title: The management and treatment of children with Fabry disease: A United States-based perspective.
abstract: Fabry disease is an inherited X-linked disorder that presents during childhood in male and female patients. Young patients may initially experience pain, hypohidrosis, and gastrointestinal symptoms. Other manifestations of Fabry disease, such as renal and cardiac disease, manifest later in adolescence or adulthood. In the pediatric population, renal damage is typically subclinical and identifiable only through biopsy. Specialists from the United States with expertise in Fabry disease convened during 2013-2014 in order to develop these consensus guidelines about the management and treatment of children with Fabry disease. The presence of symptoms in boys and girls of any age is an indication to begin therapy. Early treatment before the onset of potentially irreversible vital organ pathology is ideal. Asymptomatic children with Fabry mutations should be followed closely for the development of renal, cardiac, neurological, or gastrointestinal signs, symptoms, or laboratory changes, which would warrant treatment initiation. A comprehensive care plan should be implemented by the treating physicians to guide the management of children with Fabry disease.
authors.affiliation: Cincinnati Children's Hospital Medical Center Division of Human Genetics, University of Cincinnati College of Medicine, Department of Pediatrics, 3333 Burnet Avenue, Cincinnati, OH 45229-3026, USA. Electronic address: rob.hopkin@cchmc.org.
authors.forename: Robert J
authors.initials: RJ
authors.lastname: Hopkin
authors.affiliation: Cincinnati Children's Hospital Medical Center Division of Human Genetics, University of Cincinnati College of Medicine, Department of Pediatrics, 3333 Burnet Avenue, Cincinnati, OH 45229-3026, USA. Electronic address: john.jefferies@cchmc.org.
authors.forename: John L
authors.initials: JL
authors.lastname: Jefferies
authors.affiliation: Division of Medical Genetics, Department of Human Genetics, Emory University School of Medicine, 2165 North Decatur Road, Decatur, GA 30033, USA. Electronic address: dawn.laney@emory.edu.
authors.forename: Dawn A
authors.initials: DA
authors.lastname: Laney
authors.affiliation: Ohio State University, 395 W. 12th Ave, Columbus, OH 43210, USA; Dartmouth College, Dartmouth Hitchcock Medical Center, Lebanon, Geisel School of Medicine at Dartmouth, One Medical Center Drive, Lebanon, NH 03756-0001, USA. Electronic address: Victoria.H.Lawson@Dartmouth.edu.
authors.forename: Victoria H
authors.initials: VH
authors.lastname: Lawson
authors.affiliation: University of Minnesota, 100 Church St. S.E., Minneapolis, MN 55455, USA. Electronic address: mauer002@umn.edu.
authors.forename: Michael
authors.initials: M
authors.lastname: Mauer
authors.affiliation: University of Colorado, 13001 E 17th Pl., Aurora, CO 80045, USA. Electronic address: Matthew.Taylor@ucdenver.edu.
authors.forename: Matthew R
authors.initials: MR
authors.lastname: Taylor
authors.affiliation: Department of Human Genetics, Emory University School of Medicine, 615 Michael Street, Whitehead 305H, Atlanta, GA 30322, USA. Electronic address: william.wilcox@emory.edu.
authors.forename: William R
authors.initials: WR
authors.lastname: Wilcox
mesh_terms: D002648:Child; D019468:Disease Management; D056947:Enzyme Replacement Therapy; D000795:Fabry Disease / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy*; D006331:Heart Diseases / Q000209:etiology / Q000517:prevention & control; D006801:Humans; D007231:Infant, Newborn; D015997:Neonatal Screening; D051437:Renal Insufficiency / Q000209:etiology / Q000517:prevention & control; D014481:United States; D000519:alpha-Galactosidase / Q000627:therapeutic use*
chemical_list: D000519:alpha-Galactosidase
keywords: Children; Enzyme replacement therapy; Fabry disease; Management; Treatment