The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents

Abstract

Fabry disease usually becomes clinically manifest in childhood. Renal involvement can begin in adolescence. The diagnosis is made following a high level of suspicion or systematic pedigree analysis. It is crucial for paediatric Fabry disease patients to have early access to optimal supportive symptomatic management. Enzyme replacement therapy has shown promising effectiveness in adults. Considering its widespread therapeutic and potential preventive benefits, enzyme replacement therapy should be initiated at an early stage, prior to the onset of irreversible complications.

Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns

“…Although Fabry disease was suspected in patient 1, the onset was much earlier than has been reported in pediatric Fabry disease patients. 29,30 In addition, the build up of GL-3 has not been observed. The pain in the extremities was not neuronopathic and the renal biopsy showed no findings suggestive of Fabry disease.…”

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

“…13,15,16,[26][27][28][29][30][31][32] (Table 1). Notably, most children (boys and girls) younger than 5 years of age in the literature are reported to have only one or two of these most frequent symptoms.…”

“…13,16,27,28,31,[38][39][40][41] Although not as common in the population younger than 5 years of age, children affected by Fabry disease can exhibit reduced sweating or hypohidrosis, as found and reported in four children ages 2.5-4.0 years. 16,41 This may combine with autonomic dysfunction to result in exercise and heat intolerance, although it has not been studied in children younger than age 5. 42,43 Early microvascular cerebral involvement in the form of white matter lesions has been demonstrated by magnetic resonance imaging in asymptomatic patients as young as 8 years of age.…”

“…13,14 Although not typically life threatening, these symptoms clearly impact the health and function of affected children, both boys and girls. [13][14][15][16] The limited information available on Fabry disease in early childhood has made application of the guidelines of the pediatric Fabry Registry and American College of Medical Genetics and Genomics difficult in the population of children diagnosed prenatally or during infancy. 17,18 A better understanding of the manifestations of Fabry disease and its effects during the newborn and early childhood period will provide valuable information on disease progression and assist clinicians in SyStematic Review personalizing published monitoring and management guidelines from birth.…”

Fabry Disease: Symptoms in Children and Teenagers

“…Из фармакологических препаратов в коррекции гастроинтестинальных симптомов при болезни Фабри наиболее часто используют метоклопрамид и панкреа-тин [57,58].…”