Source national institutes of health nih tinu syndrome as a disease. Which diagnosis is most likely in internal medicine. We describe a 12yearold female, presented with a tenday history of fever, characterized by sudden onset and rapid spontaneous resolution in few hours, accompanied by shivering, extreme fatigue, and loss of appetite. Jan 01, 2006 we report a 17yearold male patient with tubulointerstitial nephritis and uveitis tinu associated with hyperthyroidism. If you have problems viewing pdf files, download the latest version of adobe reader for language access assistance, contact the ncats public information officer genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree. In terms of treatment, renal function could improve. This case illustrates one of the few older patients who developed tinu syndrome, and whose kidney function successfully recovered after a course of steroid treatment.
Pdf tubulointerstitial nephritis and uveitis tinu syndrome. High prevalence of autoantibodies against monomeric c. Tubulointerstitial nephritis with uveitis tinu syndrome is an unusual and under diagnosed cause of acute interstitial nephritis. Autoantibodies to cryptic epitopes of creactive protein and other acute phase proteins in the toxic oil syndrome. A general overview of down syndrome 1 overview of major clinical features neonatal features the diagnosis of down syndrome is generally made at birth on the basis of the physical examination. However, the age of the mother may also be a risk factor. A unique subset of patients with interstitial nephritis has the tinu syndrome tubulointerstitial nephritis and uveitis.
Tubulointerstitial nephritis and uveitis tinu syndrome is a rare disorder defined by the combination of biochemical abnormalities, tubulointerstitial nephritis, and uveitis. Mycophenolate mofetil for the treatment of interstitial nephritis. In this report, we describe a rare case of tubulointerstitial nephritis and uveitis syndrome complicated by immunoglobulin a. Incidence of down syndrome and maternal age maternal age incidence of down syndrome 20 1 in 2000 24 1 in 0 27 1 in 1050 30 1 in 900 33 1 in 600 36 1 in 300 40 1 in 100. Tubulointerstitial nephritis and uveitis syndrome complicated. Sep 12, 2014 tubulointerstitial nephritis and uveitis syndrome is a disorder characterized by a combination of acute tubulointerstitial nephritis and uveitis. The syndrome of tubulointerstitial nephritis and uveitis tinu is a multisystemic autoimmune disorder that may occur in response to various environmental triggers, including drugs and microbial. Evidence exists of hla antigenrelated genetic predisposition to developing tinu. More than 200 cases have been reported worldwide, mostly in the ophthalmology and pediatric medical literature. The 8 patients with definitive or probable tinu syndrome had higher urinary. Acute tubulointerstitial nephritis and uveitis syndrome in. We examined and diagnosed the following 3 patients. Renal biopsy showed a tubulointerstitial nephritis, with.
By continuing to use our website, you are agreeing to our use of cookies. The role of infections and noninfectious causes is speculated in the immune response, leading to the development of the syndrome. The syndrome of tubulointerstitial nephritis with uveitis. Tubulointerstitial nephritis and uveitis syndrome in southern.
Autoimmunity of patients with tinu syndrome sciencedirect. We describe a 12yearold female, presented with a tenday history of fever, characterized by sudden onset and rapid spontaneous resolution in few hours, accompanied by shivering, extreme fatigue, and. Bilateral simultaneousonset nongranulomatous acute anterior. However, recurrences and relapses of uveitis are frequent. Tubulointerstitial nephritis and uveitis syndrome tinu is a rare syndrome less than 12% of all patients seen by ophthalmologists, that was first described in 1975 1. The clinical assessment and management of children, young. Tubulointerstitial nephritis and uveitis tinu syndrome uptodate.
In contrast, immune cells in patients with tinu syndrome have a paradoxical suppression of cytokine production and a decrease in peripheral immune response, as demonstrated by anergy to skin testing. In this report, we describe a rare case of tubulointerstitial nephritis and uveitis syndrome complicated. Tubulointerstitial nephritis and uveitis syndrome in an. Tubulointerstitial nephritis and uveitis tinu syndrome is a rare. When and how quickly ovarian failure occurs in females with turner syndrome is unclear and 2 may be different for each woman with turner syndrome. Transient spontaneous dizziness overview the episodic vestibular syndrome evs is a clinical condition characterized by recurrent dizziness or vertigo that develops acutely over seconds, minutes, or hours. Light chain cast nephropathy myeloma kidney acute phosphate nephropathy.
