Infantile-onset Pompe disease in seven Mexican children.

Autor:	Sánchez-Sánchez LM; Pediatrcs Department, Specialty Hospital 25, Instituto Mexicano del Seguro Social, Nuevo León., Ávila-Rejón C; Department of Genetics, Specialty Hospital 14, Instituto Mexicano del Seguro Social, Veracruz., Díaz-Martínez R; Department of Genetics, High Specialty Children's Regional Hospital 'Dr. Rodolfo Nieto Padrón', Secretaría de Salud, Tabasco., Díaz-Murillo B; Pediatrics Department, Zone 1 General Hospital, Instituto Mexicano del Seguro Social, Baja California Sur., Kazakova E; Medical Department for Rare Diseases, Sanofi High Specialty, Mexico City., López-Valdez J; Department of Genetics, Centenario Hospital 'Miguel Hidalgo', Secretaría de Salud, Aguascalientes., Martínez-Montoya V; Medical Department for Rare Diseases, Sanofi High Specialty, Mexico City., Olaiz-Urbina J; Pediatrics Department, Zone 1 General Hospital, Instituto Mexicano del Seguro Social, Baja California Sur., Radillo-Díaz P; Medical Department for Rare Diseases, Sanofi High Specialty, Mexico City., Ricárdez-Marcial E; Department of Genetics, Centro Médico Nacional La Raza, Instituto Mexicano del Seguro Social, Mexico City., Sandoval-Pacheco R; Pediatric Emergency Department, Hospital Central Militar, Secretaría de la Defensa Nacional, Mexico City., Torres-Octavo B; Laboratory of Thin Nervous Fiber, Instituto Nacional de Ciencias Médicas y Nutrición 'Salvador Zubirán', Mexico City., Vergara-Sánchez I; Department of Pediatric Neurology, High Specialty Medical Unit, Instituto Mexicano del Seguro Social, Yucatán. Mexico.
Jazyk:	angličtina
Zdroj:	Gaceta medica de Mexico [Gac Med Mex] 2022; Vol. 158 (5), pp. 265-270.
DOI:	10.24875/GMM.M22000694
Abstrakt:	Introduction: Pompe disease (PD) is a rare form of metabolic myopathy; the classic infantile presentation is severe, with death occurring before reaching one year of life, and the non-classical form is of slower progression and survival can exceed one year. Objective: To describe the genotype and characteristics of Mexican patients with infantile-onset PD. Methods: Seven patients with PD confirmed by enzymatic activity determination and GAA gene molecular analysis were included. Mutations were reviewed in genomic databases. Results: Median age at symptom onset was four months (1-12 months) and age at diagnosis was eight months (4-16 months). All patients had cardiomyopathy: four who died before one year of age had mutations that predicted severe disease (c.2431dup, c.2560C>T, c.655G>A, c.1987delC) and were negative for cross-reactive immunologic material (CRIM). Three patients survived after one year of age with enzyme replacement therapy; one survived almost five years, another 18 months, and one girl was almost three years of age at the time of this report; their pathogenic variants predicted potentially less severe disease (c.1979G>A, c.655G>A, c.1447G>A) and they were positive for CRIM. Conclusion: There was a good correlation between genotype and phenotype in children with Pompe disease. (Copyright: © 2022 Permanyer.)
Databáze:	MEDLINE
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