PDF(Pubmed)
Abstract：
UNASSIGNED: COQ8B nephropathy is a relatively rare autosomal recessive kidney disease characterized by proteinuria and a progressive deterioration of renal function, eventually leading to end-stage renal disease (ESRD). The objective is to study the characteristics and correlation between the genotype and the clinical phenotype of COQ8B nephropathy.
UNASSIGNED: This is a retrospective study focusing on the clinical characteristics of seven COQ8B nephropathy patients diagnosed by gene sequencing. Basic clinical information, clinical manifestations, examinations, imaging, genomes, pathology, treatments, and prognosis of the patients were reviewed.
UNASSIGNED: Of the seven patients, two were male children and five were female children. The median age at the disease onset was 5 years and 3 months. The initial main clinical manifestations were proteinuria and renal insufficiency. Four patients had severe proteinuria, four had focal segmental glomerulosclerosis (FSGS) diagnosed by a renal biopsy, and two had nephrocalcinosis after an ultrasound was performed on them. There were no other clinical manifestations such as neuropathy, muscle atrophy, and so on in all of them. Their gene mutations were all exon variants, which were classified as heterozygous or homozygous variants by performing family verification analysis. Compound heterozygous variants were predominant in all, and all gene variants were inherited from their parents. One novel mutation, c.1465c>t, was found in this study. This gene mutation resulted from changes in the amino acid sequence, thus leading to an abnormal protein structure. Two patients with early diagnosis of COQ8B nephropathy presented with no renal insufficiency and were treated with oral coenzyme Q10 (CoQ10), and they maintained normal renal function. For the remaining five who were treated with CoQ10 following renal insufficiency, the deterioration of renal function could not be reversed, and they progressed to ESRD within a short time (median time: 7 months). A follow-up of these patients showed normal renal function with a CoQ10 supplement.
UNASSIGNED: For unexplained proteinuria, renal insufficiency, or steroid-resistant nephrotic syndrome, gene sequencing should be considered, in addition to renal biopsy, as early as possible. Timely diagnosis of COQ8B nephropathy and early supplementation of sufficient CoQ10 can help control the progression of the disease and significantly improve the prognosis.
UNASSIGNED: This is a retrospective study focusing on the clinical characteristics of seven COQ8B nephropathy patients diagnosed by gene sequencing. Basic clinical information, clinical manifestations, examinations, imaging, genomes, pathology, treatments, and prognosis of the patients were reviewed.
UNASSIGNED: Of the seven patients, two were male children and five were female children. The median age at the disease onset was 5 years and 3 months. The initial main clinical manifestations were proteinuria and renal insufficiency. Four patients had severe proteinuria, four had focal segmental glomerulosclerosis (FSGS) diagnosed by a renal biopsy, and two had nephrocalcinosis after an ultrasound was performed on them. There were no other clinical manifestations such as neuropathy, muscle atrophy, and so on in all of them. Their gene mutations were all exon variants, which were classified as heterozygous or homozygous variants by performing family verification analysis. Compound heterozygous variants were predominant in all, and all gene variants were inherited from their parents. One novel mutation, c.1465c>t, was found in this study. This gene mutation resulted from changes in the amino acid sequence, thus leading to an abnormal protein structure. Two patients with early diagnosis of COQ8B nephropathy presented with no renal insufficiency and were treated with oral coenzyme Q10 (CoQ10), and they maintained normal renal function. For the remaining five who were treated with CoQ10 following renal insufficiency, the deterioration of renal function could not be reversed, and they progressed to ESRD within a short time (median time: 7 months). A follow-up of these patients showed normal renal function with a CoQ10 supplement.
UNASSIGNED: For unexplained proteinuria, renal insufficiency, or steroid-resistant nephrotic syndrome, gene sequencing should be considered, in addition to renal biopsy, as early as possible. Timely diagnosis of COQ8B nephropathy and early supplementation of sufficient CoQ10 can help control the progression of the disease and significantly improve the prognosis.
摘要：
未经证实：COQ8B肾病是一种相对罕见的常染色体隐性肾病，以蛋白尿和肾功能进行性恶化为特征，最终导致终末期肾病（ESRD）。目标研讨COQ8B肾病基因型与临床表型的特色及相干性。
UNASSIGNED：这是一项回顾性研究，重点是通过基因测序诊断的7例COQ8B肾病患者的临床特征。基本临床资料,临床表现，考试,成像,基因组，病理学,治疗,并对患者的预后进行了回顾。
未经批准：在这7名患者中，两个是男孩，五个是女孩。发病时的中位年龄为5岁零3个月。最初的主要临床表现为蛋白尿和肾功能不全。四名患者有严重的蛋白尿，其中4人通过肾活检诊断为局灶性节段肾小球硬化（FSGS），两个人在进行超声检查后患有肾钙质沉着症。没有其他临床表现，如神经病，肌肉萎缩,等等。他们的基因突变都是外显子变异,通过进行家族验证分析，将其分类为杂合或纯合变体。复合杂合变体在所有，所有的基因变异都是从他们的父母那里遗传的.一个新的突变,c.1465c>t，在这项研究中发现。这种基因突变是由氨基酸序列的变化引起的，从而导致蛋白质结构异常。两名早期诊断为COQ8B肾病的患者表现为无肾功能不全，并口服辅酶Q10（CoQ10）治疗，维持正常的肾功能.对于其余五名在肾功能不全后接受CoQ10治疗的患者，肾功能的恶化无法逆转，他们在短时间内进展为ESRD（中位时间：7个月）。这些患者的随访显示，补充辅酶Q10后肾功能正常。
未经批准：对于无法解释的蛋白尿，肾功能不全,或类固醇抗性肾病综合征，应该考虑基因测序，除了肾活检,尽可能早。及时诊断COQ8B肾病，早期补充足量的CoQ10有助于控制病情进展，显著改善预后。
UNASSIGNED：这是一项回顾性研究，重点是通过基因测序诊断的7例COQ8B肾病患者的临床特征。
未经批准：在这7名患者中，
未经批准：对于无法解释的蛋白尿，