The tubulointerstitial nephritis and uveitis syndrome. The true prevalence of this syndrome is unknown, likely secondary to poor recognition of the disease 2. Tubulointerstitial nephritis and uveitis syndrome in a twelve. The intellectual achievement of only children journal of. It occurs because of the presence of an extra 21st chromosome. Nov 07, 2005 it has been reported in idiopathic interstitial nephritis,3 drugrelated interstitial nephritis,5 and tinu. The issues families confront need to be recognised and addressed by policy makers. On an average the iq of a patient suffering with down syndrome is 50. Each person inherits 23 chromosomes from their mother and 23 chromosomes from their father. The syndrome of tubulointerstitial nephritis and uveitis tinu is a multisystemic autoimmune disorder that may occur in response to various environmental.
The tubulointerstitial nephritis and uveitis syndrome, survey. Content management system cms task management project portfolio management time tracking pdf. P tinu syndrome is listed as a rare disease by the office of rare diseases ord of the national institutes of health nih. About 200 cases have been reported worldwide with only a single case reported from india. The downs syndrome handbook down syndrome, also called trisomy 21 is the most common cause of mental retardation and malformation in a newborn. We report the clinical course and immunohistochemical analysis of a patient who presented with tubulointerstitial nephritis and uveitis syndrome tinu syndrome. The most common signs and symptoms of uveitis include photophobia, eye pain and redness, eyelid edema and progressive loss of. Tubulointerstitial nephritis, uveitis, hearing loss and. The majority of cases have been documented in the ophthalmology and pediatric nephrology literature via case reports and small descriptive series. Turner syndrome patient fact sheet oncofertility consortium. Common laboratory abnormalities included elevated westergren erythrocyte sedimentation. Tubulointerstitial nephritis and uveitis syndrome in an elde. A case of tubulointerstitial nephritis and uveitis tinu.
Dents disease orphanet journal of rare diseases full text. We report a case of acute interstitial nephritis with renal failure and anterior uveitis that fulfilled the diagnostic criteria for the tinu syndrome and for the sjogren syndrome and raised the question. Tubulointerstitial nephritis and uveitis tinu is a rare medical condition in which there is uveitis inflammation of the uvea in the eye together with tubulointerstitial nephritis inflammation of the tubules inside the kidney. Modified creactive protein might be a target autoantigen of tinu syndrome. Dents disease is a renal tubular disorder characterized by manifestations of proximal tubule dysfunction, including lowmolecularweight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure. Disease pathophysiology down syndrome is a genetically occurred disordered due the presence of third copy of chromosome. Introduction we report a 15 year old boy who presented with tubulo interstitial nephritis and later diagnosed to have uveitis which is a very rare combination of presentation.
Patients and methods the charts of all patients with tinu seen by dr. Down syndrome, it is estimated that the risk of having a second child with down syndrome is about one in 100. The clinical assessment and management of children, 3 young people and adults with down syndrome part i. Cogans syndrome is a rare autoimmune disease with nonsyphilitic interstitial keratitis and auditoryvestibular symptoms occurring within 2 years, sometimes associated with largevessel vasculitis 3, 4. It has been reported in idiopathic interstitial nephritis,3 drugrelated interstitial nephritis,5 and tinu. Diagnosing tubulointerstitial nephritis and uveitis. Tubulointerstitial nephritis and uveitis syndrome tinu. We present a rare case of an elderly patient, who had been suffering from a fever for 2 weeks, characterized by sudden onset and resolving spontaneously, and accompanied by extreme fatigue, loss of appetite, and shivering. Immunomodulatory therapy for chronic tubulointerstitial. Tubulointerstitial diseases of the kidney harrisons. Currently, at months after the diagnosis of tinu syndrome. Topical steroids associated with cycloplegic agents are commonly recommended as a treatment option for anterior uveitis.
Though down syndrome cant be prevented, it can be detected before a child is born. The mean age of presentation is 15 years range 9 to 74years and there is a female preponderance with earlier reports showing a female to male ratio. The median age of onset was 15 years range 974 years with a 3. Noticeably, we did rule out certain autoimmune diseases relatively commonly seen before the diagnosis of tinu syndrome owing to some overlapping manifestations. Down syndrome nearly 5,000 babies are born with down syndrome in the united states each year. A case of acute tubulointerstitial nephritis and uveitis syndrome tinu syndrome in an elderly woman is reported. The diagnosis is tubulointerstitial nephritis and uveitis tinu syndrome. He had iritis, which was complicated by fibrin in the anterior chamber, diagnosed by slitlamp examination. Tinu syndrome, through two observations laidoudi aicha, mohammadlaminedebaghine hospital, algeria coffee break title. The pdf file you selected should load here if your web browser has a pdf reader plugin installed for example, a recent version of adobe acrobat reader if you would like more information about how to print, save, and work with pdfs, highwire press provides a helpful frequently asked questions about pdfs alternatively, you can download the pdf file directly to your computer.
