PDF(Sci-hub)
Abstract：
Primary coenzyme Q10 (CoQ10) deficiency of genetic origin is one of a few treatable focal segmental glomerulosclerosis (FSGS). Renal morphologic evidence for COQ8B mutation and CoQ10 deficiencies of other gene mutations is assessed using electron microscopy with marked increase of abnormal-shaped mitochondria in podocytes. However, light microscopic morphologic features of deficiencies other than FSGS have not been reported.
A 30-year-old woman was admitted to our hospital because proteinuria was found during four consecutive medical checkups. She had no medical history or family history of proteinuria and severe renal dysfunction. The swollen podocytes were stained to the same extent as mitochondria-rich proximal tubular cells under both Masson\'s trichrome and hematoxylin-eosin staining, whereas no mitochondrial abnormalities were detected under the first electron microscopic views. As proteinuria and estimated glomerular filtration rate (eGFR) deteriorated after pregnancy, we reevaluated the additional electron microscopic views and detected mitochondrial abnormalities. Genetic testing revealed COQ8B mutation (c.532C > T, p.R178W); therefore, we diagnosed COQ8B nephropathy. CoQ10 supplementation improved proteinuria and stopped eGFR reduction.
This is the first report of granular swollen podocytes due to mitochondrial diseases detected under light microscopy. We propose that this finding can be the clue for the diagnosis of both COQ8B nephropathy and the other CoQ10 deficiencies.
A 30-year-old woman was admitted to our hospital because proteinuria was found during four consecutive medical checkups. She had no medical history or family history of proteinuria and severe renal dysfunction. The swollen podocytes were stained to the same extent as mitochondria-rich proximal tubular cells under both Masson\'s trichrome and hematoxylin-eosin staining, whereas no mitochondrial abnormalities were detected under the first electron microscopic views. As proteinuria and estimated glomerular filtration rate (eGFR) deteriorated after pregnancy, we reevaluated the additional electron microscopic views and detected mitochondrial abnormalities. Genetic testing revealed COQ8B mutation (c.532C > T, p.R178W); therefore, we diagnosed COQ8B nephropathy. CoQ10 supplementation improved proteinuria and stopped eGFR reduction.
This is the first report of granular swollen podocytes due to mitochondrial diseases detected under light microscopy. We propose that this finding can be the clue for the diagnosis of both COQ8B nephropathy and the other CoQ10 deficiencies.
摘要：
遗传起源的原发性辅酶Q10（CoQ10）缺乏症是少数可治疗的局灶性节段肾小球硬化（FSGS）之一。使用电子显微镜评估了其他基因突变的COQ8B突变和CoQ10缺乏的肾脏形态学证据，足细胞中异常形态的线粒体明显增加。然而,除FSGS以外的缺陷的光学显微镜形态特征尚未报道.
一名30岁的妇女因连续四次体检发现蛋白尿而入院。她没有蛋白尿和严重肾功能不全的病史或家族史。在Masson三色染色和苏木精-伊红染色下，肿胀的足细胞染色程度与富含线粒体的近端肾小管细胞相同。而在第一次电子显微镜下没有检测到线粒体异常。由于蛋白尿和估计的肾小球滤过率（eGFR）在怀孕后恶化，我们重新评估了额外的电子显微镜视图并检测到线粒体异常.基因检测显示COQ8B突变（c.532C>T，p.R178W)；因此，我们诊断为COQ8B肾病。补充辅酶Q10可改善蛋白尿并停止eGFR降低。
这是在光学显微镜下检测到的由于线粒体疾病引起的颗粒状足细胞肿胀的第一份报告。我们认为这一发现可能是诊断COQ8B肾病和其他CoQ10缺陷的线索。
一名30岁的妇女因连续四次体检发现蛋白尿而入院。她没有蛋白尿和严重肾功能不全的病史或家族史。在Masson三色染色和苏木精-伊红染色下，肿胀的足细胞染色程度与富含线粒体的近端肾小管细胞相同。而在第一次电子显微镜下没有检测到线粒体异常。由于蛋白尿和估计的肾小球滤过率（eGFR）在怀孕后恶化，我们重新评估了额外的电子显微镜视图并检测到线粒体异常.基因检测显示COQ8B突变（c.532C>T，p.R178W)；因此，我们诊断为COQ8B肾病。补充辅酶Q10可改善蛋白尿并停止eGFR降低。
这是在光学显微镜下检测到的由于线粒体疾病引起的颗粒状足细胞肿胀的第一份报告。我们认为这一发现可能是诊断COQ8B肾病和其他CoQ10缺陷的线索。
