Abstract
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.
Highlights
IntroductionMicrovillus inclusion disease (MVID) is a rare enteropathy [1,2]
Accepted: 30 August 2021Microvillus inclusion disease (MVID) is a rare enteropathy [1,2]
Episodal intestinal symptoms and were diagnosed with progressive familial intrahepatic cholestasis (PFIC)-type 6 [19,20]. None of these PFIC6 patients were born preterm [19,20]. These results indicate that preterm birth in MVID appeared restricted to patients with 4 ofrisk bi-allelic MYO5B mutations, but that not all bi-allelic MYO5B mutations increased the of preterm birth
Summary
Microvillus inclusion disease (MVID) is a rare enteropathy [1,2]. MVID clinically presents with severe congenital intractable secretory diarrhea, malabsorption and failure to thrive [1,2]. MVID is an autosomal recessive disease associated with bi-allelic mutations in the MYO5B gene [3] or bi-allelic mutations in the STX3 gene [4] in ~95% or ~5% of cases, respectively [5,6]. Symptoms of MVID are present in some patients diagnosed with familial hemophagocytic lymphohistiocytosis caused by mutations in the STXBP2 gene [5,7], but because of their distinctive hyper-inflammatory symptoms these patients are not diagnosed with MVID. MVID is uniformly fatal if left untreated. Treatment is only supportive and involves life-long maintenance of nutrition and hydration with total parenteral nutrition (TPN)
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