Niaudet P, Rötig A
Départment de Pédiatrie, Unité de Recherches sur les Handicaps Génétiques de l'Enfant INSERM U 393, Hôpital Necker-Enfants Malades, Paris, France.
Pediatr Nephrol. 1996 Jun;10(3):368-73. doi: 10.1007/BF00866789.
Mitochondrial cytopathies have long been regarded as neuromuscular diseases. However, an oxidative phosphorylation disorder may give rise to various symptoms in other organs or tissues which are dependent upon mitochondrial energy supply. A broad spectrum of clinical symptoms have been described in these patients, including renal symptoms. The most frequent is proximal tubular dysfunction with a more or less complete de Toni-Debré-Fanconi syndrome. A few patients have been reported with tubular acidosis, Bartter syndrome, chronic tubulointerstitial nephritis, or nephrotic syndrome. The diagnosis of a respiratory chain deficiency is difficult when only renal symptoms are present but should be easier when another seemingly unrelated symptom is observed. Metabolic screening for abnormal oxidoreduction status in plasma, including lactate/pyruvate and ketone body molar ratios, can help to identify patients for further investigations. These include the measurement of oxygen consumption by mitochondria, the assessment of mitochondrial respiratory enzyme activities by spectrophotometric studies, and, when possible, the molecular analysis of mitochondrial DNA. Any mode of inheritance can be observed: sporadic, autosomal dominant or recessive, or maternal inheritance. No satisfactory therapy is presently available for mitochondrial disorders.
线粒体细胞病长期以来一直被视为神经肌肉疾病。然而，氧化磷酸化障碍可能在其他依赖线粒体能量供应的器官或组织中引发各种症状。这些患者出现了广泛的临床症状，包括肾脏症状。最常见的是近端肾小管功能障碍，或多或少伴有完全性的德托尼 - 德布雷 - 范科尼综合征。少数患者被报道患有肾小管酸中毒、巴特综合征、慢性肾小管间质性肾炎或肾病综合征。当仅出现肾脏症状时，呼吸链缺陷的诊断较为困难，但当观察到另一个看似无关的症状时，诊断应该会更容易。对血浆中异常氧化还原状态进行代谢筛查，包括乳酸/丙酮酸和酮体摩尔比，有助于识别患者以便进一步检查。这些检查包括测量线粒体的氧消耗量、通过分光光度研究评估线粒体呼吸酶活性，以及在可能的情况下对线粒体DNA进行分子分析。可以观察到任何遗传方式：散发性、常染色体显性或隐性遗传，或母系遗传。目前对于线粒体疾病尚无令人满意的治疗方法。
