Renal Arteriovenous Malformation Requiring Surgery in Rendu-Osler-Weber Disease (Hereditary Hemorrhagic Telangiectasia)

Ziani, Mohamed; Valignat, C.; Lopez, Jean-Gabriel; Ruffion, A.; Plauchu, Henri; Perrin, Paul B.

doi:10.1097/00005392-200010000-00034

Cited by 2 publications

(2 citation statements)

References 3 publications

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“…33 Most remain asymptomatic. AVMs have been described rarely in other locations including coronary arteries 37,38 and vessels of eye, 39,40 spleen, 41 urinary tract, 42 and vagina. 43 …”

Section: Arteriovenous Malformationsmentioning

confidence: 99%

Hereditary hemorrhagic telangiectasia: An overview of diagnosis and management in the molecular era for clinicians

Bayrak-Toydemir

Mao

Lewin

et al. 2004

Genetics in Medicine

111

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Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) is a relatively common, underdiagnosed autosomal-dominant disorder of arteriovenous malformations and telangiectases. DNA testing for hereditary hemorrhagic telangiectasia has recently become available in North America, making presymptomatic screening available to relatives with a positive molecular diagnosis. This now enables practitioners to prevent catastrophic complications of undiagnosed pulmonary and CNS arteriovenous malformations and eliminates the need to radiographically screen all at-risk relatives shown to be unaffected by molecular testing. We review the clinical aspects of hereditary hemorrhagic telangiectasia, describe the indications, benefits, and limitations of molecular diagnostic testing for hereditary hemorrhagic telangiectasia, and provide a molecular genetics summary to facilitate genetic counseling before and after DNA testing for this complex disorder. Genet Med 2004:6(4): [175][176][177][178][179][180][181][182][183][184][185][186][187][188][189][190][191].

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“…33 Most remain asymptomatic. AVMs have been described rarely in other locations including coronary arteries 37,38 and vessels of eye, 39,40 spleen, 41 urinary tract, 42 and vagina. 43 …”

Section: Arteriovenous Malformationsmentioning

confidence: 99%

Hereditary hemorrhagic telangiectasia: An overview of diagnosis and management in the molecular era for clinicians

Bayrak-Toydemir

Mao

Lewin

et al. 2004

Genetics in Medicine

111

View full text Add to dashboard Cite

show abstract

“…3 Significant renal and also bladder bleeding has also been reported. 4,5 It may be very useful for individual patients to know if they always have blood in the urine, to inform clinical interpretation of future testing during intercurrent illnesses, and as a safety factor in assessing need for future renal biopsy. We therefore assessed the presence of renal involvement in this cohort, using blood and urine testing, magnetic resonance imaging (MRI) and ultrasound imaging.…”

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confidence: 99%

Absence of renal phenotype in hereditary haemorrhagic telangiectasia

Healy

Nicholls

Gibson

et al. 2018

Internal Medicine Journal

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Hereditary haemorrhagic telangiectasia is characterised by abnormal blood vessel formation, producing telangiectasia and arteriovenous malformations in multiple organs. Information regarding possible renal involvement in hereditary haemorrhagic telangiectasia is limited. This study assessed renal structure and function in 11 patients with genetically confirmed diagnosis and known arteriovenous malformations in lung, liver, gastrointestinal tract or brain. All had significant current or past epistaxis. Despite the vascularity of the kidneys, we found no evidence of renal involvement. This observation warrants further consideration.

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Renal Arteriovenous Malformation Requiring Surgery in Rendu-Osler-Weber Disease (Hereditary Hemorrhagic Telangiectasia)

Cited by 2 publications

References 3 publications

Hereditary hemorrhagic telangiectasia: An overview of diagnosis and management in the molecular era for clinicians

Hereditary hemorrhagic telangiectasia: An overview of diagnosis and management in the molecular era for clinicians

Absence of renal phenotype in hereditary haemorrhagic telangiectasia

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