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Microvillus inclusion disease

This is a rare, autosomal recessive cause of congenital diarrheal.

Types:

  • Early onset (95%): since birth
  • Late onset (5%): 1-3 months

Pathophysiology:

 

Dhekne HS, Pylypenko O, Overeem AW, Ferreira RJ, van der Velde KJ, Rings EHHM, Posovszky C, Swertz M, Houdusse A, van IJzendoorn SCD. MYO5B, STX3 and STXBP2 mutations reveal a common disease mechanism that unifies a subset of congenital diarrheal disorders: A mutation update. Hum Mutat. 2017 Dec 21. doi: 10.1002/humu.23386. [Epub ahead of print] PubMed PMID: 29266534.
 
Thoeni CE, Vogel GF, Tancevski I, Geley S, Lechner S, Pfaller K, Hess MW, Müller T, Janecke AR, Avitzur Y, Muise A, Cutz E, Huber LA. Microvillus inclusion disease: loss of Myosin vb disrupts intracellular traffic and cell polarity. Traffic. 2014 Jan;15(1):22-42. doi: 10.1111/tra.12131. Epub 2013 Nov 19. PubMed PMID: 24138727.

 

 

 

 

Management:

  • Unusual parenteral hydration & electrolyte (sodium, potasium, chloride, acetate) needs due to high stool losses.
  • Progressive cholestasis often worse than other PN dependent conditions.  Case reports suggestive that it is responsive to intavenous omega-3 therapy.
  • Monitor urine electrolytes frequently.
  • Often require intravenous iron due poor enteral absorption.
  • Anecdotally, diarrhea may improve with antibiotic treatment for altered microbiota.
  • Extra-intestinal manifestations of MVID:
    • Gallbladder
    • Lung
    • Pancreas (insulin resistance)
    • Learning difficuties, autism
    • Renal (Fanconi's, hematuria)

 

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Golachowska MR, van Dael CM, Keuning H, Karrenbeld A, Hoekstra D, Gijsbers CF, Benninga MA, Rings EH, van Ijzendoorn SC. MYO5B mutations in patients with microvillus inclusion disease presenting with transient renal Fanconi syndrome. J Pediatr Gastroenterol Nutr. 2012 Apr;54(4):491-8. doi: 10.1097/MPG.0b013e318235377 PubMed PMID: 22441677.
 

Gonzales E, Taylor SA, Davit-Spraul A, Thébaut A, Thomassin N, Guettier C, Whitington PF, Jacquemin E. MYO5B mutations cause cholestasis with normal serum gamma-glutamyl transferase activity in children without microvillous inclusion disease. Hepatology. 2017 Jan;65(1):164-173. doi: 10.1002/hep.28779. Epub 2016 Oct 5. PubMed PMID: 27532546.

 

Fuchs J, Fallon EM, Gura KM, Puder M. Use of an omega-3 fatty acid-based emulsion in the treatment of parenteral nutrition-induced cholestasis in patients with microvillous inclusion disease. J Pediatr Surg. 2011 Dec;46(12):2376-82. doi: 10.1016/j.jpedsurg.2011.09.061. Review. PubMed PMID: 22152886.

 

Halac U, Lacaille F, Joly F, Hugot JP, Talbotec C, Colomb V, Ruemmele FM, Goulet O. Microvillous inclusion disease: how to improve the prognosis of a severe congenital enterocyte disorder. J Pediatr Gastroenterol Nutr. 2011 Apr;52(4):460-5. doi: 10.1097/MPG.0b013e3181fb4559. PubMed PMID: 21407114.