Natural history of the respiratory involvement in Anderson-Fabry disease
Jazyk angličtina Země Spojené státy americké Médium print-electronic
Typ dokumentu časopisecké články, multicentrická studie, práce podpořená grantem
- MeSH
- alfa-galaktosidasa genetika metabolismus MeSH
- časové faktory MeSH
- dospělí MeSH
- dýchání * MeSH
- Fabryho nemoc enzymologie genetika patofyziologie MeSH
- fenotyp MeSH
- genetická predispozice k nemoci MeSH
- genotyp MeSH
- lidé středního věku MeSH
- lidé MeSH
- mutace MeSH
- následné studie MeSH
- obstrukce dýchacích cest * MeSH
- prognóza MeSH
- progrese nemoci MeSH
- sexuální faktory MeSH
- spirometrie MeSH
- studie případů a kontrol MeSH
- stupeň závažnosti nemoci MeSH
- usilovný výdechový objem MeSH
- věkové faktory MeSH
- vitální kapacita MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- multicentrická studie MeSH
- práce podpořená grantem MeSH
- Geografické názvy
- Česká republika MeSH
- Názvy látek
- alfa-galaktosidasa MeSH
BACKGROUND: Anderson-Fabry disease (AFD) is an X-linked disorder caused by deficient activity of enzyme alpha-galactosidase A, resulting in the accumulation of glycosphingolipids within lysosomes. Pulmonary involvement in AFD has previously been documented, but until now has been studied only in a few series of patients without any longitudinal follow-up. The aim of this study was to compare spirometric changes in AFD patients with a matched control population and to follow the subsequent progression of the disease. MATERIALS AND METHODS: Fifty individuals (27 women, 23 men, mean age 40 +/- 14 years) with AFD from 14 families underwent a static spirometric examination under standard conditions. A set of indices was compared with that of the control population. Out of this cohort, 39 individuals not receiving enzyme replacement therapy were longitudinally evaluated (median follow-up time 24 months). RESULTS: A clinically significant reduction in spirometric parameters, corresponding to mild to severe airway obstruction, was observed in 26% of women and 61% of men. During the serial follow-up, a significant (p < 0.05) age-dependent reduction of predicted %FVC and %FEV1 values was observed in male patients, while the influence of age was not seen in female patients. The %FEF(25-75) values decreased by similar degrees in men and women and in older and younger patients, indicating that progressive bronchial disease affects the small airways first. CONCLUSIONS: We have demonstrated a clinically relevant age- and sex-dependent progressive pulmonary involvement in AFD patients. The effects of enzyme replacement therapy on pulmonary involvement remain to be demonstrated.
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