Tubulointerstitial nephritis and uveitis syndrome in a mother and her son
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BRIEF REPORT
Tubulointerstitial nephritis and uveitis syndrome in a mother and her son Jiri Dusek & Ivana Urbanova & Josef Stejskal & Tomas Seeman & Karel Vondrak & Jan Janda
Received: 26 February 2008 / Revised: 30 April 2008 / Accepted: 7 May 2008 / Published online: 5 June 2008 # IPNA 2008
Abstract A mother and her son, both with tubulointerstitial nephritis and uveitis syndrome (TINU) are reported. The nephritis presented itself at 13 years in the mother and at 10 years in her son. Glomerular filtration (GFR) decreased in both, and renal biopsies confirmed the diagnosis. Nephritis preceded the onset of uveitis in both. Clinical course and renal function improved quickly on oral steroids in the boy. The mother’s hyperazotemia decreased spontaneously (without steroids), but not to normal range, and remained stable for 35 years of follow-up. Local steroids due to recurrences of uveitis were repeatedly needed in both. We believe this is the first report on familial occurrence of inherited TINU syndrome in two generations.
erythrocyte sedimentation rate (ESR), hypergammaglobulinemia, and bone marrow granulomas [1]. This disease was named tubulointerstitial nephritis and uveitis syndrome (TINU) syndrome by Vanhaesebrouck et al. [2]. More than 150 patients, mainly female, have been reported to date. The pathogenesis of idiopathic TINU syndrome remains unclear, but a lymphocyte-mediated immune mechanism to a common antigen present in the tubulointerstitium and uvea has been suggested [3]. Familial TINU occurrence is quite rare. It has been reported in identical twins (boys or girls) and two pairs of sisters so far [4–7]. Here we report TINU syndrome in two generations of the same family.
Keywords Familial idiopathic tubulointerstitial nephritis . Uveitis
Case reports Case 1
Introduction In 1975, Dobrin et al. described two patients with bilateral anterior uveitis, acute tubulointerstitial nephritis and high J. Dusek (*) : T. Seeman : K. Vondrak : J. Janda Department of Pediatrics, University Hospital Motol, Charles University, 2nd Medical School, V Úvalu 84, 150 00 Prague 5, Czech Republic e-mail: [email protected] I. Urbanova Department of Pediatrics, University Hospital Na Bulovce, Charles University Prague, Prague, Czech Republic J. Stejskal Department of Pathology and Molecular Medicine, University Hospital Motol, Charles University Prague, 2nd Medical School, Prague, Czech Republic
A 13-year-old girl (now the mother of case 2 reported here) was admitted in December 1972 to our hospital with acute renal dysfunction, with blood urea nitrogen (BUN) of 47.6 mg/dl and creatinine 344 μmol/L and clinical symptoms of TIN. She presented without significant complaints or symptoms of systemic disease (skin rash, arthralgia, or virus infection). There was no history of medication. Urinalysis revealed mild tubular proteinuria (0.5–1 g/24 h) and glucosuria, eosinophiluria was not examined, glomerular filtration rate (GFR) (estimated by creatinine clearance) decreased to 23 ml/min per 1.73 m2. Renal biopsy showed int
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