Monogenetic autoinflammatory syndromes and nephrology - therapy is usefull even in advanced kidney failure

Objectives The identification of genes involved in the modulation of inflammatory processes has allowed the delineation of a new group of diseases called “Monogenetic Autoinflammatory Syndromes MAISs”. At the moment, 25 syndromes and their gene-disorders are known. Some of them are well known (eg Familial Mediterranean Fever), most of them are rare diseases (eg FCAS-Familial Cold-Autoinflammatory Syndrome, Blau Syndrome, HIDS-Hyperimmuno-globulinemiaD with Periodic Fever Syndrome, MA-Mevalonate Aciduria). These disorders of innate immunity characterized by episodes of fever and systemic inflammatory symptoms affect for instance the serosal surfaces and bear the risk of developing reactive systemic (AA) amyloidosis due to excessive production of serum amyloid-A (SAA). SAA is deposited in various organs, particularly the kidneys, with the consequent progressive development of kidney failure[1,2].