RESUMO
This case report describes intestinal angiodysplasias as a cause of persisting anaemia in a 16-year-old girl with a failing Fontan circulation. Although this is a very rare cause of anaemia, we highlight the importance of video capsule endoscopy in such patients to initiate a life-saving treatment.
Assuntos
Anemia/etiologia , Angiodisplasia/complicações , Hemorragia Gastrointestinal/complicações , Síndrome do Coração Esquerdo Hipoplásico/complicações , Intestino Delgado/irrigação sanguínea , Adolescente , Anemia/diagnóstico , Angiodisplasia/diagnóstico , Angiodisplasia/cirurgia , Endoscopia por Cápsula/métodos , Feminino , Hemorragia Gastrointestinal/diagnóstico , Hemorragia Gastrointestinal/cirurgia , Humanos , Terapia a Laser/métodosRESUMO
AIM: Osteosarcoma patients receive high doses of methotrexate (MTX). However, pharmacogenetic information remains limited and has mainly been investigated in leukemia so far. PATIENTS & METHODS: We investigated the link between the MTHFR C677T genotype, toxicity levels (mucositis, MTX plasma level, hematological toxicity and hepatotoxicity) and survival of 48 pediatric osteosarcoma patients. RESULTS: The TT genotype did not show more toxicity compared with the CC/CT genotype. However, plasma MTX levels were related with mucositis, but not with hematological toxicity, nor hepatotoxicity. Survival rates did not differ between homozygous and non-homozygous patients. Yet, homozygous patients had higher relapse risk. CONCLUSION: The MTHFR C667T polymorphism is not predictive for toxicity or overall survival, but could be used for relapse risk stratification.