Pérez-Albert Paula, de Lucas Collantes Carmen, Fernández-García Miguel Ángel, de Rojas Teresa, Aparicio López Cristina, Gutiérrez-Solana Luis
Department of Pediatrics, Children's University Hospital Niño Jesús, Madrid, Spain.
Department of Pediatric Nephrology, Children's University Hospital Niño Jesús, Madrid, Spain.
JIMD Rep. 2018;42:61-70. doi: 10.1007/8904_2017_78. Epub 2017 Dec 17.
Mitochondrial diseases (MD) are a heterogeneous group of clinical syndromes characterized by the involvement of different organ systems. They constitute the most prevalent hereditary metabolic disease group.
To review the importance of the kidney in MD from the nephrologist's perspective within the setting of a pediatric tertiary reference center.
Retrospective study of children (<18 years) with MD followed between 2000 and 2016 at a tertiary Spanish center.
52 patients were included. The mean age at the time of the study was 10 years (SD ± 5.1). The mean follow-up time was 6.1 years (SD ± 4.7). The median age at diagnosis was 2.5 years (0.3-13.5).The median number of affected systems was two (range 1-6). The nervous system was the most affected system, with 51 patients (98%) presenting with neurological involvement. 20 patients (40%) presented with endocrinological manifestations, 18 (35%) with vision problems, 16 (30%) with gastrointestinal symptoms, 5 (10%) patients developed hearing impairment, and 6 (10%) cardiac disease.We detected renal involvement in 13 patients (25%). Eight patients had tubular disease, most frequently hypercalciuria with hypouricemia and five patients had glomerular involvement, with proteinuria and/or decreased glomerular filtration rate as the most frequent symptoms. Only 21 patients (~40%) had been seen by a pediatric nephrologist.
Renal disease was a common occurrence in patients with mitochondrial disease, present in our study in 25% of patients. A regular screening of renal function parameters and the involvement of a nephrologist as part of the multidisciplinary approach to mitochondrial disease appears warranted.
线粒体疾病（MD）是一组异质性临床综合征，其特征是不同器官系统受累。它们是最常见的遗传性代谢疾病组。
从儿科三级转诊中心的肾病学家角度，综述肾脏在MD中的重要性。
对2000年至2016年在西班牙一家三级中心随访的MD儿童（<18岁）进行回顾性研究。
纳入52例患者。研究时的平均年龄为10岁（标准差±5.1）。平均随访时间为6.1年（标准差±4.7）。诊断时的中位年龄为2.5岁（0.3 - 13.5）。受累系统的中位数为两个（范围1 - 6）。神经系统是受累最严重的系统，51例患者（约98%）有神经受累表现。20例患者（约40%）有内分泌表现，18例（约35%）有视力问题，16例（约30%）有胃肠道症状，5例（约10%）出现听力障碍，6例（约10%）有心脏病。我们检测到13例患者（25%）有肾脏受累。8例患者有肾小管疾病，最常见的是高钙尿症伴低尿酸血症，5例患者有肾小球受累，最常见的症状是蛋白尿和/或肾小球滤过率降低。只有21例患者（约40%）看过儿科肾病学家。
肾脏疾病在线粒体疾病患者中很常见，在我们的研究中占患者的25%。定期筛查肾功能参数并让肾病学家参与线粒体疾病的多学科治疗似乎是必要的。
