Abnormalities in gastrointestinal motility are associated with diseases of oxidative phosphorylation in children.
Abnormalities in gastrointestinal motility are associated with diseases of oxidative phosphorylation in children.
复制标题
胃肠动力异常与儿童氧化磷酸化疾病有关。
DOI：
10.1111/j.1572-0241.2003.07385.x
复制
发表时间：
2003
期刊：
影响因子：
--
通讯作者：
Flores,Alejandro
中科院分区：
文献类型：
--
作者：
Chitkara,DeneshK;Nurko,Samuel;Shoffner,JohnM;Buie,Timothy;Flores,Alejandro
目的：线粒体氧化磷酸化电子传递链酶（OXPHOS）的紊乱有神经系统、肌肉骨骼系统、眼科、心脏和胃肠道的表现。许多患有OXPHOS疾病的成人和儿童患者具有肠运动异常。本研究的目的是描述儿童患者谁最初提出的GI动力障碍的迹象，后来进行评估，发现有一个障碍OXPHOS.METHODS：数据收集6例，包括初始GI和神经系统症状，骨骼肌活检组织学，线粒体DNA突变分析，OXPHOS酶测定，上消化道钡成像，锝-99 M液体胃排空扫描，上消化道内镜检查，食管测压，胃窦十二指肠测压。患者后来出现神经系统疾病的症状。所有患者的OXPHOS酶分析均异常。肌肉组织学显示非特异性变化，没有粗糙的红色纤维。线粒体DNA测序显示没有识别的突变。通过上消化道钡剂成像，没有患者有任何肠梗阻或旋转不良的证据。4例患者出现胃排空延迟。3例患者有食管炎的内镜和组织学证据。所有六个有明显的神经病理性异常，胃窦十二指肠测压，包括以下内容：非传播的胃窦爆发，没有迁移运动复合波，餐后胃窦hypomotility，逆行迁移运动复合波，和强直收缩与migrating motor complex.CONCLUSION：abbrevious在GI运动可能是一个早期表现的迹象OXPHOS在儿童的疾病。
OBJECTIVE:Disorders of the mitochondrial electron transport chain enzymes of oxidative phosphorylation (OXPHOS) have neurologic, musculoskeletal, ophthalmologic, cardiac, and GI manifestations. Many adult and pediatric patients with disorders of OXPHOS have abnormalities in intestinal motility. The purpose of this study was to describe pediatric patients who initially presented with signs of GI dysmotility and were later evaluated and found to have a disorder of OXPHOS.METHODS:Data were collected on six patients, including initial GI and neurologic symptoms, histology of skeletal muscle biopsies, mitochondrial DNA mutational analysis, OXPHOS enzyme assay, upper GI barium imaging, technetium-99M liquid gastric emptying scan, upper GI endoscopy, esophageal manometry, and antroduodenal manometry.RESULTS:All six children presented with symptoms of GI dysmotility within 2 wk of life. Patients later developed symptoms of neurologic disorders. All patients had abnormalities in OXPHOS enzyme analysis. Muscle histology showed nonspecific changes with no ragged red fibers. Sequencing of the mitochondrial DNA showed no recognized mutations. No patient had any evidence of intestinal obstruction or malrotation by upper GI barium imaging. Four patients had delayed gastric emptying. Three patients had endoscopic and histologic evidence of esophagitis. All six had demonstrable neuropathic abnormalities by antroduodenal manometry, including the following: nonpropagated antral bursts, absent migrating motor complexes, postprandial antral hypomotility, retrograde migrating motor complexes, and tonic contractions with the migrating motor complex.CONCLUSION:Abnormalities in GI motility may be an early presenting sign of disorders of OXPHOS in children.