Symptomatic Children With Hereditary Hemorrhagic Telangiectasia
| Autor: | Salma A. Abdalla, Marie E. Faughnan, Ursula Cymerman, Michelle Letarte, Ian MacLusky, Meir Mei-Zahav |
|---|---|
| Rok vydání: | 2006 |
| Předmět: |
Intracranial Arteriovenous Malformations
Male Pulmonary Circulation Pediatrics medicine.medical_specialty Adolescent Telangiectases Gene mutation Asymptomatic Arteriovenous Malformations Angioma hemic and lymphatic diseases otorhinolaryngologic diseases medicine Humans Child Telangiectasia Lung Vascular disease business.industry Infant Newborn Infant medicine.disease Cross-Sectional Studies Epistaxis medicine.anatomical_structure El Niño Child Preschool Mutation Pediatrics Perinatology and Child Health Female Telangiectasia Hereditary Hemorrhagic medicine.symptom business |
| Zdroj: | Archives of Pediatrics & Adolescent Medicine. 160:596 |
| ISSN: | 1072-4710 |
| Popis: | Objective To assess the clinical and genetic characteristics of symptomatic children with hereditary hemorrhagic telangiectasia (HHT). Design Cross-sectional study. Setting The HHT clinics in Toronto. Participants All children with symptomatic HHT treated from April 1, 1996, through December 31, 2002. Interventions Participants were screened for visceral arteriovenous malformations (AVMs). Molecular testing was performed in the children or their affected family members. Main Outcome Measures Prevalence of epistaxis, telangiectases, pulmonary and cerebral AVMs, and genetic characteristics. Results Fourteen children presented with manifestations of HHT. Seven had cardiorespiratory symptoms related to pulmonary AVMs. Three had neurological symptoms secondary to bleeding from spinal or cerebral AVMs. Two were referred because of skin telangiectases and 2, because of multiple episodes of epistaxis. Screening results revealed a cerebral AVM in 1 of 11 neurologically asymptomatic children. Of the children without respiratory symptoms, 1 was diagnosed as having definite and 1, suspected pulmonary AVMs. Four children with pulmonary AVMs carried an endoglin gene mutation (HHT type 1), and 1 carried an activin receptor–like kinase 1 gene mutation (HHT type 2). The 2 children with spinal AVMs belong to the same HHT type 2 family. No mutation was found in 1 child with pulmonary and 1 with cerebral AVMs. Conclusions Visceral AVMs and mucosal telangiectases are present in children with HHT and can lead to life-threatening events. Failure to identify a disease-associated mutation for each child suggests complex mutations or novel HHT genes. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|