Kidney stone and urinary bladder telangiectasia in a patient with TAR syndrome.

TAR syndrome is a congenital malformation syndrome characterized by bilateral absence of the radius and thrombocytopenia. The known urinary anomalies are duplex ureter, dilatation of renal pelvis, horseshoe kidney and functional problems like vesicoureteral reflux and pyelonephritis. In this report of a case with TAR syndrome, a kidney stone and bladder telangiectasia were found coincidentally during the investigation of hematuria. TAR syndrome is discussed in the light of the medical literature. To our knowledge, no case has been reported demonstrating nephrolithiasis and bladder telangiectasia in TAR patients.

[1]  P. Kincaid‐smith,et al.  The investigation of hematuria. , 2005, Seminars in nephrology.

[2]  M. Olguner,et al.  Clinical quiz. Hereditary hemorrhagic telangiectasia. , 2004, Pediatric nephrology.

[3]  H. Brunner,et al.  Thrombocytopenia-absent radius syndrome: a clinical genetic study , 2002, Journal of medical genetics.

[4]  J. Foreman,et al.  Thrombocytopenia and absent radii (TAR) syndrome associated with horseshoe kidney , 2000, Pediatric Nephrology.

[5]  M. Bülbül,et al.  Etiological and clinical patterns of urolithiasis in Turkish children. , 1997, European urology.

[6]  K. Wachtell,et al.  [Nephrocalcinosis and urolithiasis as primary symptoms in Boeck's sarcoidosis]. , 1996, Ugeskrift for laeger.

[7]  J. Lipton,et al.  Thrombocytopenia with absent radii. A review of 100 cases. , 1988, The American journal of pediatric hematology/oncology.

[8]  E. Zackai,et al.  Thrombocytopenia with absent radius in a boy and his uncle. , 1987, American journal of medical genetics.

[9]  L. T. Vlasveld,et al.  Intractable bladder haemorrhage due to bladder fibrosis and telangiectasia associated with long-term cyclophosphamide therapy. , 1987, The Netherlands journal of medicine.

[10]  P. Manske,et al.  Dysplasia of the knee associated with the syndrome of thrombocytopenia and absent radius. , 1984, The Journal of bone and joint surgery. American volume.

[11]  H. Hoyme,et al.  Vascular pathogenesis of limb defects. I. Radial artery anatomy in radial aplasia. , 1982, The Journal of pediatrics.

[12]  L. Bartoshesky,et al.  New features of thrombocytopenia and absent radius syndrome. , 1982, Birth defects original article series.

[13]  L. Travis,et al.  The association of idiopathic hypercalciuria and asymptomatic gross hematuria in children. , 1982, The Journal of pediatrics.

[14]  V. Tolo.  Congenital absence of the menisci and cruciate ligaments of the knee. A case report. , 1981, The Journal of bone and joint surgery. American volume.

[15]  M. Whitfield,et al.  Cows' milk allergy in the syndrome of thrombocytopenia with absent radius. , 1976, Archives of disease in childhood.

[16]  W. Johnson,et al.  Urinary-bladder fibrosis and telangiectasia associated with long-term cyclophosphamide therapy. , 1971, The New England journal of medicine.

[17]  V. McKusick,et al.  THROMBOCYTOPENIA WITH ABSENT RADIUS (TAR) , 1969, Medicine.