Characterization of Fabry Disease in 352 Pediatric Patients in the Fabry Registry

Robert J. Hopkin, John Bissler, Maryam Banikazemi, Lorne Clarke, Christine M. Eng, Dominique P. Germain, Roberta Lemay, Anna Tylki-Szymanska, William R. Wilcox

Research output: Contribution to journalArticle

136 Citations (Scopus)

Abstract

Fabry disease is an X-linked lysosomal disease caused by deficiency of α-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 repotted 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.

Original languageEnglish (US)
Pages (from-to)550-555
Number of pages6
JournalPediatric Research
Volume64
Issue number5
DOIs
StatePublished - Nov 1 2008
Externally publishedYes

Fingerprint

Fabry Disease
Registries
Pediatrics
Galactosidases
Deficiency Diseases
Weights and Measures
Left Ventricular Hypertrophy
Neuralgia
Chronic Renal Insufficiency
Age of Onset
Signs and Symptoms
Cardiac Arrhythmias
Quality of Life
Kidney
Pain

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health

Cite this

Hopkin, R. J., Bissler, J., Banikazemi, M., Clarke, L., Eng, C. M., Germain, D. P., ... Wilcox, W. R. (2008). Characterization of Fabry Disease in 352 Pediatric Patients in the Fabry Registry. Pediatric Research, 64(5), 550-555. https://doi.org/10.1203/PDR.0b013e318183f132

Characterization of Fabry Disease in 352 Pediatric Patients in the Fabry Registry. / Hopkin, Robert J.; Bissler, John; Banikazemi, Maryam; Clarke, Lorne; Eng, Christine M.; Germain, Dominique P.; Lemay, Roberta; Tylki-Szymanska, Anna; Wilcox, William R.

In: Pediatric Research, Vol. 64, No. 5, 01.11.2008, p. 550-555.

Research output: Contribution to journalArticle

Hopkin, RJ, Bissler, J, Banikazemi, M, Clarke, L, Eng, CM, Germain, DP, Lemay, R, Tylki-Szymanska, A & Wilcox, WR 2008, 'Characterization of Fabry Disease in 352 Pediatric Patients in the Fabry Registry', Pediatric Research, vol. 64, no. 5, pp. 550-555. https://doi.org/10.1203/PDR.0b013e318183f132
Hopkin, Robert J. ; Bissler, John ; Banikazemi, Maryam ; Clarke, Lorne ; Eng, Christine M. ; Germain, Dominique P. ; Lemay, Roberta ; Tylki-Szymanska, Anna ; Wilcox, William R. / Characterization of Fabry Disease in 352 Pediatric Patients in the Fabry Registry. In: Pediatric Research. 2008 ; Vol. 64, No. 5. pp. 550-555.
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