Targeted Next-Generation Sequencing in Brazilian Children With Nephrotic Syndrome Submitted to Renal Transplant

Feltran, Luciana de Santis; Varela, Patrícia Siqueira; Silva, Elton Dias; Veronez, Camila Lopes; Franco, Maria do Carmo Pinho; Filho, Álvaro Pacheco e Silva; Camargo, Maria Fernanda Carvalho de; Nogueira, Paulo Roberto; Pesquero, João Bosco

doi:10.1097/tp.0000000000001846

Cited by 19 publications

(22 citation statements)

References 39 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…In addition, although patients with steroid-resistant nephrotic syndrome who have a confirmed genetic diagnosis have increased risks of disease progression toward kidney failure, their risks of recurrence after kidney transplant are extremely low compared with those without (30%-50% risk) (1,55,56). Genetic diagnosis is also important in evaluating family members for living kidney donation, especially in cases of complex genetic associations such as APOL1 and complement genes.…”

Section: Current and Future Therapiesmentioning

confidence: 99%

Genetic Disorders of the Glomerular Filtration Barrier

Ingham

Lennon

2020

CJASN

View full text Add to dashboard Cite

The glomerular filtration barrier is a highly specialized capillary wall comprising fenestrated endothelial cells, podocytes, and an intervening basement membrane. In glomerular disease, this barrier loses functional integrity, allowing the passage of macromolecules and cells, and there are associated changes in both cell morphology and the extracellular matrix. Over the past three decades there has been a transformation in our understanding about glomerular disease, fueled by genetic discovery, and this is leading to exciting advances in our knowledge about glomerular biology and pathophysiology. In current clinical practice, a genetic diagnosis already has important implications for management ranging from estimating the risk of disease recurrence post-transplant to the lifechanging advances in the treatment of atypical hemolytic uremic syndrome. Improving our understanding about the mechanistic basis of glomerular disease is required for more effective and personalized therapy options. In this review we describe genotype and phenotype correlations for genetic disorders of the glomerular filtration barrier, with a particular emphasis on how these gene defects cluster by both their ontology and patterns of glomerular pathology.CJASN 15: ccc-ccc, 2020.

show abstract

Section: Current and Future Therapiesmentioning

confidence: 99%

Genetic Disorders of the Glomerular Filtration Barrier

Ingham

Lennon

2020

CJASN

View full text Add to dashboard Cite

show abstract

“…4 Outside the cell, RNLS acts as a potent pro-survival signal when it binds to its cell membrane receptor, the plasma membrane calcium adenosine triphosphatase isoform PMCA4, and activates a variety of intracellular signaling pathways including the protein kinase B (AKT), extracellularsignal-regulated kinase (ERK), and signal transducer and activator of transcription 3 (STAT3) pathways. [5][6][7] Administration of RNLS minimizes injury in in vivo models of myocardial infarction, 8 ischemic tubular necrosis, 9 and acute pancreatitis. S1 Conversely, RNLS deficiency in RNLS knockout mice exacerbates cisplatin-mediated acute and chronic renal injury, which is reversed by administration of RNLS.…”

Section: Supplementary Materialsmentioning

confidence: 99%

Brazilian Network of Pediatric Nephrotic Syndrome (REBRASNI)

Feltran

Watanabe

Guaragna

et al. 2020

Kidney International Reports

Self Cite

View full text Add to dashboard Cite

“…More than 50 genes related to FSGS have been described so far, most of them related to function or structure of podocytes. The identification of these genes and the understanding of the role of the mutation type in physiopathology and genotype/phenotype characterization have redefined diagnosis, treatment, and prognosis of nephrotic syndrome 11,12 . The genetic causes of FSGS may present as sporadic or familial disease, with autosomal dominant, autosomal recessive, X-linked, or mitochondrial (matrilineal) inheritance patterns.…”

Section: Introductionmentioning

confidence: 99%

Rare inherited kidney diseases: an evolving field in Nephrology

et al. 2020

View full text Add to dashboard Cite

There are more than 150 different rare genetic kidney diseases. They can be classified according to diagnostic findings as (i) disorders of growth and structure, (ii) glomerular diseases, (iii) tubular, and (iv) metabolic diseases. In recent years, there has been a shift of paradigm in this field. Molecular testing has become more accessible, our understanding of the underlying pathophysiologic mechanisms of these diseases has evolved, and new therapeutic strategies have become more available. Therefore, the role of nephrologists has progressively shifted from a mere spectator to an active player, part of a multidisciplinary team in the diagnosis and treatment of these disorders. This article provides an overview of the recent advances in rare hereditary kidney disorders by discussing the genetic aspects, clinical manifestations, diagnostic, and therapeutic approaches of some of these disorders, named familial focal and segmental glomerulosclerosis, tuberous sclerosis complex, Fabry nephropathy, and MYH-9 related disorder.

show abstract

Targeted Next-Generation Sequencing in Brazilian Children With Nephrotic Syndrome Submitted to Renal Transplant

Cited by 19 publications

References 39 publications

Genetic Disorders of the Glomerular Filtration Barrier

Genetic Disorders of the Glomerular Filtration Barrier

Brazilian Network of Pediatric Nephrotic Syndrome (REBRASNI)

Rare inherited kidney diseases: an evolving field in Nephrology

Contact Info

Product

Resources

About