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Vol. 57. Núm. 1.
Páginas 45-50 (julio 2002)
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Vol. 57. Núm. 1.
Páginas 45-50 (julio 2002)
Acceso a texto completo
Enfermedad de Fabry: reconocimiento en la edad pediátrica
Fabry'S Disease: Diagnosis In The Pediatric Age Group
Visitas
17901
G. Pintos Morell
Autor para correspondencia
gpintos@ns.hugtip.scs.es

Correspondencia: Servicio de Pediatría. Hospital Universitario Germans Trías i Pujol. Ctra. de Canyet, s/n. 08916 Barcelona. España.
Unidad de Nefrología y Metabolismo Pediátricos. Servicio de Pediatría. Hospital Universitario Germans Trías i Pujol. Universidad Autónoma de Barcelona. España.
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Información del artículo
Objetivo

La enfermedad de Fabry es la segunda alteración más frecuente por acumulación lisosómica de glucoesfingolípidos (después de la enfermedad de Gaucher). La sintomatología típica de la enfermedad suele empezar a manifestarse a partir de la primera década de la vida. Los síntomas del proceso, como dolor neuropático, afectación gastrointestinal con dolor abdominal, vómitos y diarreas, y manifestaciones cutáneas (angioqueratoma), son motivo de una importante afectación de la calidad de vida. Sin embargo, el diagnóstico de la enfermedad suele hacerse de manera muy diferida, por lo general en el adulto de 20-30 años. Así pues, la finalidad de esta revisión es llamar la atención a la comunidad pediátrica sobre las manifestaciones de la enfermedad de Fabry en el niño, especialmente en este momento en que un tratamiento de sustitución enzimática ha demostrado su efectividad para conseguir la regresión de la enfermedad.

Método

Revisión de la bibliografía dirigida a ofrecer el máximo de información sobre las manifestaciones pediátricas de la enfermedad de Fabry.

Resultados

La sintomatología más frecuente en menores de 16 años consiste en dolor neuropático, angioqueratoma, dolores abdominales, vómitos y diarreas, hipoacusia, proteinuria, alteraciones oftalmológicas, hipohidrosis, fiebre y fenotipo facial característico. La enfermedad de Fabry de inicio en la infancia suele diagnosticarse, en promedio, unos 10 años después del inicio de la sintomatología.

Conclusiones

Un reconocimiento progresivo de la enfermedad de Fabry en la infancia puede permitir el diagnóstico rápido y la instauración de un tratamiento eficaz, evitando la progresión de ésta.

Palabras clave:
Enfermedad de Fabry
Enfermedad por acumulación lisosómica
Infancia
Tratamiento sustitutivo enzimático
Objective

Fabry's disease is the second most frequent alteration of glycosphingolipid lysosomal storage diseases (after Gaucher's disease). Typical symptomatology starts in the first decade of life. Neuropathic pain, gastrointestinal involvement with abdominal pain, vomiting and diarrhea and cutaneous manifestations (angiokeratoma) significantly impair quality of life. However, diagnosis is usually made late, in adults aged 20-30 years old. Thus, the aim of this review is to draw pediatricians' attention to the manifestations of Fabry's disease in infancy and childhood, especially now that enzymatic replacement therapy with proven efficacy is available.

Method

We performed an extensive literature review to present the maximum available information on the pediatric manifestations of Fabry's disease.

Results

The most frequent symptomatology before the age 16 years includes neuropathic pain, angiokeratoma, abdominal pain, vomiting, diarrhea, hypoacousia, proteinuria, ophthalmologic alterations, hypohidrosis, fever, and characteristic facial phenotype. The onset of Fabry's disease may occur in infancy but the mean delay in diagnosis is 10 years after the first symptoms.

Conclusions

Increased awareness of Fabry's disease in infancy and childhood could lead to early diagnosis and treatment thus avoiding disease progression.

Key words:
Fabry disease
Lysosomal storage disease
Infancy
Enzymatic replacement therapy
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