*Tubulointerstitial nephritis uveitis syndrome
from the Global Autoimmune Institute List Only
Summary
A rare renal tubular disease characterized by early-onset tubulointerstitial nephritis associated with anterior uveitis.
From the Genetic and Rare Diseases Information Center.
Symptoms
Inflammation of the eye, specifically the uvea (anterior—frequent, posterior—frequent, intermediate—occasional), that does not include granulomas in microscopic examination as part of the inflammation (a.k.a. nongranulomatous uveitis (very frequent))
inflammation of the interstitium surrounding the tubules of the kidney (very frequent)
decreased kidney function (frequent)
fatigue (frequent)
eye pain (frequent)
swelling of the optic disc due to increased cerebral spinal fluid pressure (a.k.a. papilledema (frequent))
red eyes (frequent)
weight loss (frequent)
abdominal pain (occasional)
loss of appetite (a.k.a. anorexia (occasional))
joint pain (a.k.a. arthralgia (occasional))
cataract (occasional)
the creation of new blood vessels in the choroid layer of the eye (a.k.a choroidal neovascularization (occasional))
flank pain (occasional)
muscle pain (a.k.a. myalgia (occasional))
normochromic anemia, red blood cells are normal in color (occasional)
normocytic anemia, red blood cell volume is normal (occasional)
Increased fluid pressure in the eye (a.k.a ocular hypertension (occasional)
panuveitis, inflammation of the uveal tract, affecting the anterior chamber, vitreous, retina or choroid (occasional)
sensitivity to light that causes discomfort or pain (a.k.a. photophobia (occasional))
adhesions between the iris and the lens (a.k.a. posterior synechiae of the anterior chamber (occasional))
reduced hematocrit, reduced ration of red blood cells to total blood volume (occasional)
renal Fanconi syndrome, an inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water (occasional)
renal tubular epithelial necrosis, clotting and death of cells lining the tubules of the kidney (occasional)
retinal vasculitis, inflammation of the blood vessels of the retina (occasional)
scleritis, inflammation of the sclera of the eye (occasional)
skin rash (occasional)
visual impairment (occasional)
vitreous hemorrhage, bleeding within the vitreous chamber of the eye (occasional)
abnormal retinal pigmentation (uncommon)
chorioretinal scar, the formation of fibrous tissue in the choroid and retina of the eye due to wound healing (uncommon)
iris nevus, a benign brown pigmented area over the iris representing proliferation of melanocyte cells in the stromal layer of the iris. An iris nevus can be flat or occasionally slightly elevated (uncommon)
The above symptoms list is adapted from the information available at the Genetic and Rare Diseases Information Center.
Diagnostic Criteria
Under Investigation
Diagnostic Tests
Under Investigation
Human Leukocyte Antigen (HLA) Associations
Under Investigation
Tissue-Type or Cell-Type Attacked
Under Investigation
Attacking Immune Cell Type or Process
Under Investigation
Treatment Modality
Under Investigation
Managing Specialist(s)
Under Investigation
Associated Infections
Under Investigation
Associated Toxins
Under Investigation
Research Authors
Under Investigation
Research Institutions
Under Investigation
Average Time from Symptom Onset to Diagnosis
Under Investigation
Last Updated
October 14, 2022
References
Tubulointerstitial nephritis and uveitis. Genetic and Rare Diseases Information Center. (2021, November 8). Retrieved October 14, 2022, from https://rarediseases.info.nih.gov/diseases/9252/tubulointerstitial-nephritis-and-uveitis