A CD3G homozygous pathogenic variant in a Chinese child with lupus-like disease, autoimmune thyroiditis and immunodeficiency.

Background: The T-cell receptor (TCR)/CD3 complex plays a crucial role in T-cell development and immune regulation. CD3G gene encodes one of the CD3 subunits named CD3γ, and its deficiency can cause autoimmune disorders, immunodeficiency and recurrent infections. To date, only 13 patients with CD3G variants have been reported.

Identification of renal cyst cells of type I Nephronophthisis by single-nucleus RNA sequencing.

Nephronophthisis (NPH) is the most common genetic cause of end-stage renal disease (ESRD) in childhood, and is the major pathogenic gene. Cyst formation at the corticomedullary junction is a pathological feature of NPH, but the mechanism underlying cystogenesis is not well understood. The isolation and identification of cystic cell subpopulation could help to identify their origins and provide vital clues to the mechanisms underlying cystogenesis in NPH.

Reducing GEF-H1 Expression Inhibits Renal Cyst Formation, Inflammation, and Fibrosis via RhoA Signaling in Nephronophthisis.

Nephronophthisis (NPHP) is the most prevalent monogenic disease leading to end-stage renal failure in childhood. RhoA activation is involved in NPHP pathogenesis. This study explored the role of the RhoA activator guanine nucleotide exchange factor (GEF)-H1 in NPHP pathogenesis.

A novel ITGA3 homozygous splice mutation in an ILNEB syndrome child with slow progression.

Background And Aims: ILNEB (interstitial lung disease, nephrotic syndrome, epidermolysis bullosa) syndrome is caused by ITGA3 mutations. Demises usually happened at infancy. This study reports a complete ILNEB syndrome child with slow disease progression.

Overexpression of smad7 inhibits the TGF-β/Smad signaling pathway and EMT in NPHP1-defective MDCK cells.

Background: Nephronophthisis (NPHP) is a kind of ciliopathy. Interstitial fibrosis occurs at the early stage of the disease. TGF-β/Smad is a key signaling pathway in regulating interstitial fibrosis and epithelial-mesenchymal transition (EMT).

An Nphp1 knockout mouse model targeting exon 2-20 demonstrates characteristic phenotypes of human nephronophthisis.

Nephronophthisis (NPH) is the most prevalent monogenetic disorder leading to end-stage renal failure (ESRD) in childhood. Mutations in Nphp1, encoding a cilia-localized protein, account for the majority of NPH cases. Despite its identification many years ago, Nphp1 deletions targeting exon 4 or exon 20 have not reproduced the histological features of human NPH in murine models.

Cyclosporine A relieved proteinuria and hypoproteinemia in DGKE nephropathy.

Background: The DGKE gene encodes the diacylglycerol kinase epsilon (DGKε). Loss-of-function mutations of DGKE caused a group of rare renal diseases, which are called DGKE nephropathy. We report the clinical manifestations and therapeutic effects of a patient diagnosed with DGKE nephropathy.

mutation associated isolated nephropathy in two siblings from a Chinese pedigree.

Backgroud: Coenzyme Q10 (CoQ10) is involved in the biosynthesis of adenosine triphosphate (ATP), and is most abundant in the mitochondrial membrane. The primary CoQ10 deficiency caused by defect is mostly manifested as encephalopathy, encephalopathy with nephropathy, and rarely as an isolated nephrotic syndrome.

Methods: Clinical and pathological data and peripheral blood samples of 2 siblings with steroid-resistant nephrotic syndrome (SRNS) and their family members of a Chinese pedigree were collected.

Clinical and pathological features and varied mutational spectra of pathogenic genes in 55 Chinese patients with nephronophthisis.

Background: Nephronophthisis (NPHP) is the most common genetic cause of end-stage renal disease (ESRD) in children. This study was performed to explore the pathogenic gene mutations and clinical and pathological features of Chinese patients with NPHP.

Methods: Patients for whom causative mutations were not identified in our previous study, as well as those recruited later, were subjected to whole-exome next-generation sequencing (NGS) or the exome of 63 primary cilia disease genes.

A new therapy in Epstein-Barr virus-associated lymphoproliferative disease: a case report and a revision of the literature.

Background: Systemic chronic active Epstein-Barr virus infection is an extremely rare childhood disease. Since chronic active Epstein-Barr virus infection can trigger the onset of Epstein-Barr virus-associated lymphoproliferative disease. The clinical manifestations of the disease vary according to the site of involvement; therefore, management may be challenging.

Two Chinese nephronophthisis pedigrees harbored a compound heterozygous deletion with a point mutation in .

is the most prevalent genetic factor in the development of juvenile nephronophthisis (NPHP). In our previous study, homozygous point mutations were detected by Sanger sequencing in three cases from two nonconsanguineous pedigrees. However, mutant sites were detected in only one parent from each respective pedigree.

[Clinical and pathological features and the misdiagnosis of childhood Alport syndrome: a retrospective analysis of 91 cases].

Objective: To explore the clinical and pathological features and the diagnosis of childhood Alport syndrome (AS).

Methods: A retrospective analysis was performed on clinical data of 91 children with AS.

Results: Hematuria was observed in all 91 patients, of whom 86 were accompanied with proteinuria.

WT1 mutation-associated nephropathy: a single-center experience .

This study explored Wilms' tumor 1 () mutations in children with, or suspected of having, steroid-resistant nephrotic syndrome (SRNS), referred to or treated in our hospital in the past 6 years as well as the correlation between genotype and phenotype in mutation-associated nephropathy in Chinese patients. In total, 76 patients participated in the study. mutations were identified in 15 patients, 5 of whom harbored splice-site mutations in intron 9.

High mutation rate of NPHP3 in 18 Chinese infantile nephronophthisis patients.

Aim: The present study was designed to explore mutations of NPHP2 and NPHP3 and clinical features in 18 Chinese infantile nephronophthisis (NPHP) patients.

Methods: Patients were subjected to screen for mutations in both NPHP2 and NPHP3, and clinical data were collected.

Results: Eighteen patients from 17 families were included in this study.