Microvillus Inclusion Disease

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/microvillus-inclusion-disease

Microvillus inclusion disease is a condition characterized by chronic, watery, life-threatening diarrhea typically beginning in the first hours to days of life. Rarely, the diarrhea starts around age 3 or 4 months. Food intake increases the frequency of diarrhea.

genetic conditions

1. Introduction

Microvillus inclusion disease prevents the absorption of nutrients from food during digestion, resulting in malnutrition and dehydration. Affected infants often have difficulty gaining weight and growing at the expected rate (failure to thrive), developmental delay, liver and kidney problems, and thinning of the bones (osteoporosis). Some affected individuals develop cholestasis, which is a reduced ability to produce and release a digestive fluid called bile. Cholestasis leads to irreversible liver disease (cirrhosis).

In individuals with microvillus inclusion disease, lifelong nutritional support is needed and given through intravenous feedings (parenteral nutrition).

A variant of microvillus inclusion disease with milder diarrhea often does not require full-time parenteral nutrition. Individuals with the variant type frequently live past childhood.

2. Frequency

The prevalence of microvillus inclusion disease is unknown. At least 200 cases have been reported in Europe, although this condition occurs worldwide.

3. Causes

Mutations in the MYO5B gene cause microvillus inclusion disease. The MYO5B gene provides instructions for making a protein called myosin Vb. This protein helps to determine the position of various components within cells (cell polarity). Myosin Vb also plays a role in moving components from the cell membrane to the interior of the cell for recycling.

MYO5B gene mutations that cause microvillus inclusion disease result in a decrease or absence of myosin Vb function. In cells that line the small intestine (enterocytes), a lack of myosin Vb function changes the cell polarity. As a result, enterocytes cannot properly form structures called microvilli, which normally project like small fingers from the surface of the cells and absorb nutrients and fluids from food as it passes through the intestine. Inside affected enterocytes, small clumps of abnormal microvilli mix with misplaced digestive proteins to form microvillus inclusions, which contribute to the dysfunction of enterocytes. Disorganized enterocytes with poorly formed microvilli reduce the intestine's ability to take in nutrients. The inability to absorb nutrients and fluids during digestion leads to recurrent diarrhea, malnutrition, and dehydration in individuals with microvillus inclusion disease.

Some people with the signs and symptoms of microvillus inclusion disease do not have mutations in the MYO5B gene. These cases may be variants of microvillus inclusion disease. Studies suggest that mutations in other genes can cause these cases, but the causes are usually unknown.

4. Inheritance

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

5. Other Names for This Condition

congenital enteropathy
congenital familial protracted diarrhea with enterocyte brush-border abnormalities
congenital microvillous atrophy
Davidson disease
familial protracted enteropathy
intractable diarrhea of infancy
microvillous atrophy
microvillous inclusion disease
microvillus atrophy with diarrhea 2
MVID

References

Al-Daraji WI, Zelger B, Zelger B, Hussein MR. Microvillous inclusion disease: a clinicopathologic study of 17 cases from the UK. Ultrastruct Pathol. 2010Dec;34(6):327-32. doi: 10.3109/01913123.2010.500447.
Girard M, Lacaille F, Verkarre V, Mategot R, Feldmann G, Grodet A, Sauvat F,Irtan S, Davit-Spraul A, Jacquemin E, Ruemmele F, Rainteau D, Goulet O, Colomb V,Chardot C, Henrion-Caude A, Debray D. MYO5B and bile salt export pump contribute to cholestatic liver disorder in microvillous inclusion disease. Hepatology. 2014Jul;60(1):301-10. doi: 10.1002/hep.26974.
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 asevere congenital enterocyte disorder. J Pediatr Gastroenterol Nutr. 2011Apr;52(4):460-5. doi: 10.1097/MPG.0b013e3181fb4559.
Khubchandani SR, Vohra P, Chitale AR, Sidana P. Microvillous inclusiondisease--an ultrastructural diagnosis: with a review of the literature.Ultrastruct Pathol. 2011 Apr;35(2):87-91. doi: 10.3109/01913123.2010.537438.Review.
Knowles BC, Roland JT, Krishnan M, Tyska MJ, Lapierre LA, Dickman PS,Goldenring JR, Shub MD. Myosin Vb uncoupling from RAB8A and RAB11A elicitsmicrovillus inclusion disease. J Clin Invest. 2014 Jul;124(7):2947-62. doi:10.1172/JCI71651.
Müller T, Hess MW, Schiefermeier N, Pfaller K, Ebner HL, Heinz-Erian P,Ponstingl H, Partsch J, Röllinghoff B, Köhler H, Berger T, Lenhartz H, SchlenckB, Houwen RJ, Taylor CJ, Zoller H, Lechner S, Goulet O, Utermann G, Ruemmele FM, Huber LA, Janecke AR. MYO5B mutations cause microvillus inclusion disease anddisrupt epithelial cell polarity. Nat Genet. 2008 Oct;40(10):1163-5. doi:10.1038/ng.225.
Ruemmele FM, Müller T, Schiefermeier N, Ebner HL, Lechner S, Pfaller K, Thöni CE, Goulet O, Lacaille F, Schmitz J, Colomb V, Sauvat F, Revillon Y, Canioni D,Brousse N, de Saint-Basile G, Lefebvre J, Heinz-Erian P, Enninger A, Utermann G, Hess MW, Janecke AR, Huber LA. Loss-of-function of MYO5B is the main cause ofmicrovillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell model.Hum Mutat. 2010 May;31(5):544-51. doi: 10.1002/humu.21224.
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 inclusiondisease: loss of Myosin vb disrupts intracellular traffic and cell polarity.Traffic. 2014 Jan;15(1):22-42. doi: 10.1111/tra.12131.
Wiegerinck CL, Janecke AR, Schneeberger K, Vogel GF, van Haaften-Visser DY,Escher JC, Adam R, Thöni CE, Pfaller K, Jordan AJ, Weis CA, Nijman IJ, Monroe GR,van Hasselt PM, Cutz E, Klumperman J, Clevers H, Nieuwenhuis EE, Houwen RH, vanHaaften G, Hess MW, Huber LA, Stapelbroek JM, Müller T, Middendorp S. Loss ofsyntaxin 3 causes variant microvillus inclusion disease. Gastroenterology. 2014Jul;147(1):65-68.e10. doi: 10.1053/j.gastro.2014.04.002.

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Subjects: Genetics & Heredity

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Rita Xu

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Entry Collection: MedlinePlus

Update Date: 23 Dec 2020

Table of Contents

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1. Introduction

2. Frequency

3. Causes

4. Inheritance

5. Other Names for This Condition

References

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1. Introduction

2. Frequency

3. Causes

3.1. The Gene Associated with Microvillus Inclusion Disease

3.1.1. Additional Information from NCBI Gene

4. Inheritance

5. Other Names for This Condition

References