Research Article
Clinical and Genetic Features of Tubulointerstitial Nephritis and Uveitis Syndrome with Long-Term Follow-Up
| | Case | Type | Age | Gender | Side | Family history | Days between the first sign of uveitis and consultation (day) | Presenting symptoms | First sign uveitis or TIN | Uveitis | Visual acuity | IOP | Urinalysis | Blood test | Renal biopsy | | Anterior | Posterior | Initial | Last | Initial (mmHg) | Initial β2-MG (μg/L) | Initial NAG (U/L) | Initial Cr (mg/dl) | Initial eGFR (l/min/1.73m2) |
| | 1 | Definite | 24 | Female | Both | Grandmother: renal failure
Brother: diabetes mellitus | 9 | Eye pain
Eye redness | TIN (proteinuria) | + | − | R
L | 30/20
30/20 | 30/20
30/20 | 10
10 | 32700 | 20.6 | 1.00 | 57.6 | + | | 2 | Probable | 14 | Female | Both | Mother: glaucoma | 7 | Eye pain
eye Redness
decreased in vision | Uveitis | + | − | R
L | 14/20
30/20 | 30/20
30/20 | 9
9 | 2340 | 13.8 | 0.65 | 105.6 | − | | 3 | Definite | 13 | Female | Both | − | 90 | Eye redness
Decreased in vision | TIN
(proteinuria) | +
Posterior synechiae | Cells in the anterior vitreous, retinal exudates, and optic disk swelling | R
L | 18/20
12/20 | 30/20
24/20 | 11
11 | 2630 | 5.2 | 0.80 | 87.7 | + | | 4 | Probable | 15 | Male | Both | − | 7 | Eye pain
Eye redness
decreased in vision | Uveitis | + | Cells in the anterior vitreous, vasculitis, and optic disk swelling | R
L | 20/20
20/20 | 30/20
24/20 | 10
11 | 9600 | 19.5 | 1.00 | 89.2 | − | | 5 | Probable | 13 | Male | Both | − | 2 | Eye pain
Eye redness | Uveitis | + | − | R
L | 30/20
30/20 | 30/20
30/20 | 13
11 | 3460 | n.d. | 0.80 | n.d. | − |
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TIN: tubulointerstitial nephritis; IOP: intraocular pressure; R: right eye; L: left eye; n.d.: not done; β2-MG: β2 microglobulin; NAG: N-acetylglucosaminidase; Cr: creatinine; eGFR: estimated glomerular filtration rate.
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