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Published in: Pediatric Nephrology 5/2004

01-05-2004 | Clinical Quiz

Answer

Authors: Didem Yeşilırmak, Alper Soylu, Mustafa Olguner, Mehmet Türkmen, Salih Kavukçu

Published in: Pediatric Nephrology | Issue 5/2004

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Excerpt

1.
Recurrent epistaxis and painless episodes of hematuria in association with a history of two siblings with recurrent epistaxis but no laboratory evidence of hematuria led to the presumptive diagnosis of hereditary hemorrhagic telangiectasia (HHT) in the patient. A nasal endoscopic evaluation demonstrating multiple telangiectases in the anterior nasal septum and medial concha confirmed the diagnosis.
 
2.
Cystoscopy of the urinary bladder is the most helpful diagnostic method for this patient. Many tortuous and engorged vessels were seen by this evaluation in the bladder mucosa (Fig. 1).
 
Literature
1.
go back to reference Guttmacher AE, Marchuk DA, White RI (1995) Hereditary hemorrhagic telangiectasia. N Engl J Med 333:918–924PubMed Guttmacher AE, Marchuk DA, White RI (1995) Hereditary hemorrhagic telangiectasia. N Engl J Med 333:918–924PubMed
2.
go back to reference Braverman IM, Keh A, Jacobson BS (1990) Ultrastructure and three-dimensional organization of the telangiectases of hereditary hemorrhagic telangiectasia. J Invest Dermatol 95:422–427PubMed Braverman IM, Keh A, Jacobson BS (1990) Ultrastructure and three-dimensional organization of the telangiectases of hereditary hemorrhagic telangiectasia. J Invest Dermatol 95:422–427PubMed
3.
go back to reference Vincent P, Plauchu H, Hazan J, Faure S, Weissenbach J, Godet J (1995) A third locus for hereditary hemorrhagic telangiectasia maps to chromosome 12q. Hum Mol Genet 4:945–950PubMed Vincent P, Plauchu H, Hazan J, Faure S, Weissenbach J, Godet J (1995) A third locus for hereditary hemorrhagic telangiectasia maps to chromosome 12q. Hum Mol Genet 4:945–950PubMed
4.
go back to reference Marchuk DA, Guttmacher AE, Penner JA, Ganguly P (1998) Report on the workshop on hereditary hemorrhagic telangiectasia, 10–11 July 1997. Am J Med Genet 76:269–273CrossRefPubMed Marchuk DA, Guttmacher AE, Penner JA, Ganguly P (1998) Report on the workshop on hereditary hemorrhagic telangiectasia, 10–11 July 1997. Am J Med Genet 76:269–273CrossRefPubMed
5.
go back to reference Darmstadt GL (2000) Vascular disorders. In: Behrman E, Kliegman M, Jenson B (eds) Nelson textbook of pediatrics, 16th edn. Saunders, Philadelphia, pp 1975–1979 Darmstadt GL (2000) Vascular disorders. In: Behrman E, Kliegman M, Jenson B (eds) Nelson textbook of pediatrics, 16th edn. Saunders, Philadelphia, pp 1975–1979
6.
go back to reference White RI Jr, Lynch Nyhan A, Terry P, Buescher PC, Farmlett EJ, Charnas L, Shuman K, Kim W, Kinnison M, Mitchell SE (1988) Pulmonary arteriovenous malformation: techniques and long term outcome of embolotherapy. Radiology 169:663–669PubMed White RI Jr, Lynch Nyhan A, Terry P, Buescher PC, Farmlett EJ, Charnas L, Shuman K, Kim W, Kinnison M, Mitchell SE (1988) Pulmonary arteriovenous malformation: techniques and long term outcome of embolotherapy. Radiology 169:663–669PubMed
7.
go back to reference Fulbright RK, Merriam MA, Fayad PB, Sze GK, Egglin TK, White RI Jr (1994) Hereditary hemorrhagic telangiectasia: correlation of MR imaging and clinical findings in 130 patient (abstract). Radiology 193 [Suppl]:211 Fulbright RK, Merriam MA, Fayad PB, Sze GK, Egglin TK, White RI Jr (1994) Hereditary hemorrhagic telangiectasia: correlation of MR imaging and clinical findings in 130 patient (abstract). Radiology 193 [Suppl]:211
8.
go back to reference Paz A, Goren E, Segal M (1995) Hereditary hemorrhagic telangiectasia presenting with hematuria and severe anemia. Harefuah 24:78–79 Paz A, Goren E, Segal M (1995) Hereditary hemorrhagic telangiectasia presenting with hematuria and severe anemia. Harefuah 24:78–79
9.
go back to reference Kitchens CS, Lottenberg R (1976) Chronic painless hematuria and urethral bleeding as presenting manifestations of Osler Weber Rendu Disease. J Urol 116:681–682 Kitchens CS, Lottenberg R (1976) Chronic painless hematuria and urethral bleeding as presenting manifestations of Osler Weber Rendu Disease. J Urol 116:681–682
10.
go back to reference Haitjema T, Westermann CJJ, Overtoom TTC, Timmer R, Disch F, Mauser H, Lammers JWJ (1996) Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu Disease). New insights in pathogenesis, complications, and treatment. Arch Intern Med 156:714–719CrossRefPubMed Haitjema T, Westermann CJJ, Overtoom TTC, Timmer R, Disch F, Mauser H, Lammers JWJ (1996) Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu Disease). New insights in pathogenesis, complications, and treatment. Arch Intern Med 156:714–719CrossRefPubMed
Metadata
Title
Answer
Authors
Didem Yeşilırmak
Alper Soylu
Mustafa Olguner
Mehmet Türkmen
Salih Kavukçu
Publication date
01-05-2004
Publisher
Springer-Verlag
Published in
Pediatric Nephrology / Issue 5/2004
Print ISSN: 0931-041X
Electronic ISSN: 1432-198X
DOI
https://doi.org/10.1007/s00467-004-1415-2

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