Two cases of microvillous inclusion disease caused by novel mutations in MYO5B gene

Microvillous inclusion disease (MVID) typically appears with severe chronic diarrhea in the few days after birth and rapidly causes dehydration and metabolic acidosis. In this context, presenting two novel cases, we underline the crucial importance of mutation analysis for the diagnosis of this dise...

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Autores principales: Comegna, Marika, Amato, Felice, Liguori, Renato, Berni Canani, Roberto, Spagnuolo, Maria Immacolata, Morroni, Manrico, Guarino, Alfredo, Castaldo, Giuseppe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6293129/
https://www.ncbi.nlm.nih.gov/pubmed/30564347
http://dx.doi.org/10.1002/ccr3.1879
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author Comegna, Marika
Amato, Felice
Liguori, Renato
Berni Canani, Roberto
Spagnuolo, Maria Immacolata
Morroni, Manrico
Guarino, Alfredo
Castaldo, Giuseppe
author_facet Comegna, Marika
Amato, Felice
Liguori, Renato
Berni Canani, Roberto
Spagnuolo, Maria Immacolata
Morroni, Manrico
Guarino, Alfredo
Castaldo, Giuseppe
author_sort Comegna, Marika
collection PubMed
description Microvillous inclusion disease (MVID) typically appears with severe chronic diarrhea in the few days after birth and rapidly causes dehydration and metabolic acidosis. In this context, presenting two novel cases, we underline the crucial importance of mutation analysis for the diagnosis of this disease that may be easily misdiagnosed.
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spelling pubmed-62931292018-12-18 Two cases of microvillous inclusion disease caused by novel mutations in MYO5B gene Comegna, Marika Amato, Felice Liguori, Renato Berni Canani, Roberto Spagnuolo, Maria Immacolata Morroni, Manrico Guarino, Alfredo Castaldo, Giuseppe Clin Case Rep Case Reports Microvillous inclusion disease (MVID) typically appears with severe chronic diarrhea in the few days after birth and rapidly causes dehydration and metabolic acidosis. In this context, presenting two novel cases, we underline the crucial importance of mutation analysis for the diagnosis of this disease that may be easily misdiagnosed. John Wiley and Sons Inc. 2018-10-30 /pmc/articles/PMC6293129/ /pubmed/30564347 http://dx.doi.org/10.1002/ccr3.1879 Text en © 2018 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Reports
Comegna, Marika
Amato, Felice
Liguori, Renato
Berni Canani, Roberto
Spagnuolo, Maria Immacolata
Morroni, Manrico
Guarino, Alfredo
Castaldo, Giuseppe
Two cases of microvillous inclusion disease caused by novel mutations in MYO5B gene
title Two cases of microvillous inclusion disease caused by novel mutations in MYO5B gene
title_full Two cases of microvillous inclusion disease caused by novel mutations in MYO5B gene
title_fullStr Two cases of microvillous inclusion disease caused by novel mutations in MYO5B gene
title_full_unstemmed Two cases of microvillous inclusion disease caused by novel mutations in MYO5B gene
title_short Two cases of microvillous inclusion disease caused by novel mutations in MYO5B gene
title_sort two cases of microvillous inclusion disease caused by novel mutations in myo5b gene
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6293129/
https://www.ncbi.nlm.nih.gov/pubmed/30564347
http://dx.doi.org/10.1002/ccr3.1879
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