Abstract
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.
Highlights
From the start of their lives, patients with Microvillus inclusion disease (MVID) suffer from unstoppable secretory diarrhea at complete bowel rest
While no clinical trials for MVID have been reported in the literature or databases, several pharmacological treatments have been tried with individual patients with MVID and reported in published case reports
Sometimes promising but overall unsatisfying treatment response with regard to reducing stool volume has been observed in patients with MVID treated with
Summary
Microvillus inclusion disease (MVID; OMIM #251850) is an autosomal recessive congenital diarrheal disorder [1,2]. From the start of their lives, patients with MVID suffer from unstoppable secretory diarrhea at complete bowel rest (that is, in the absence of enteral feeding). Oral or enteral feeding is not possible and causes massive osmotic diarrhea, resulting in patients’ failure to thrive [1,2]. In order to provide a detailed description of the clinical presentations of MVID, we searched EMBASE and MEDLINE databases using the following search strings: ((microvill* inclusion disease) OR (microvill* atrophy)) AND case report) to collect all published. Seventy valid case reports reporting on 98 patients with MVID were retrieved (Table S1). Information on patient gender, gestation, bodyweight at birth, presence or absence of polyhydramnios, day of onset, stool output, fecal analyses, and age at death, among others, were extracted and analyzed (Tables 1 and 2)
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