8 / 12
Page 30
conferenceseries
.com
Volume 8
Journal of Gastrointestinal & Digestive System
Gastroenterology Congress 2018
August 06-07, 2018
August 06-07, 2018 Osaka, Japan
14
th
Annual Congress on
Gastroenterology & Hepatology
Microvillous inclusion disease: What did we know so far
Badr Al-Saleem
King Fahad Medical City, KSA
M
icrovillous inclusion disease or microvillous atrophy is a rare congenital autosomal recessive disorder of the intestinal
epithelial cells that presents with persistent life-threatening secretory watery diarrhea. MVID manifests either in the first
days of life (early-onset form) or in the first few weeks of life (late-onset form). MVID is associated with consanguinity and
arises mainly in the Middle East. All patients were from consanguineous families (from our study not yet published). The onset
of diarrhea was in early neonatal period in all patients. One patient was weaned off PN. One patient underwent SBTx. Four
patients are PN dependent and four died between (4 months-7 years of age). Different
MYO5B
mutations were detected in 8
families and a homozygous mutation in STX 3 gene was identified in one patient. Muller, et al. 2008 identified homozygous
and compound heterozygous nonsense and missense mutations in
MYO5B
, encoding type-Vb myosin motor protein. Several
studies have added to the understanding of pathophysiology of MVID by showing that
MYO5B
mutations were associated with
disrupted epithelial cell polarity indicating that
MYO5B
gene has a role in the regulation of intracellular protein trafficking.
These findings might have important implications for future treatment options for MVID patients. Moreover, mutations in
a second gene, STX 3, causative for MVID-variant, a milder form had been reported recently in 2 patients. Although long-
term survival has been achieved upon PN therapy, the prognosis is generally poor due to long-term PN related complications.
Small bowel transplantation (SBTx) despite being complicated remains the only hope. However, recently, genome-editing
techniques, including the overexpression of the corrected form of the defective gene, or the use of CRISPR (clustered regularly
interspaced short palindromic repeats)/Cas9 to selectively correct the monogenic disease-causing variant within the stem cell,
make autologous Intestinal Stem Cell (ISC) transplantation a promising future approach.
balsaleem@kfmc.med.saJ Gastrointest Dig Syst 2018, Volume 8
DOI: 10.4172/2161-069X-C4-074