Gastrointestinal manifestations of mitochondrial disorders: a systematic review
#MMPMID28286566
Finsterer J
; Frank M
Therap Adv Gastroenterol
2017[Jan]; 10
(1
): 142-154
PMID28286566
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Mitochondrial disorders (MIDs) due to respiratory-chain defects or nonrespiratory
chain defects are usually multisystem conditions [mitochondrial multiorgan
disorder syndrome (MIMODS)] affecting the central nervous system (CNS),
peripheral nervous system, eyes, ears, endocrine organs, heart, kidneys, bone
marrow, lungs, arteries, and also the intestinal tract. Frequent gastrointestinal
(GI) manifestations of MIDs include poor appetite, gastroesophageal sphincter
dysfunction, constipation, dysphagia, vomiting, gastroparesis, GI
pseudo-obstruction, diarrhea, or pancreatitis and hepatopathy. Rare GI
manifestations of MIDs include dry mouth, paradontosis, tracheoesophageal
fistula, stenosis of the duodeno-jejunal junction, atresia or imperforate anus,
liver cysts, pancreas lipomatosis, pancreatic cysts, congenital stenosis or
obstruction of the GI tract, recurrent bowel perforations with intra-abdominal
abscesses, postprandial abdominal pain, diverticulosis, or pneumatosis coli.
Diagnosing GI involvement in MIDs is not at variance from diagnosing GI disorders
due to other causes. Treatment of mitochondrial GI disease includes noninvasive
or invasive measures. Therapy is usually symptomatic. Only for
myo-neuro-gastro-intestinal encephalopathy is a causal therapy with autologous
stem-cell transplantation available. It is concluded that GI manifestations of
MIDs are more widespread than so far anticipated and that they must be recognized
as early as possible to initiate appropriate diagnostic work-up and avoid any
mitochondrion-toxic treatment.
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