Mucin-1 Gene Mutation and the Kidney: The Link between Autosomal Dominant Tubulointerstitial Kidney Disease and Focal and Segmental Glomerulosclerosis

Case Reports in Nephrology
H TrimarchiA Iotti

Abstract

Glomerular diseases are one of the most frequent causes of chronic kidney disease, focal and segmental glomerulosclerosis being one of the commonest glomerulopathies. However, the etiology of this glomerular entity, which merely depicts a morphologic pattern of disease, is often not established and, in most of the patients, remains unknown. Nephrologists tend to assume focal and segmental glomerulosclerosis as a definitive diagnosis. However, despite the increasing knowledge developed in the field, genetic causes of glomerular diseases are currently identified in fewer than 10% of chronic kidney disease subjects. Moreover, unexplained familial clustering among dialysis patients suggests that genetic causes may be underrecognized. Secondary focal and segmental glomerulosclerosis due to genetic mutations mainly located in the podocyte and slit diaphragm can occur from childbirth to adulthood with different clinical presentations, ranging from mild proteinuria and normal renal function to nephrotic syndrome and renal failure. However, this histopathological pattern can also be due to primary defects outside the glomerulus. The present report illustrates an adult case of secondary focal and segmental glomerulosclerosis with a domin...Continue Reading

References

Nov 24, 2004·American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation·Francesco ScolariGian Marco Ghiggeri
Jun 29, 2005·American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation·Xosé M LensVicente Barrio-Lucía
Aug 15, 2006·Trends in Cell Biology·Pankaj K Singh, Michael A Hollingsworth
Aug 12, 2009·American Journal of Human Genetics·Martina ZivnáStanislav Kmoch
Sep 3, 2010·Seminars in Nephrology·Anthony J BleyerStanislav Kmoch
Jul 22, 2011·Kidney International·Stanislas FaguerDominique Chauveau
Aug 30, 2014·Kidney International·Anthony J Bleyer, Stanislav Kmoch
Dec 30, 2014·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Laura LabriolaOlivier Devuyst
Mar 5, 2015·Kidney International·Kai-Uwe EckardtUNKNOWN Kidney Disease: Improving Global Outcomes

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