A Case of Protracted Diarrhea in a Newborn: A Diagnostic Challenge

Mendes, Catarina; Figueiredo, Carla; Mansilha, Helena Ferreira; Proença, Elisa; Oliveira, Dulce; Lima, Rosa; Carvalho, Cármen

doi:10.4081/pr.2014.5596

Cited by 2 publications

(2 citation statements)

References 13 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Beck et al [ 30 ] and Raafat et al [ 33 ] found no effect of octreotide on stool volume in two patients with MVID per study. Three other studies mentioned octreotide been tried with one patient with MVID per study and reported no beneficial effects [ 41 , 42 , 43 ]. Unfortunately, in these latter studies the study protocol and outcome measures were not specified.…”

Section: Pharmacological Interventions In Mvidmentioning

confidence: 99%

Pharmacological and Parenteral Nutrition-Based Interventions in Microvillus Inclusion Disease

Leng

Rings

IJzendoorn

2020

JCM

View full text Add to dashboard Cite

Microvillus inclusion disease (MVID) is a rare inherited and invariably fatal enteropathy, characterized by severe intractable secretory diarrhea and nutrient malabsorption. No cure exists, and patients typically die during infancy because of treatment-related complications. The need for alternative treatment strategies is evident. Several pharmacological interventions with variable successes have been tried and reported for individual patients as part of their clinical care. Unfortunately, these interventions and their outcomes have remained hidden in case reports and have not been reviewed. Further, recent advances regarding MVID pathogenesis have shed new light on the outcomes of these pharmacological interventions and offer suggestions for future clinical research and trials. Hence, an inventory of reported pharmacological interventions in MVID, their rationales and outcomes, and a discussion of these in the light of current knowledge is opportune. Together with a discussion on MVID-specific pharmacokinetic, -dynamic, and -genetic concerns that pose unique challenges regarding pharmacological strategies, we envision that this paper will aid researchers and clinicians in their efforts to develop pharmacological interventions to combat this devastating disease.

show abstract

Section: Pharmacological Interventions In Mvidmentioning

confidence: 99%

Pharmacological and Parenteral Nutrition-Based Interventions in Microvillus Inclusion Disease

Leng

Rings

IJzendoorn

2020

JCM

View full text Add to dashboard Cite

show abstract

“…When the degradation machinery is exhausted over time, inclusions start to accumulate and are therefore predominantly found in mature IECs at the tips of the villi. Because microvillus inclusions are not reliably present upon pathological examination of IECs from MVID patients ( Mendes et al, 2014 ), additional genetic testing, such as of MYO5B , STX3 and STXBP2 , should be performed to confirm a MVID diagnosis. When these genes are not affected, a panel of genes involved in other CDDs ( Canani et al, 2015 ; Overeem et al, 2016 ) or genome-wide sequencing should be considered.…”

Section: Disrupted Intestinal Epithelial Cell Polarity In Mvidmentioning

confidence: 99%

Intestinal epithelial cell polarity defects in disease: lessons from microvillus inclusion disease

Schneeberger

Roth

Nieuwenhuis

et al. 2018

Disease Models &Amp; Mechanisms

View full text Add to dashboard Cite

The intestinal epithelium is a highly organized tissue. The establishment of epithelial cell polarity, with distinct apical and basolateral plasma membrane domains, is pivotal for both barrier formation and for the uptake and vectorial transport of nutrients. The establishment of cell polarity requires a specialized subcellular machinery to transport and recycle proteins to their appropriate location. In order to understand and treat polarity-associated diseases, it is necessary to understand epithelial cell-specific trafficking mechanisms. In this Review, we focus on cell polarity in the adult mammalian intestine. We discuss how intestinal epithelial polarity is established and maintained, and how disturbances in the trafficking machinery can lead to a polarity-associated disorder, microvillus inclusion disease (MVID). Furthermore, we discuss the recent developments in studying MVID, including the creation of genetically manipulated cell lines, mouse models and intestinal organoids, and their uses in basic and applied research.

show abstract

A Case of Protracted Diarrhea in a Newborn: A Diagnostic Challenge

Cited by 2 publications

References 13 publications

Pharmacological and Parenteral Nutrition-Based Interventions in Microvillus Inclusion Disease

Pharmacological and Parenteral Nutrition-Based Interventions in Microvillus Inclusion Disease

Intestinal epithelial cell polarity defects in disease: lessons from microvillus inclusion disease

Contact Info

Product

Resources

About