The prevalence of tinu is higher in younger age groups and there is a female. Jun 29, 2018 the inflammation in tinu syndrome is thought to be tlymphocyte driven, based upon the histologic findings. The resulting inflammation affects chiefly the ocular uvea and renal tubules, although other organs may be. The syndrome of tubulointerstitial nephritis with uveitis tinu. Tubulointerstitial nephritis and uveitis tinu syndrome. The inflammation in tinu syndrome is thought to be tlymphocyte driven, based upon the histologic findings. These features are generally found in males only, and may be present in early childhood, whereas female carriers may show. The present case demonstrates that this entity originally observed in children, and more recently in adults, may also occur in the elderly. First described in 1975, more than 250 cases have now been reported. Tubulointerstitial nephritis and uveitis genetic and. The syndrome of tubulointerstitial nephritis and uveitis tinu is a multisystemic autoimmune disorder that may occur in response to various environmental triggers, including drugs and microbial pathogens.
Information regarding age, sex, race, renal biopsy results, interval between kidney and eye involvement, type of uveitis, topical and oral treatment for uveitis, visual acuity at presentation. Keep an eye out for tubulointerstitial nephritis njm. Down syndrome is a congenital disorder stemming from a chromosomal abnormality appearing in about one of every 800 births. Isioma onyekpe1, mohan shenoy1, helen denley2, hany riad3 and nicholas j. He had received topical treatment for suddenonset bilateral anterior uveitis 6. This clinical entity is poorly understood and the diagnosis is frequently delayed as sputum smears are often negative for acid fast bacilli and the chest radiograph can be normal, resulting in diagnostic confusion. Ziehl neelsen staining and empirical treatment may be required after early. S ir, tinu syndrome is a rare autoimmune condition with acute tubulointerstitial nephritis and uveitis 1, 2. The patient, a 40yearold woman, was referred to our hospital with general fatigue and a slight fever from another hospital. The disorder was first described in 1969 by human geneticist meinhard robinow, along with physicians frederic n.
Bell sa, du clos tw, khursigara g, picazo jj, rubin rl. Tinu syndrome, dobrin syndrome, tubulointerstitial. Tuberculous infection of the tracheobronchial tree, termed as endobronchial tuberculosis ebtb, is more common in young adults and females. Although it accounts for 2% of adult and pediatric patients seen at universitybased uveitis practices, its prevalence may be higher because many cases may not be diagnosed 1. Immunoglobulin a nephropathy is defined by the presence of immunoglobulin a deposits in glomerular mesangial areas. The idiopathic tubulointerstitial nephritis and uveitis tinu syndrome is unknown to many clinicians, including rheumatologists. Diagnosis requires the presence of both tubulointerstitial nephritis and uveitis. First described in 1975, 20 tinu syndrome is a rare cause of uveitis originally thought to be more common in young women, 20 with a more recent series reporting an equal sex distribution or even a preponderance of male patients. Down syndrome center for parent information and resources. Successful treatment of progressive renal injury due to granulomatous tubulointerstitial nephritis with uveitis.
Common laboratory abnormalities included elevated westergren erythrocyte sedimentation rates and elevated urinary beta2. Three cases of tubulointerstitial nephritis and uveitis. So the ocular disease may require a lowdose topical treatment regimen for months. Tinu tubulointerstitial nephritis and uveitis syndrome by download pdf 228 kb. Recurrent tubulointerstitial nephritis and uveitis syndrome in a renal transplant recipient. Tubulointerstitial nephritis and uveitis syndrome associated. The interstitial nephritis may precede, follow or develop concurrent to the uveitis. He presented with a 2month history of fatigue, loss of appetite, lowgrade fever, and a 12kg weight loss when he was admitted to our hospital. This means that tinu syndrome, or a subtype of tinu syndrome, affects less than 200,000 people in the us population. The ovaries in women with turner syndrome are often not capable of releasing eggs regularly, or in some cases, at all. Tubulointerstitial nephritis and uveitis syndrome is a disorder characterized by a combination of acute tubulointerstitial nephritis and uveitis. Robinow syndrome is an extremely rare genetic disorder characterized by shortlimbed dwarfism, abnormalities in the head, face, and external genitalia, as well as vertebral segmentation.
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