Natural course of Fabry disease with the p. Arg227Ter (p.R227*) mutation in Finland: Fast study
Autor: | Maria Saarenhovi, Reijo Autio, Jukka T. Saarinen, Maria Haanpää, Päivi Pietilä‐Effati, Ilkka Kantola, Eliisa Löyttyniemi |
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Jazyk: | angličtina |
Rok vydání: | 2019 |
Předmět: |
0301 basic medicine
Male genotype Disease 030105 genetics & heredity Severity of Illness Index gender Medicine Stroke Genetics (clinical) Finland Aged 80 and over Proteinuria medicine.diagnostic_test cardiac hypertrophy Brain Atrial fibrillation Middle Aged Magnetic Resonance Imaging Codon Nonsense Cardiology Original Article Female medicine.symptom Adult medicine.medical_specialty Adolescent lcsh:QH426-470 phenotype Late onset Asymptomatic White People 03 medical and health sciences Young Adult disease progression Cardiac magnetic resonance imaging Internal medicine Genetics Humans Molecular Biology Genetic Association Studies Aged Fabry disease business.industry Original Articles medicine.disease lcsh:Genetics 030104 developmental biology alpha-Galactosidase late‐onset business |
Zdroj: | Molecular Genetics & Genomic Medicine, Vol 7, Iss 10, Pp n/a-n/a (2019) Molecular Genetics & Genomic Medicine |
ISSN: | 2324-9269 |
Popis: | Background Fabry disease is caused by a deficient or an absent alfa‐galactosidase A activity and is an X‐linked disorder that results in organ damage and a shortened life span, especially in males. The severity of the disease depends on the type of mutation, gender, skewed X‐chromosome inactivation, and other still unknown factors. Methods In this article, we describe the natural course of a common classic Fabry disease mutation, p.Arg227Ter or p.R227*, in Finland. Results Four males and ten females belonged to two extended families. The mean age was 46 years (SD 18.4). Six patients (43%) had cardiac hypertrophy, three patients (21%) had ischemic stroke, and none had severe kidney dysfunction. Three patients had atrial fibrillation; two patients who had atrial fibrillation also had pacemakers. All males over 30 years of age had at least one of the following manifestations: cardiac hypertrophy, stroke, or proteinuria. In females, the severity of Fabry disease varied from classic multiorgan disease to a condition that mimicked the attenuated cardiac variant. No one was totally asymptomatic without any signs of Fabry disease. Cardiac magnetic resonance imaging was performed on nine of 14 patients was the most sensitive for detecting early cardiac manifestations. Five patients (55%) had late gadolinium enhancement‐positive segments. Conclusion Cardiac involvement should be effectively detected in females before considering them asymptomatic mutation carriers. |
Databáze: | OpenAIRE |
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