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Mutations In Keops-Complex Genes Cause Nephrotic Syndrome With Primary Microcephaly
(Nature Publishing Group, 2017)
Galloway-Mowat syndrome (GAMOS) is an autosomal-recessive disease characterized by the combination of early-onset nephrotic syndrome (SRNS) and microcephaly with brain anomalies. Here we identified recessive mutations in ...
Specific Podocin Mutations Correlate With Age Of Onset In Steroid-Resistant Nephrotic Syndrome
(Amer Soc Nephrology, 2008)
Mutations in the gene encoding podocin (NPHS2) cause autosomal recessive steroid-resistant nephrotic syndrome (SRNS). For addressing the possibility of a genotype-phenotype correlation between podocin mutations and age of ...
The Clinical and Mutational Spectrum of Turkish Patients with Cystinosis
(Amer Soc Nephrology, 2017)
Background and objectives Infantile nephropathic cystinosis is a severe disease that occurs due to mutations in the cystinosis gene, and it is characterized by progressive dysfunction of multiple organs; >100 cystinosis ...
Thirteen Novel Nphs1 Mutations In A Large Cohort Of Children With Congenital Nephrotic Syndrome
(Oxford Univ Press, 2008)
Background. Congenital nephrotic syndrome (CNS) is defined as nephrotic syndrome that manifests at birth or within the first 3 months of life. Most patients develop end-stage renal disease (ESRD) within 2 to 3 years of ...
Long-Term Outcome of Steroid-Resistant Nephrotic Syndrome in Children
(Amer Soc Nephrology, 2017)
We investigated the value of genetic, histopathologic, and early treatment response information in prognosing long-term renal outcome in children with primary steroid-resistant nephrotic syndrome. From the PodoNet Registry, ...
Low Renal but High Extrarenal Phenotype Variability in Schimke Immuno-Osseous Dysplasia
(2017)
Schimke immuno-osseous dysplasia (SIOD) is a rare multisystem disorder with early mortality and steroid-resistant nephrotic syndrome (SRNS) progressing to end-stage kidney disease. We hypothesized that next-generation gene ...
Normal 25-Hydroxyvitamin D Levels Are Associated With Less Proteinuria And Attenuate Renal Failure Progression In Children With Ckd
(Amer Soc Nephrology, 2016)
Angiotensin-converting enzyme inhibitors (ACEi) for renin-angiotensin-aldosterone system (RAAS) blockade are routinely used to slow CKD progression. However, vitamin D may also promote renoprotection by suppressing renin ...
Myo1E Mutations And Childhood Familial Focal Segmental Glomerulosclerosis
(Massachusetts Medical Soc, 2011)
BACKGROUND Focal segmental glomerulosclerosis is a kidney disease that is manifested as the nephrotic syndrome. It is often resistant to glucocorticoid therapy and progresses to end-stage renal disease in 50 to 70% of ...
Proteinuria in Frasier Syndrome
(Srpsko Lekarsko Drustvo, 2013)
Introduction Frasier syndrome (FS) is a genetic form of glomerulopathy, which results from mutations in the Wilms' tumour suppressor gene (WT1). Proteinuria in FS has been traditionally considered unresponsive to any ...
Nphs2 Gene Mutation In An Iranian Family With Familial Steroid-Resistant Nephrotic Syndrome
(Soc Espanola Nefrologia Dr Rafael Matesanz, 2012)