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FABRY DISEASE – CLINICAL MANIFESTATIONS AND GENETICS
Author(s) -
Karetova D.,
Bultas J.,
Linhart A.,
Lubanda J.C.,
Magage S.,
Uklikova P.,
Palecek T.,
Ledvinova J.,
Poupetova H.,
Dobrovolny R.,
Hrebicek M.,
Elleder M.
Publication year - 2006
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.2006.tb02401.x
Subject(s) - medicine , fabry disease , cohort , correlation , incidence (geometry) , disease , age of onset , gastroenterology , physics , geometry , mathematics , optics
Background : The severity of organ impairment in heterozygous females with Fabry disease may be as serious as in males. It has been repeatedly shown that the incidence of affected organs increases with age and comes one decade later than in males. Besides age, the process of X inactivation also has an important influence. The ratio between inactivated normal and defective chromosomes could influence the level of the key enzyme: α‐galactosidase A. We have tried to prove this hypothesis. Methods and Results : Analysis of this relationship was carried out in a cohort of 54 heterozygous females (average age, 41.2 years) from 16 families. Diagnosis of Fabry disease was based on the identification of a chromosomal defect. We used the Mainz Severity Score Index to evaluate the extent of disease. To clarify the relationship between levels of α‐galactosidase A in leukocytes, age and organ impairment, we conducted multivariant analysis. The correlation coefficients were highly significant for age (r = 0.5765, p < 0.0001) and for α‐galactosidase A activity (r = − 0.4856, p < 0.05). For better demonstration of the relationship, the cohort of women was divided into tertiles according to age and α‐galactosidase A activity in leukocytes ( Figure 1). 1Correlation between the Mainz Severity Score Index (MSSI), age and α‐galactosidase A activity in leukocytes (nmol/h/mg) in females with Fabry diseaseConclusion : From the presented graph and correlation analysis it is clear that, in addition to age, the level of α‐galactosidase A in leukocytes is also an important predictor of the degree of organ involvement in heterozygous females with Fabry disease.