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

被引：6

作者：

Comegna, Marika ^{[1
,2
]}

Amato, Felice ^{[1
,2
]}

Liguori, Renato ^{[1
,2
]}

Canani, Roberto Berni ^{[1
,3
,4
]}

Spagnuolo, Maria Immacolata ^{[3
]}

Morroni, Manrico ^{[5
]}

Guarino, Alfredo ^{[3
]}

Castaldo, Giuseppe ^{[1
,2
]}

机构：

[1] Univ Napoli Federico II, Dipartimento Med Mol & Biotecnol Med, Naples, Italy

[2] CEINGE Biotecnol Avanzate, Naples, Italy

[3] Univ Napoli Federico II, Sez Pediat, Dipartimento Sci Med Traslaz, Naples, Italy

[4] Univ Napoli Federico II, European Lab Invest Food Induced Dis, Naples, Italy

[5] Univ Politecn Marche, Dipartimento Med Sperimentale & Clin, Sez Neurosci & Biol Cellulare, Ancona, Italy

来源：

CLINICAL CASE REPORTS | 2018年 / 6卷 / 12期

关键词：

chronic diarrhea; congenital diarrheal disorders; defects of enterocyte structure; gene; microvillous inclusion disease; mutations;

D O I：

10.1002/ccr3.1879

中图分类号：

R5 [内科学];

学科分类号：

1002 [临床医学]; 100201 [内科学];

摘要：

Key Clinical Message 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.

引用

页码：2451 / 2456

页数：6

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