PDF(Pubmed)
Abstract：
UNASSIGNED: The clinicopathologic characteristics of nephropathy associated with mitochondrial disease (MD) remain unknown. We retrospectively analyzed a cohort of patients with proteinuria, decreased glomerular filtration rate, or Fanconi syndrome who had a genetic mutation confirmed as the cause of MD, defined as mitochondrial nephropathy.
UNASSIGNED: This nationwide survey included 757 nephrology sections throughout Japan, and consequently, data on 81 cases of mitochondrial nephropathy were collected.
UNASSIGNED: The most common renal manifestation observed during the disease course was proteinuria. Hearing loss was the most common comorbidity; a renal-limited phenotype was observed only in mitochondrial DNA (mtDNA) point mutation and COQ8B mutation cases. We found a median time delay of 6.0 years from onset of renal manifestations to diagnosis. Focal segmental glomerular sclerosis (FSGS) was the most common pathologic diagnosis. We then focused on 63 cases with the m.3243A>G mutation. The rate of cases with diabetes was significantly higher among adult-onset cases than among childhood-onset cases. Pathologic diagnoses were more variable in adult-onset cases, including diabetic nephropathy, nephrosclerosis, tubulointerstitial nephropathy, and minor glomerular abnormalities. During the median observation period of 11.0 years from the first onset of renal manifestations in patients with m.3243A>G, renal replacement therapy (RRT) was initiated in 50.8% of patients. Death occurred in 25.4% of the patients during the median observation period of 12.0 years. The median estimated glomerular filtration rate (eGFR) decline was 5.4 ml/min per 1.73 m2/yr in the cases, especially 8.3 ml/min per 1.73 m2/yr in FSGS cases, with m.3243A>G.
UNASSIGNED: Here, we described the clinicopathologic features and prognosis of mitochondrial nephropathy using large-scale data.
UNASSIGNED: This nationwide survey included 757 nephrology sections throughout Japan, and consequently, data on 81 cases of mitochondrial nephropathy were collected.
UNASSIGNED: The most common renal manifestation observed during the disease course was proteinuria. Hearing loss was the most common comorbidity; a renal-limited phenotype was observed only in mitochondrial DNA (mtDNA) point mutation and COQ8B mutation cases. We found a median time delay of 6.0 years from onset of renal manifestations to diagnosis. Focal segmental glomerular sclerosis (FSGS) was the most common pathologic diagnosis. We then focused on 63 cases with the m.3243A>G mutation. The rate of cases with diabetes was significantly higher among adult-onset cases than among childhood-onset cases. Pathologic diagnoses were more variable in adult-onset cases, including diabetic nephropathy, nephrosclerosis, tubulointerstitial nephropathy, and minor glomerular abnormalities. During the median observation period of 11.0 years from the first onset of renal manifestations in patients with m.3243A>G, renal replacement therapy (RRT) was initiated in 50.8% of patients. Death occurred in 25.4% of the patients during the median observation period of 12.0 years. The median estimated glomerular filtration rate (eGFR) decline was 5.4 ml/min per 1.73 m2/yr in the cases, especially 8.3 ml/min per 1.73 m2/yr in FSGS cases, with m.3243A>G.
UNASSIGNED: Here, we described the clinicopathologic features and prognosis of mitochondrial nephropathy using large-scale data.
摘要：
未经证实：与线粒体疾病（MD）相关的肾病的临床病理特征尚不清楚。我们回顾性分析了一组蛋白尿患者，肾小球滤过率下降，或Fanconi综合征的基因突变被证实是MD的原因，定义为线粒体肾病。
未经评估：这项全国性调查包括日本757个肾脏病科，因此，收集81例线粒体肾病的资料。
未经证实：在病程中观察到的最常见的肾脏表现是蛋白尿。听力损失是最常见的合并症；仅在线粒体DNA（mtDNA）点突变和COQ8B突变病例中观察到肾限制表型。我们发现从肾脏表现到诊断的中位时间延迟为6.0年。局灶性节段性肾小球硬化（FSGS）是最常见的病理诊断。然后，我们关注了63例m.3243A>G突变的病例。成人发病病例的糖尿病发病率明显高于儿童发病病例。在成人发病病例中，病理诊断的变化更大，包括糖尿病肾病,肾硬化,肾小管间质性肾病，和轻微的肾小球异常。在m.3243A>G的患者从首次出现肾脏表现开始的11.0年的中位观察期内，50.8%的患者开始了肾脏替代治疗(RRT).在12.0年的中位观察期内，25.4%的患者死亡。在这些病例中，估计的肾小球滤过率（eGFR）下降的中位数为5.4ml/min/1.73m2/yr，特别是在FSGS病例中每1.73m2/yr8.3ml/min，与m.3243A>G.
未经评估：这里，我们使用大量数据描述了线粒体肾病的临床病理特征和预后.
未经评估：这项全国性调查包括日本757个肾脏病科，因此，收集81例线粒体肾病的资料。
未经证实：在病程中观察到的最常见的肾脏表现是蛋白尿。听力损失是最常见的合并症；仅在线粒体DNA（mtDNA）点突变和COQ8B突变病例中观察到肾限制表型。我们发现从肾脏表现到诊断的中位时间延迟为6.0年。局灶性节段性肾小球硬化（FSGS）是最常见的病理诊断。然后，我们关注了63例m.3243A>G突变的病例。成人发病病例的糖尿病发病率明显高于儿童发病病例。在成人发病病例中，病理诊断的变化更大，包括糖尿病肾病,肾硬化,肾小管间质性肾病，和轻微的肾小球异常。在m.3243A>G的患者从首次出现肾脏表现开始的11.0年的中位观察期内，50.8%的患者开始了肾脏替代治疗(RRT).在12.0年的中位观察期内，25.4%的患者死亡。在这些病例中，估计的肾小球滤过率（eGFR）下降的中位数为5.4ml/min/1.73m2/yr，特别是在FSGS病例中每1.73m2/yr8.3ml/min，与m.3243A>G.
未经评估：这里，我们使用大量数据描述了线粒体肾病的临床病理特征和预后.
