Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry.
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.
Hopkin
Robert J
RJ
Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229, USA. rob.hopkin@cchmc.org
Bissler
John
J
Banikazemi
Maryam
M
Clarke
Lorne
L
Eng
Christine M
CM
Germain
Dominique P
DP
Lemay
Roberta
R
Tylki-Szymanska
Anna
A
Wilcox
William R
WR
D000293:Adolescent; D017668:Age of Onset; D001145:Arrhythmias, Cardiac / Q000209:etiology; D001827:Body Height; D001833:Body Temperature Regulation; D001835:Body Weight; D002648:Child; D002675:Child, Preschool; D002908:Chronic Disease; D000795:Fabry Disease / Q000150:complications* / Q000188:drug therapy / Q000503:physiopathology; D005260:Female; D005767:Gastrointestinal Diseases / Q000209:etiology; D006801:Humans; D017379:Hypertrophy, Left Ventricular / Q000209:etiology; D007223:Infant; D007674:Kidney Diseases / Q000209:etiology; D008297:Male; D009437:Neuralgia / Q000209:etiology; D011788:Quality of Life; D012042:Registries / Q000706:statistics & numerical data; D013546:Sweating; D000519:alpha-Galactosidase / Q000627:therapeutic use
D000519:alpha-Galactosidase