“…All MVID patients required TPN, hence without correlation to gestational age at birth or birth weight percentile. The few reported patients that could be weaned off the TPN were all born at term [9,10]. Preterm birth in MVID thus may have influenced the extent of diarrhea and limited the chance to be weaned off TPN.…”
Section: Diarrhea and Tpn Dependencymentioning
confidence: 99%
“…With more case reports being published, it has become clear that the clinical presentation and course of MVID can be heterogeneous. Some patients could even be weaned off TPN [9][10][11]. Because MVID is a difficult to manage disease [12], more information is needed about factors that influence MVID morbidity and mortality.…”
Microvillus inclusion disease (MVID) is a rare enteropathy caused by mutations in the MYO5B or STX3 gene. MVID is a disease that is difficult to manage with clinical heterogeneity. Therefore, knowledge about factors influencing MVID morbidity and mortality is urgently needed. Triggered by a recent study that reported a high percentage of preterm births in twelve cases of MVID, we have conducted a comprehensive retrospective study involving 88 cases of MVID with reported gestational ages. We found that moderate to late preterm birth occurred in more than half of all cases, and this was particularly prominent in MYO5B-associated MVID. Preterm birth in MVID counterintuitively correlated with higher birth weight percentiles, and correlated with higher stool outputs and a significantly shorter average survival time. Data from this study thus demonstrate an increased risk of preterm birth in MYO5B-associated MVID, with a clinical impact on morbidity and mortality. Adverse effects associated with preterm birth should be taken into account in the care of children diagnosed with MVID. Documentation of gestational age may contribute to a better prognostic risk assessment in MVID.
“…All MVID patients required TPN, hence without correlation to gestational age at birth or birth weight percentile. The few reported patients that could be weaned off the TPN were all born at term [9,10]. Preterm birth in MVID thus may have influenced the extent of diarrhea and limited the chance to be weaned off TPN.…”
Section: Diarrhea and Tpn Dependencymentioning
confidence: 99%
“…With more case reports being published, it has become clear that the clinical presentation and course of MVID can be heterogeneous. Some patients could even be weaned off TPN [9][10][11]. Because MVID is a difficult to manage disease [12], more information is needed about factors that influence MVID morbidity and mortality.…”
Microvillus inclusion disease (MVID) is a rare enteropathy caused by mutations in the MYO5B or STX3 gene. MVID is a disease that is difficult to manage with clinical heterogeneity. Therefore, knowledge about factors influencing MVID morbidity and mortality is urgently needed. Triggered by a recent study that reported a high percentage of preterm births in twelve cases of MVID, we have conducted a comprehensive retrospective study involving 88 cases of MVID with reported gestational ages. We found that moderate to late preterm birth occurred in more than half of all cases, and this was particularly prominent in MYO5B-associated MVID. Preterm birth in MVID counterintuitively correlated with higher birth weight percentiles, and correlated with higher stool outputs and a significantly shorter average survival time. Data from this study thus demonstrate an increased risk of preterm birth in MYO5B-associated MVID, with a clinical impact on morbidity and mortality. Adverse effects associated with preterm birth should be taken into account in the care of children diagnosed with MVID. Documentation of gestational age may contribute to a better prognostic risk assessment in MVID.
“…Variable extra-intestinal symptoms include intrahepatic cholestasis and renal Fanconi syndrome ( van der Velde et al, 2013 ) (see MVID case study in Box 2 ). Some individuals with MVID present less-severe digestive symptoms for reasons that are not clear ( Perry et al, 2014 ). Box 2.…”
Section: Defects In Intracellular Protein Transportmentioning
Congenital diarrheal disorders are rare, often fatal, diseases that are difficult to diagnose (often requiring biopsies) and that manifest in the first few weeks of life as chronic diarrhea and the malabsorption of nutrients. The etiology of congenital diarrheal disorders is diverse, but several are associated with defects in the predominant intestinal epithelial cell type, enterocytes. These particular congenital diarrheal disorders (CDDENT) include microvillus inclusion disease and congenital tufting enteropathy, and can feature in other diseases, such as hemophagocytic lymphohistiocytosis type 5 and trichohepatoenteric syndrome. Treatment options for most of these disorders are limited and an improved understanding of their molecular bases could help to drive the development of better therapies. Recently, mutations in genes that are involved in normal intestinal epithelial physiology have been associated with different CDDENT. Here, we review recent progress in understanding the cellular mechanisms of CDDENT. We highlight the potential of animal models and patient-specific stem-cell-based organoid cultures, as well as patient registries, to integrate basic and clinical research, with the aim of clarifying the pathogenesis of CDDENT and expediting the discovery of novel therapeutic strategies.
“…Similarly, the diagnosis of MVID is based on histology that evidences microvillus inclusion in up to 10% of intestinal villi of affected patients. The analysis is sometimes challenging [14,24], and the alterations may be absent in atypical forms of MVID [25]. CTE is due to villous atrophy with crypt hyperplasia and focal crowding of surface enterocytes that resemble tufts, evidenced by histology of intestinal samples, total or partial villus atrophy, and crypt hyperplasia in the absence of inflammation, with the typical focal epithelial tufts that permit the differential diagnosis between MVID and CTE [15].…”
Congenital diarrheal disorders (CDDs) are early-onset enteropathies generally inherited as autosomal recessive traits. Most patients with CDDs require rapid diagnosis as they need immediate and specific therapy to avoid a poor prognosis, but their clinical picture is often overlapping with a myriad of nongenetic diarrheal diseases. We developed a next-generation sequencing (NGS) panel for the analysis of 92 CDD-related genes, by which we analyzed patients suspect for CDD, among which were (i) three patients with sucrose-isomaltase deficiency; (ii) four patients with microvillous inclusion disease; (iii) five patients with congenital tufting enteropathy; (iv) eight patients with glucose-galactose malabsorption; (v) five patients with congenital chloride diarrhea. In all cases, we identified the mutations in the disease-gene, among which were several novel mutations for which we defined pathogenicity using a combination of bioinformatic tools. Although CDDs are rare, all together, they have an incidence of about 1%. Considering that the clinical picture of these disorders is often confusing, a CDD-related multigene NGS panel contributes to unequivocal and rapid diagnosis, which also reduces the need for invasive procedures.
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