IPNA clinical practice recommendations for the diagnosis and management of children with steroid-resistant nephrotic syndrome

A Trautmann, M Vivarelli, S Samuel, D Gipson… - Pediatric …, 2020 - Springer
Idiopathic nephrotic syndrome newly affects 1–3 per 100,000 children per year.
Approximately 85% of cases show complete remission of proteinuria following …

Differentiating primary, genetic, and secondary FSGS in adults: a clinicopathologic approach

AS De Vriese, S Sethi, KA Nath… - Journal of the …, 2018 - journals.lww.com
FSGS describes a renal histologic lesion with diverse causes and pathogenicities that are
linked by podocyte injury and depletion. Subclasses of FSGS include primary, genetic, and …

[HTML][HTML] Diagnostic utility of exome sequencing for kidney disease

EE Groopman, M Marasa… - … England Journal of …, 2019 - Mass Medical Soc
Background Exome sequencing is emerging as a first-line diagnostic method in some
clinical disciplines, but its usefulness has yet to be examined for most constitutional …

Adeno-associated virus gene therapy prevents progression of kidney disease in genetic models of nephrotic syndrome

WY Ding, V Kuzmuk, S Hunter, A Lay… - Science Translational …, 2023 - science.org
Gene therapy for kidney diseases has proven challenging. Adeno-associated virus (AAV) is
used as a vector for gene therapy targeting other organs, with particular success …

Whole exome sequencing of patients with steroid-resistant nephrotic syndrome

JK Warejko, W Tan, A Daga, D Schapiro… - Clinical Journal of the …, 2018 - journals.lww.com
Results In 74 of 300 families (25%), we identified a causative mutation in one of 20 genes
known to cause steroid-resistant nephrotic syndrome. In 11 families (3.7%), we detected a …

Whole-exome sequencing in adults with chronic kidney disease: a pilot study

S Lata, M Marasa, Y Li, DA Fasel… - Annals of internal …, 2018 - acpjournals.org
Background: The utility of whole-exome sequencing (WES) for the diagnosis and
management of adult-onset constitutional disorders has not been adequately studied …

Management of steroid-resistant nephrotic syndrome in children and adolescents

K Tullus, H Webb, A Bagga - The Lancet Child & Adolescent Health, 2018 - thelancet.com
More than 85% of children and adolescents (majority between 1–12 years old) with
idiopathic nephrotic syndrome show complete remission of proteinuria following daily …

Management of congenital nephrotic syndrome: consensus recommendations of the ERKNet-ESPN Working Group

O Boyer, F Schaefer, D Haffner… - Nature Reviews …, 2021 - nature.com
Congenital nephrotic syndrome (CNS) is a heterogeneous group of disorders characterized
by nephrotic-range proteinuria, hypoalbuminaemia and oedema, which manifest in utero or …

Genetic testing in steroid-resistant nephrotic syndrome: why, who, when and how?

R Preston, HM Stuart, R Lennon - Pediatric nephrology, 2019 - Springer
Steroid-resistant nephrotic syndrome (SRNS) is a common cause of chronic kidney disease
in childhood and has a significant risk of rapid progression to end-stage renal disease. The …

Genomic medicine for kidney disease

EE Groopman, HM Rasouly, AG Gharavi - Nature Reviews Nephrology, 2018 - nature.com
Technologies such as next-generation sequencing and chromosomal microarray have
advanced the understanding of the molecular pathogenesis of a variety of renal disorders …