Glycogen storage disease type VI can progress to cirrhosis: ten Chinese patients with GSD VI and a literature review.

Lu, Shi-Qi; Feng, Jia-Yan; Liu, Jie; Xie, Xin-Bao; Lu, Yi; Abuduxikuer, Kuerbanjiang

Lu, Shi-Qi; Feng, Jia-Yan; Liu, Jie; Xie, Xin-Bao; Lu, Yi; Abuduxikuer, Kuerbanjiang.

Afiliación

Lu SQ; The Center for Liver Diseases, Children's Hospital of Fudan University, Shanghai 201102, China.
Feng JY; The Department of Pathology, Children's Hospital of Fudan University, Shanghai, China.
Liu J; The Department of Pediatrics, Jinshan Hospital of Fudan University, Shanghai, China.
Xie XB; The Center for Liver Diseases, Children's Hospital of Fudan University, Shanghai 201102, China.
Lu Y; The Center for Liver Diseases, Children's Hospital of Fudan University, Shanghai 201102, China.
Abuduxikuer K; The Center for Liver Diseases, Children's Hospital of Fudan University, Shanghai 201102, China.

J Pediatr Endocrinol Metab ; 33(10): 1321-1333, 2020 Sep 07.

Article en En | MEDLINE | ID: mdl-32892177

RESUMEN

Objectives The aim of our study is to systematically describe the genotypic and phenotypic spectrum of Glycogen storage disease type VI (GSD VI), especially in Chinses population. Methods We retrospectively analyzed ten Chinese children diagnosed as having GSD VI confirmed by next generation sequencing in Children's Hospital of Fudan University and Jinshan Hospital of Fudan University. We described the genotypic and phenotypic spectrum of GSD VI through the clinical and genetic data we collected. Moreover, we conducted a literature review, and we compared the genotypic and phenotypic spectrum of GSD VI between Chinese population and non Chinese population. Results For the first time, we found that four Chinese patients showed cirrhosis in liver biopsy characterized by the formation of regenerative nodules. In addition, c.772+1G>A and c.1900G>C, p.(Asp634His) were recurrent in three Chinese families and four European families respectively indicating that the genotypic spectrum of PYGL gene may vary among the population. Furthermore, we identified seven novel variants in PYGL gene. Conclusions Our study enriched the genotypic and phenotypic spectrum of GSD VI, and provided a new clue for management of GSD VI.

Asunto(s)

Pueblo Asiatico/genética; Glucógeno Fosforilasa de Forma Hepática/genética; Enfermedad del Almacenamiento de Glucógeno Tipo VI/complicaciones; Cirrosis Hepática/patología; Mutación; Biomarcadores/análisis; Estudios de Casos y Controles; Niño; Preescolar; Femenino; Estudios de Seguimiento; Genotipo; Secuenciación de Nucleótidos de Alto Rendimiento; Humanos; Lactante; Cirrosis Hepática/etiología; Cirrosis Hepática/metabolismo; Masculino; Pronóstico; Estudios Retrospectivos

Palabras clave

PYGL gene; Chinese; cirrhosis; glycogen storage disease types VI; hepatic glycogen phosphorylase

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad del Almacenamiento de Glucógeno Tipo VI / Glucógeno Fosforilasa de Forma Hepática / Pueblo Asiatico / Cirrosis Hepática / Mutación Tipo de estudio: Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Systematic_reviews Límite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: J Pediatr Endocrinol Metab Asunto de la revista: ENDOCRINOLOGIA / PEDIATRIA Año: 2020 Tipo del documento: Article País de afiliación: China Pais de publicación: Alemania

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