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adult CIPO

Monday 27 June 2011

Chronic intestinal pseudo-obstruction (CIPO) is a rare disorder caused by intestinal dysmotility and characterized by chronic symptoms suggesting bowel obstruction in the absence of fixed, occluding lesions.

CIPO has been associated with primary defects of the mitochondrial oxidative phosphorylation pathway, although the frequency of mitochondrial disorders in patients with CIPO is unknown.

Studying adult CIPOs, Amiot et al. investigated serum lactate, blood thymidine phosphorylase, brain magnetic resonance imaging and skeletal muscle biopsies. They identified the disease causing gene in 19% of patients [TYMP, POLG or mitochondrial tRNALeu(UUR) genes].

Mitochondrial defects were identified in 19% of patients in one cohort. All patients had extra-digestive symptoms. (19344718)

- 5/80 had mutations in the thymidine phosphorylase gene TYMP.
- 2/80 had mutations in tRNA(leu(UUR)).
- 5/80 had mutations in the DNA polymerase-gamma gene POLG.
- No genetic defect was detected in 3 of the 15/80 patients with mitochondrial disorders.

The authors concluded that mitochondrial defect is a frequent cause of syndromic adult CIPOs.

Absence of respiratory chain enzyme deficiency, of brain imaging of mitochondrial dysfunction and mutation of TYMP, POLG or tRNALeu(UUR)
genes in series of pediatric CIPO in children allows to conclude that, at variance with adult patients, oxidative phosphorylation deficiency is not a common cause of childhood CIPO.

Patients with mitochondrial CIPO differ from patients without mitochondrial defects in their very severe nutritional status (frequent and long-term requirement for parenteral nutrition) and poor prognosis (frequent digestive and neurologic complications that led to a high incidence of premature death). (19344718)

Mitochondrial disorders seem to be an important cause of adult CIPO.

Patients with adult CIPO, especially severe cases with associated neurologic symptoms, should be tested for mitochondrial defects.

See also

- pediatric CIPO (pediatric chronic intestinal pseudo-obstruction)

References

- Frequency of mitochondrial defects in patients with chronic intestinal pseudo-obstruction. Amiot A, Tchikviladz√© M, Joly F, Slama A, Hatem DC, Jardel C, Messing B, Lomb√®s A. Gastroenterology. 2009 Jul;137(1):101-9. PMID: 19344718