Abstract |
Fabry disease is an X-linked lysosomal disease caused by deficiency of alpha-galactosidase A. Signs and symptoms of Fabry disease occurring during childhood and adolescence were characterized in 352 Fabry Registry patients. At enrollment (median age 12 year), 77% of males and 51% of females reported symptoms. The median age of symptom onset was 6 year in males and 9 year in females. The most frequent symptom, neuropathic pain, was reported by 59% of males (median age 7 year) and 41% of females (median age 9 year). Gastrointestinal symptoms were reported by 18% of children (median age 5 year in males and 9.5 year in females). Males exhibited height and weight values below the US 50th percentile. Females had weight values above the US 50th percentile. A few patients had serious renal and cardiac manifestations, stage 2 or 3 chronic kidney disease (n = 3), arrhythmia (n = 9), and left ventricular hypertrophy (n = 3). Thus, many pediatric Fabry patients report early symptoms, particularly pain, gastrointestinal symptoms, and impaired quality of life. Some children experience major complications during the pediatric years.
|
Authors | Robert J Hopkin, John Bissler, Maryam Banikazemi, Lorne Clarke, Christine M Eng, Dominique P Germain, Roberta Lemay, Anna Tylki-Szymanska, William R Wilcox |
Journal | Pediatric research
(Pediatr Res)
Vol. 64
Issue 5
Pg. 550-5
(Nov 2008)
ISSN: 1530-0447 [Electronic] United States |
PMID | 18596579
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
|
Chemical References |
|
Topics |
- Adolescent
- Age of Onset
- Arrhythmias, Cardiac
(etiology)
- Body Height
- Body Temperature Regulation
- Body Weight
- Child
- Child, Preschool
- Chronic Disease
- Fabry Disease
(complications, drug therapy, physiopathology)
- Female
- Gastrointestinal Diseases
(etiology)
- Humans
- Hypertrophy, Left Ventricular
(etiology)
- Infant
- Kidney Diseases
(etiology)
- Male
- Neuralgia
(etiology)
- Quality of Life
- Registries
(statistics & numerical data)
- Sweating
- alpha-Galactosidase
(therapeutic use)
|