Caggiano Serena, Khirani Sonia, Dabaj Ivana, Cavassa Eliana, Amaddeo Alessandro, Arroyo Jorge Olmo, Desguerre Isabelle, Richard Pascale, Cutrera Renato, Ferreiro Ana, Estournet Brigitte, Quijano-Roy Susana, Fauroux Brigitte
AP-HP, Hôpital Necker-Enfants Malades, Pediatric noninvasive ventilation and sleep unit, Paris, France; Respiratory Unit, Pediatric Department Bambino Gesù Children's Hospital, Rome, Italy.
AP-HP, Hôpital Necker-Enfants Malades, Pediatric noninvasive ventilation and sleep unit, Paris, France; ASV Santé, Gennevilliers, France.
Neuromuscul Disord. 2017 Aug;27(8):747-755. doi: 10.1016/j.nmd.2017.04.010. Epub 2017 Apr 26.
SEPN1-related myopathy (SEPN1-RM) is characterized by predominant axial muscle weakness, early scoliosis, rigid spine and severe respiratory insufficiency. The aim of the study was to characterize the mechanisms of respiratory dysfunction in SEPN1-RM patients. Breathing pattern and respiratory muscle strength were measured by means of esophageal (Pes) and gastric (Pgas) pressures. Seven patients aged 7-55 years (1 adult) at first respiratory muscle test were studied. Five patients were treated by nocturnal noninvasive ventilation (NIV) ≥ 4 months. Mean ΔPes was within normality during tidal breathing, but the ΔPgas/ΔPes index indicated an increased contribution of the rib cage and expiratory muscles, as compared to the diaphragm, in the pediatric patients and bilateral diaphragmatic paralysis in the adult patient. Forced vital capacity (FVC) was reduced in all patients (52 ± 19%pr) with mean FVC seated-supine drop of 24 ± 7%. Global inspiratory muscle and diaphragmatic strengths were moderately reduced in 2 patients, highly reduced in 4 patients and severely reduced in the adult patient. Expiratory muscle strength was moderately reduced in 6 patients and severely reduced in the adult patient. FVC and respiratory muscle strength remained stable in 2 patients treated by nocturnal NIV within a 3-year follow-up. This study confirms that diaphragmatic dysfunction is a characteristic feature of SEPN1-RM and NIV may stabilize the decline in respiratory muscle strength.
与硒蛋白N1相关的肌病（SEPN1-RM）的特征是主要表现为轴性肌无力、早期脊柱侧弯、脊柱僵硬和严重呼吸功能不全。本研究的目的是明确SEPN1-RM患者呼吸功能障碍的机制。通过食管压力（Pes）和胃内压力（Pgas）测量呼吸模式和呼吸肌力量。对7例年龄在7至55岁（1例成人）的患者进行了首次呼吸肌测试。5例患者接受了≥4个月的夜间无创通气（NIV）治疗。潮气呼吸时平均Pes变化在正常范围内，但与膈肌相比，Pgas/Pes指数表明小儿患者的胸廓和呼气肌作用增加，而成人患者存在双侧膈肌麻痹。所有患者的用力肺活量（FVC）均降低（52±19%预计值），平均坐位-仰卧位FVC下降24±7%。2例患者的整体吸气肌和膈肌力量中度降低，4例患者高度降低，成人患者严重降低。6例患者的呼气肌力量中度降低，成人患者严重降低。在3年随访期间，接受夜间NIV治疗的2例患者的FVC和呼吸肌力量保持稳定。本研究证实膈肌功能障碍是SEPN1-RM的一个特征性表现，NIV可能会稳定呼吸肌力量的下降。
