Albuminuria is the hallmark of both primary and secondary proteinuric glomerulopathies,
including focal segmental glomerulosclerosis (FSGS), obesity-related nephropathy, and …

In healthy kidneys, interstitial fibroblasts are responsible for the maintenance of renal
architecture. Progressive interstitial fibrosis is thought to be a common pathway for chronic …

Abstract Coenzyme Q10 (CoQ10) is necessary for mitochondrial electron transport.
Mutations in CoQ10 biosynthetic genes cause primary CoQ10 deficiency (PCoQD) and …

Introduction The clinicopathologic characteristics of nephropathy associated with
mitochondrial disease (MD) remain unknown. We retrospectively analyzed a cohort of …

Background The diagnostic rate of Mendelian disorders in sequencing studies continues to
increase, along with the pace of novel disease gene discovery. However, variant …

Fanconi syndrome is a functional disorder of the proximal tubule, characterized by pan-
aminoaciduria, glucosuria, hypophosphatemia, and metabolic acidosis. With the …

Background Approximately 30% of children with steroid-resistant nephrotic syndrome
(SRNS) have causative monogenic variants. SRNS represents glomerular disease resulting …

原发性辅酶Q10 缺乏综合征是一种罕见的, 由线粒体功能障碍引起的临床和遗传异质性疾病,
为常染色体隐性遗传病, 儿童期发病为主; 主要累及神经系统, 骨骼肌, 肾脏和心脏 …

The aim of this study was to investigate coenzyme Q10 (CoQ10) biosynthesis pathway
defects in inherited retinal dystrophy. Individuals affected by inherited retinal dystrophy (IRD) …

Purpose To report the clinical findings of a Japanese patient presenting with retinitis
pigmentosa (RP) together with optic neuropathy and COQ2 mutations. Observations The …