کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
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3294763 | 1209846 | 2009 | 9 صفحه PDF | دانلود رایگان |
![عکس صفحه اول مقاله: Frequency of Mitochondrial Defects in Patients With Chronic Intestinal Pseudo-Obstruction Frequency of Mitochondrial Defects in Patients With Chronic Intestinal Pseudo-Obstruction](/preview/png/3294763.png)
Background & AimsChronic 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. This study evaluates mitochondrial function in patients with CIPO.MethodsA retrospective study was performed of data collected from 80 CIPO patients at a tertiary centre over a 25-year period. Mitochondrial disorders were detected by analysis of serum lactate and thymidine phosphorylase activities, brain magnetic resonance images, and muscle biopsies. Genes encoding thymidine phosphorylase, mitochondrial DNA tRNAleu(UUR) or tRNAlys, and DNA polymerase-γ were analyzed for mutations.ResultsMitochondrial defects were identified in 15 patients (10 women; median age at diagnosis 32 years), representing 19% of the study cohort. All 15 patients had extra-digestive symptoms, 5 had mutations in the thymidine phosphorylase gene, 2 had mutations in tRNAleu(UUR), and 5 had mutations in the DNA polymerase-γ gene. No genetic defect was detected in 3 of the patients with mitochondrial disorders. Patients with mitochondrial CIPO differed 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).ConclusionMitochondrial disorders seem to be an important cause of CIPO. Patients with CIPO, especially severe cases with associated neurologic symptoms, should be tested for mitochondrial defects.
Journal: Gastroenterology - Volume 137, Issue 1, July 2009, Pages 101–109