08793 - Nephrology

Learning outcomes

The course aims to supply the students with general knowledge of the principal pathology of nephrological interest focusing the attention on the relationship between genotype and phenotype. In particular the diseases which have pathological modifications related to genetic changes will be highlighted, both monogenic and polygenic diseases. Concerning monogenic diseases the ones in the context of cystic renal diseases and glomerular diseases will be treated. Complex pathologies with elevated prevalence in the population will be examined (arterial hypertension, chronic renal failure, glomerulonephrithis, etc.) highlighting the elements of correlation with genotype. In this area the role of alteration will be analysed in more than one gene and the role of genetic polymorphisms on the resulting phenotype. The aim of this analysis is to highlight that the genetic part is the take off point which is also affected by the environment leading to pathological features distinctive of every person. In the last part of the course possible therapeutic strategies through molecular approach will be evaluated, both by gene therapy and the use of stem cells.

Course contents

1. Molecular basis of normal and pathological kidney development.
   
2. Embryogenesis and principal renal malformations.
   
3. Monogenic diseases of renal interest (Recessive and Dominant Polycystic Disease, Nephronophthisis, Alport Syndrome, Glomerulocystic disease, other glomerulopathies).
   
4. Polygenic diseases of renal interest (Arterial hypertension, Chronic Renal Failure, Focal Sclerosing Glomerulonephritis, Membranous Glomerulonephritis).
   
5. Fabry Syndrome.
   
6. Microangiopathies (Hemolytic Uremic Syndrome, Thrombotic Thrombocytopenic Purpura).
   
7. Gravidic Gestosis.
   
8. Molecular features of patients in dialytic treatment.
   
9. Molecular features of transplanted patients.
   
10. Therapeutic strategies (stem cells and gene therapy).

Readings/Bibliography

-    Notes supplied by the teaching professor.

-    Braunwald Eugene. Harrison. Principi di medicina interna. 15^ edizione 2004. Malattie del rene e delle vie urinarie. McGraw-Hill Companies.

Teaching methods

The course is made up of a theoretical part which foresees that the lessons deal with the main diseases of nephrological interest highlighting the importance of the genetic component. The students will also have the chance to attend a one-week programmed work-placement concerning the research activity of nephrologic laboratory related to the unit of Nephrology, Dialysis and Kidney Transplant.

Assessment methods

There will be an oral exam.

Teaching tools

Overhead projector, PC, work-placements.

Office hours

See the website of Gaetano La Manna