Podocytopathies

JB Kopp, HJ Anders, K Susztak, MA Podestà… - Nature Reviews …, 2020 - nature.com
Podocytopathies are kidney diseases in which direct or indirect podocyte injury drives
proteinuria or nephrotic syndrome. In children and young adults, genetic variants in> 50 …

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 …

[图书][B] Campbell Walsh Wein Urology, E-Book: 3-Volume Set

AW Partin, RR Dmochowski, LR Kavoussi, CA Peters… - 2020 - books.google.com
From the basic science underpinnings to the most recent developments in medical and
surgical care, Campbell-Walsh-Wein Urology offers a depth and breadth of coverage you …

A review of podocyte biology

P Garg - American journal of nephrology, 2018 - karger.com
Background: Podocyte biology is a developing science that promises to help improve
understanding of the mechanistic nature of multiple diseases associated with proteinuria …

Exploring the genetic basis of early-onset chronic kidney disease

A Vivante, F Hildebrandt - Nature Reviews Nephrology, 2016 - nature.com
The primary causes of chronic kidney disease (CKD) in children differ from those of CKD in
adults. In the USA the most common diagnostic groups of renal disease that manifest before …

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 …

A molecular mechanism explaining albuminuria in kidney disease

L Butt, D Unnersjö-Jess, M Höhne, A Edwards… - Nature …, 2020 - nature.com
Mammalian kidneys constantly filter large amounts of liquid, with almost complete retention
of albumin and other macromolecules in the plasma. Breakdown of the three-layered renal …

[HTML][HTML] Management and treatment of glomerular diseases (part 2): conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies …

BH Rovin, DJ Caster, DC Cattran, KL Gibson… - Kidney international, 2019 - Elsevier
In November 2017, the Kidney Disease: Improving Global Outcomes (KDIGO) initiative
brought a diverse panel of experts in glomerular diseases together to discuss the 2012 …

Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency

S Lovric, S Goncalves, HY Gee… - The Journal of …, 2017 - Am Soc Clin Investig
Steroid-resistant nephrotic syndrome (SRNS) causes 15% of chronic kidney disease cases.
A mutation in 1 of over 40 monogenic genes can be detected in approximately 30% of …

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 …