Nail-Patella Syndrome

Fernandes, Gisele Cristine Dyonísio; Torres, Ulysses S.; Funes, E; Toledo, Roberto Acayaba de

doi:10.1097/rhu.0b013e31823272ed

Cited by 3 publications

(1 citation statement)

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“…Mutations in Lmx1b cause nail-patella syndrome (NPS), an autosomal dominant disease with skeletal abnormalities, nail hypoplasia, and nephropathy [ 70 ]. Renal involvement occurs in 25% to 60% of cases, ranging from nonnephrotic proteinuria to end-stage renal disease [ 71 ]. Ultrastructurally, foot process effacement was observed for a certain percentage of podocytes [ 72 ].…”

Section: Podocytes and Proteinuriamentioning

confidence: 99%

Progress in Pathogenesis of Proteinuria

Zhang

Huang

2012

International Journal of Nephrology

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Aims. Proteinuria not only is a sign of kidney damage, but also is involved in the progression of renal diseases as an independent pathologic factor. Clinically, glomerular proteinuria is most commonly observed, which relates to structural and functional anomalies in the glomerular filtration barrier. The aim of this paper was to describe the pathogenesis of glomerular proteinuria. Data Sources. Articles on glomerular proteinuria retrieved from Pubmed and MEDLINE in the recent 5 years were reviewed. Results. The new understanding of the roles of glomerular endothelial cells and the glomerular basement membrane (GBM) in the pathogenesis of glomerular proteinuria was gained. The close relationships of slit diaphragm (SD) molecules such as nephrin, podocin, CD2-associated protein (CD2AP), a-actinin-4, transient receptor potential cation channel 6 (TRPC6), Densin and membrane-associated guanylate kinase inverted 1 (MAGI-1), α3β1 integrin, WT1, phospholipase C epsilon-1 (PLCE1), Lmx1b, and MYH9, and mitochondrial disorders and circulating factors in the pathogenesis of glomerular proteinuria were also gradually discovered. Conclusion. Renal proteinuria is a manifestation of glomerular filtration barrier dysfunction. Not only glomerular endothelial cells and GBM, but also the glomerular podocytes and their SDs play an important role in the pathogenesis of glomerular proteinuria.

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Section: Podocytes and Proteinuriamentioning

confidence: 99%