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Congenital nephrogenic diabetes insipidus presenting as osmotic demyelination syndrome in infancy: A case report
RATIONALE: Almost 90% of congenital nephrogenic diabetes insipidus (NDI) cases are caused by mutations in the arginine vasopressin receptor 2 gene, which has X-linked recessive inheritance. Although NDI is commonly diagnosed in early infancy based on its characteristic findings, clinical diagnosis c...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Lippincott Williams & Wilkins
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8772767/ https://www.ncbi.nlm.nih.gov/pubmed/35060513 http://dx.doi.org/10.1097/MD.0000000000028552 |