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Genet Med. 2015 May;17(5):323-30. doi: 10.1038/gim.2014.120. Epub 2014 Sep 18.

Fabry disease in infancy and early childhood: a systematic literature review.

Author information

1
Division of Medical Genetics, Department of Human Genetics, Decatur, Georgia, USA.
2
Division of Medical Genetics, University of Missouri Children's Hospital, University of Missouri Health System, Columbia, Missouri, USA.
3
Section of Genetics, Children's Mercy Hospitals, Kansas City, Missouri, USA.
4
Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis Children's Hospital, St. Louis, Missouri, USA.
5
Division of Medical Genetics, SSM Cardinal Glennon Children's Medical Center, St. Louis, Missouri, USA.
6
Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Missouri, USA.

Abstract

PURPOSE:

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.

PMID:
25232851
DOI:
10.1038/gim.2014.120
[Indexed for MEDLINE]
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