RESUMO
Cystic fibrosis is a recessive autosomal disease caused by mutations in the cystic fibrosis transmembrane conductance regulator gene. Cystic fibrosis-related diabetes (CFRD) is a common comorbidity of cystic fibrosis. Diabetic myonecrosis is a rare self-limited complication of poorly controlled diabetes mellitus that commonly presents with acute, intense pain and swelling of lower extremities and responds well to conservative management. We report the first case of diabetic myonecrosis in a patient with CFRD.
Assuntos
Fibrose Cística , Complicações do Diabetes , Doenças Musculares , Adulto , Fibrose Cística/complicações , Fibrose Cística/diagnóstico por imagem , Complicações do Diabetes/complicações , Complicações do Diabetes/diagnóstico por imagem , Humanos , Masculino , Doenças Musculares/diagnóstico por imagem , Doenças Musculares/etiologia , Necrose , RadiografiaRESUMO
AIMS: We tested the hypothesis that genetic variation in vitamin D-dependent signaling is associated with congestive heart failure in human subjects with hypertension. MATERIALS & METHODS: Functional polymorphisms were selected from five candidate genes: CYP27B1, CYP24A1, VDR, REN and ACE. Using the Marshfield Clinic Personalized Medicine Research Project, we genotyped 205 subjects with hypertension and congestive heart failure, 206 subjects with hypertension alone and 206 controls (frequency matched by age and gender). RESULTS: In the context of hypertension, a SNP in CYP27B1 was associated with congestive heart failure (odds ratio: 2.14 for subjects homozygous for the C allele; 95% CI: 1.05-4.39). CONCLUSION: Genetic variation in vitamin D biosynthesis is associated with increased risk of heart failure.
