Challenges of Microvillus Inclusion Disease in the NICU

Abstract

Mutations in the myosin 5β, syntaxin-binding protein 2, and syntaxin 3 genes lead to microvillus inclusion disease (MVID), an autosomal recessive congenital enteropathy. This rare disease is characterized by lack of microvilli on the surface of enterocytes in the small intestine, the presence of pathognomonic intracellular microvillus inclusions, and vesicular bodies within these enterocytes. This pathology leads to the characteristic intractable, life-threatening, watery diarrhea. In the more common early-onset form, affected patients present in the first few days after birth, whereas in the late-onset form, clinical manifestations appear at approximately 2 to 3 months of age. Genetic testing can confirm the diagnosis, but the infant’s medical history, clinical presentation, and small intestinal biopsy results are strongly suggestive of the diagnosis. The prevalence of MVID is thought to be higher in countries with a high degree of consanguinity. Patients with MVID cannot tolerate feedings and require continuous total parenteral nutrition. Mortality is extremely high in the early-onset type with reports of survival in patients treated with small intestinal transplantation. Medical counseling for parents of infants with MVID needs to reflect our current understanding of the various genetic forms of this disease, the feasible management, and anticipated outcomes.

Risk and Clinical Significance of Idiopathic Preterm Birth in Microvillus Inclusion Disease

“…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: Can Mesenchymal Stem Cells Be a Potential Treatment Option?

“…In this genetically originated disease, replacement of diseased epithelium by gene corrected epithelium with gene editing technique or the use of human leukocyte antigen-matched allogenic ISCs are seen as promising treatments for the future (8). The use of clustered regularly interspaced short palindromic repeats (CRISPR) to correct the monogenic disease, could increase the chances of success of autologous ISC transplantation.…”

Fetal Bowel Abnormalities Suspected by Ultrasonography in Microvillus Inclusion Disease: Prevalence and Clinical Significance

“…MVID clinically presents with unstoppable secretory diarrhea, the inability to sustain enteral feeds, and failure to thrive [ 1 , 2 ]. The first days after birth are the most critical and characterized by unexpected, severe and life-threatening dehydration of a hypernatremic and/or hypovolemic nature, excessive loss of body weight, and severe metabolic disturbances [ 3 ]. The large amount of watery stools, which can be over 300 mL/kg/day at bowel rest, can be mistaken for urine.…”

“…An early diagnosis is therefore crucial. The diagnosis of MVID, however, is challenging, costly, and impeded by various, time-consuming laboratory work-ups, endoscopy, and expert biopsy analyses, and can take several weeks to months [ 3 , 11 ].…”