Imerslund-Gräsbeck syndrome: a comprehensive review of reported cases

Imerslund-Gräsbeck syndrome (IGS) is a rare autosomal recessive disorder characterized by vitamin B12 malabsorption. Most patients present with non-specific symptoms attributed to vitamin B12 deficiency, and proteinuria. Patients may if untreated, develop severe neurocognitive manifestations. If rec...

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Detalles Bibliográficos
Autores principales: Kingma, Sandra D.K., Neven, Julie, Bael, An, Meuwissen, Marije E.C., van den Akker, Machiel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10500774/
https://www.ncbi.nlm.nih.gov/pubmed/37710296
http://dx.doi.org/10.1186/s13023-023-02889-x
Descripción
Sumario:Imerslund-Gräsbeck syndrome (IGS) is a rare autosomal recessive disorder characterized by vitamin B12 malabsorption. Most patients present with non-specific symptoms attributed to vitamin B12 deficiency, and proteinuria. Patients may if untreated, develop severe neurocognitive manifestations. If recognized and treated with sufficient doses of vitamin B12, patients recover completely. We provide, for the first time, an overview of all previously reported cases of IGS. In addition, we provide a complete review of IGS and describe two new patients. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13023-023-02889-x.

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