Nephrotic syndrome in childhood
AA Eddy, JM Symons - The lancet, 2003 - thelancet.com
Childhood nephrotic syndromes are most commonly caused by one of two idiopathic
diseases: minimal-change nephrotic syndrome (MCNS) and focal segmental …
diseases: minimal-change nephrotic syndrome (MCNS) and focal segmental …
Hereditary proteinuria syndromes and mechanisms of proteinuria
K Tryggvason, J Patrakka… - New England Journal of …, 2006 - Mass Medical Soc
Hereditary Proteinuria Syndromes and Mechanisms of Proteinuria | New England Journal of
Medicine Skip to main content The New England Journal of Medicine homepage Advanced …
Medicine Skip to main content The New England Journal of Medicine homepage Advanced …
Long-term outcome of steroid-resistant nephrotic syndrome in children
A Trautmann, S Schnaidt… - Journal of the …, 2017 - journals.lww.com
We investigated the value of genetic, histopathologic, and early treatment response
information in prognosing long-term renal outcome in children with primary steroid-resistant …
information in prognosing long-term renal outcome in children with primary steroid-resistant …
Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome
RG Ruf, A Lichtenberger, SM Karle… - Journal of the …, 2004 - journals.lww.com
Nephrotic syndrome (NS) represents the association of proteinuria, hypoalbuminemia,
edema, and hyperlipidemia. Steroid-resistant NS (SRNS) is defined by primary resistance to …
edema, and hyperlipidemia. Steroid-resistant NS (SRNS) is defined by primary resistance to …
[HTML][HTML] NPHS2 mutation analysis shows genetic heterogeneityof steroid-resistant nephrotic syndrome and lowpost-transplant recurrence
S Weber, O Gribouval, EL Esquivel, V Morinière… - Kidney international, 2004 - Elsevier
NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic
syndrome and low post-transplant recurrence. Background Mutations of NPHS2 are …
syndrome and low post-transplant recurrence. Background Mutations of NPHS2 are …
Molecular basis of the functional podocin–nephrin complex: mutations in the NPHS2 gene disrupt nephrin targeting to lipid raft microdomains
TB Huber, M Simons, B Hartleben… - Human molecular …, 2003 - academic.oup.com
Hereditary nephrotic syndrome is a heterogeneous disease, characterized by heavy
proteinuria and renal failure. Mutations of NPHS1 or NPHS2, the genes encoding for …
proteinuria and renal failure. Mutations of NPHS1 or NPHS2, the genes encoding for …
[HTML][HTML] Exploring the clinical and genetic spectrum of steroid resistant nephrotic syndrome: the PodoNet registry
A Trautmann, BS Lipska-Ziętkiewicz… - Frontiers in …, 2018 - frontiersin.org
Background: Steroid resistant nephrotic syndrome (SRNS) is a rare condition, accounting for
10–15% of all children with idiopathic nephrotic syndrome. SRNS can be caused by genetic …
10–15% of all children with idiopathic nephrotic syndrome. SRNS can be caused by genetic …
Early glomerular filtration defect and severe renal disease in podocin-deficient mice
S Roselli, L Heidet, M Sich, A Henger… - … and cellular biology, 2004 - Am Soc Microbiol
Podocytes are specialized epithelial cells covering the basement membrane of the
glomerulus in the kidney. The molecular mechanisms underlying the role of podocytes in …
glomerulus in the kidney. The molecular mechanisms underlying the role of podocytes in …
[HTML][HTML] NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele
H Tsukaguchi, A Sudhakar, TC Le… - The Journal of …, 2002 - Am Soc Clin Investig
Mutations in NPHS2, encoding podocin, have been identified in childhood onset focal and
segmental glomerulosclerosis (FSGS). The role of NPHS2 in adult disease is less well …
segmental glomerulosclerosis (FSGS). The role of NPHS2 in adult disease is less well …
Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome
F Wang, Y Zhang, J Mao, Z Yu, Z Yi, LI Yu, J Sun… - Pediatric …, 2017 - Springer
Background The aim of this study was to elucidate whether genetic screening test results of
pediatric patients with steroid-resistant nephrotic syndrome (SRNS) vary with ethnicity …
pediatric patients with steroid-resistant nephrotic syndrome (SRNS) vary with ethnicity …