Molecular stratification of idiopathic nephrotic syndrome

MA Saleem - Nature Reviews Nephrology, 2019 - nature.com
Idiopathic nephrotic syndrome (INS) describes a group of pathologies of the renal
glomerulus that result in the classic triad of heavy proteinuria, oedema and …

Treatment of steroid-resistant nephrotic syndrome in the genomic era

AR Bensimhon, AE Williams, RA Gbadegesin - Pediatric nephrology, 2019 - Springer
The pathogenesis of steroid-resistant nephrotic syndrome (SRNS) is not completely known.
Recent advances in genomics have elucidated some of the molecular mechanisms and …

Treatment with 2, 4-dihydroxybenzoic acid prevents FSGS progression and renal fibrosis in podocyte-specific Coq6 knockout mice

E Widmeier, M Airik, H Hugo, D Schapiro… - Journal of the …, 2019 - journals.lww.com
Background Although studies have identified> 55 genes as causing steroid-resistant
nephrotic syndrome (SRNS) and localized its pathogenesis to glomerular podocytes, the …

Management of children with congenital nephrotic syndrome: challenging treatment paradigms

S Dufek, T Holtta, A Trautmann, E Ylinen… - Nephrology Dialysis …, 2019 - academic.oup.com
Background Management of children with congenital nephrotic syndrome (CNS) is
challenging. Bilateral nephrectomies followed by dialysis and transplantation are practiced …

[HTML][HTML] Coenzyme Q10 in the Treatment of Mitochondrial Disease

V Neergheen, A Chalasani, L Wainwright… - Journal of Inborn …, 2019 - SciELO Brasil
Currently, there is a paucity of available treatment strategies for oxidative phosphorylation
disorders. Coenzyme Q10 (CoQ10) and related synthetic quinones are the only agents to …

TBC1D8B mutations implicate RAB11-dependent vesicular trafficking in the pathogenesis of nephrotic syndrome

LL Kampf, R Schneider, L Gerstner… - Journal of the …, 2019 - journals.lww.com
Background Mutations in about 50 genes have been identified as monogenic causes of
nephrotic syndrome, a frequent cause of CKD. These genes delineated the pathogenetic …

APOL1 risk genotype in European steroid-resistant nephrotic syndrome and/or focal segmental glomerulosclerosis patients of different African ancestries

O Gribouval, O Boyer, B Knebelmann… - Nephrology Dialysis …, 2019 - academic.oup.com
Abstract Background Apolipoprotein L1 (APOL1) risk variants are strongly associated with
sporadic focal segmental glomerulosclerosis (FSGS) in populations with African ancestry …

Long-term follow-up results of patients with ADCK4 mutations who have been diagnosed in the asymptomatic period: effects of early initiation of CoQ10 …

M Atmaca, B Gülhan, E Atayar, AK Bayazıt… - The Turkish Journal …, 2019 - turkjpediatr.org
Atmaca M, Gülhan B, Atayar E, Karabay Bayazıt A, Candan C, Arıcı M, Topaloğlu R, Özaltın
F. Long-term follow-up results of patients with ADCK4 mutations who have been diagnosed …

The search for biomarkers to aid in diagnosis, differentiation, and prognosis of childhood idiopathic nephrotic syndrome

H Stone, B Magella, MR Bennett - Frontiers in Pediatrics, 2019 - frontiersin.org
Identification of genes associated with childhood-onset nephrotic syndrome has significantly
advanced our understanding of the pathogenesis of this complex disease over the past two …

Panel sequencing distinguishes monogenic forms of nephritis from nephrosis in children

D Schapiro, A Daga, JA Lawson… - Nephrology Dialysis …, 2019 - academic.oup.com
Background Alport syndrome (AS) and atypical hemolytic–uremic syndrome (aHUS) are rare
forms of chronic kidney disease (CKD) that can lead to a severe decline of renal function …