Fabry disease in infancy and early childhood: A systematic literature review

Dawn A. Laney, Dawn S. Peck, Andrea M. Atherton, Linda P. Manwaring, Katherine M. Christensen, Suma Shankar, Dorothy K. Grange, William R. Wilcox, Robert J. Hopkin

Research output: Contribution to journalReview article

28 Citations (Scopus)

Abstract

Fabry disease is a pan-ethnic, progressive, X-linked genetic disorder that commonly presents in childhood and is caused by deficient activity of the lysosomal enzyme alpha-galactosidaseA (α-gal A). Symptoms of Fabry disease in the pediatric population are well described for patients over five years of age; however, data are limited for infancy and early childhood. The purpose of this article is to delineate the age of detection for specific Fabry symptoms in early childhood.Methods:A systematic retrospective analysis of PubMed indexed, peer-reviewed publications and case reports in the pediatric Fabry population was performed to review symptoms in patients reported before 5 years of age.Results:The most frequently reported symptom in all age groups under 5 years was acroparesthesias/neuropathic pain, reported in 9 children, ranging in age from 2.0-4.0 years. Also notable is the frequency of gastrointestinal issues reported in 6 children aged 1.0-4.1 years of age.Conclusion:This article finds clear evidence that symptoms can occur in early childhood, before age 5 years. Given early presenting symptoms and the ability to monitor these disease hallmarks, a timely referral to a medical geneticist or other specialty clinician experienced in managing children with Fabry disease is strongly indicated.

Original languageEnglish (US)
Pages (from-to)323-330
Number of pages8
JournalGenetics in Medicine
Volume17
Issue number5
DOIs
StatePublished - Jan 1 2015
Externally publishedYes

Fingerprint

Fabry Disease
Pediatrics
Inborn Genetic Diseases
Neuralgia
PubMed
Population
Publications
Referral and Consultation
Age Groups
Enzymes

Keywords

  • children
  • Disease
  • newborn screening
  • pediatric
  • symptoms

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Laney, D. A., Peck, D. S., Atherton, A. M., Manwaring, L. P., Christensen, K. M., Shankar, S., ... Hopkin, R. J. (2015). Fabry disease in infancy and early childhood: A systematic literature review. Genetics in Medicine, 17(5), 323-330. https://doi.org/10.1038/gim.2014.120

Fabry disease in infancy and early childhood : A systematic literature review. / Laney, Dawn A.; Peck, Dawn S.; Atherton, Andrea M.; Manwaring, Linda P.; Christensen, Katherine M.; Shankar, Suma; Grange, Dorothy K.; Wilcox, William R.; Hopkin, Robert J.

In: Genetics in Medicine, Vol. 17, No. 5, 01.01.2015, p. 323-330.

Research output: Contribution to journalReview article

Laney, DA, Peck, DS, Atherton, AM, Manwaring, LP, Christensen, KM, Shankar, S, Grange, DK, Wilcox, WR & Hopkin, RJ 2015, 'Fabry disease in infancy and early childhood: A systematic literature review', Genetics in Medicine, vol. 17, no. 5, pp. 323-330. https://doi.org/10.1038/gim.2014.120
Laney DA, Peck DS, Atherton AM, Manwaring LP, Christensen KM, Shankar S et al. Fabry disease in infancy and early childhood: A systematic literature review. Genetics in Medicine. 2015 Jan 1;17(5):323-330. https://doi.org/10.1038/gim.2014.120
Laney, Dawn A. ; Peck, Dawn S. ; Atherton, Andrea M. ; Manwaring, Linda P. ; Christensen, Katherine M. ; Shankar, Suma ; Grange, Dorothy K. ; Wilcox, William R. ; Hopkin, Robert J. / Fabry disease in infancy and early childhood : A systematic literature review. In: Genetics in Medicine. 2015 ; Vol. 17, No. 5. pp. 323-330.
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