title: [Congenital methaemoglobinaemia--a rare cause of dyspnoea and cyanosis].
abstract: Dyspnoea in young people often leads to the diagnosis of asthma. A young female (with related parents) showed symptoms of cyanosis, dyspnoea and fatigue during physical activity despite asthma medication. High levels of methaemoglobin were measured. Genetic testing showed homozygote type 1b5r-deficiency. Cyanosis and lacking effect of asthma treatment should lead to further diagnostic evaluation with arterial blood gas analyses, including assessment of methaemoglobin. Congenitally inherited methaemoglobinaemia is a rare disease, but its diagnosis is important to ensure correct handling and treatment.
authors: Medicinsk Afdeling, Roskilde Sygehus, 4000 Roskilde, Denmark. kbrasmussen@dadlnet.dk
authors: Kirsten Brændholt
authors: KB
authors: Rasmussen
authors: Eline Kirstine
authors: EK
authors: Gantzhorn
mesh_terms: D001249:Asthma / Q000175:diagnosis; D003490:Cyanosis / Q000209:etiology*; D042966:Cytochrome-B(5) Reductase / Q000235:genetics; D003937:Diagnosis, Differential; D004417:Dyspnea / Q000209:etiology*; D005260:Female; D006720:Homozygote; D006801:Humans; D008708:Methemoglobinemia / Q000150:complications / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D055815:Young Adult
chemical_list: D042966:Cytochrome-B(5) Reductase