s00467-021-04956-6. PMID: 33534000
Kitano M, Tanaka R, Kaburaki T, Nakahara H, Shirahama S, Suzuki T, Komae K, Aihara M
Ocul Immunol Inflamm 2021 Nov 17;29(7-8):1280-1286. Epub 2020 Mar 12 doi: 10.1080/09273948.2020.1726972. PMID: 32162972
Saarela V, Nuutinen M, Ala-Houhala M, Arikoski P, Rönnholm K, Jahnukainen T
Ophthalmology 2013 Jul;120(7):1476-81. Epub 2013 Mar 16 doi: 10.1016/j.ophtha.2012.12.039. PMID: 23511116
Sanchez-Burson J, Garcia-Porrua C, Montero-Granados R, Gonzalez-Escribano F, Gonzalez-Gay MA
Semin Arthritis Rheum 2002 Oct;32(2):125-9. doi: 10.1053/sarh.2002.33718. PMID: 12430100
Matsuo T
Ophthalmology 2002 Jan;109(1):132-6. doi: 10.1016/s0161-6420(01)00850-8. PMID: 11772592

Recent systematic reviews

Southgate G, Clarke P, Harmer MJ
J Nephrol 2023 Mar;36(2):507-519. Epub 2022 Nov 18 doi: 10.1007/s40620-022-01478-8. PMID: 36396848
Regusci A, Lava SAG, Milani GP, Bianchetti MG, Simonetti GD, Vanoni F
Nephrol Dial Transplant 2022 Apr 25;37(5):876-886. doi: 10.1093/ndt/gfab030. PMID: 33561271
Okafor LO, Hewins P, Murray PI, Denniston AK
Orphanet J Rare Dis 2017 Jul 14;12(1):128. doi: 10.1186/s13023-017-0677-2. PMID: 28709457Free PMC Article

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