ORPHAN DISEASES
ORPHAN DISEASES Autoinflammatory diseases Birgit Kortus-Götze, Marburg Figure 1 CONFERENCES Autoinflammatory diseases are disorders characterized by recurrent episodes of fever and acute multisystemic inflammation in the absence of an infectious or autoimmune stimulus. Autoinflammatory diseases are rare and belong to the category of orphan diseases. The most common autoinflammatory diseases are familial mediterranean fever (FMF), tumor necrosis factor receptor-associated periodic syndrome (TRAPS), cryopyrin-associated periodic syndrome (CAPS) and hyper-IgD syndrome. In addition to general symptoms, there is a wide range of systemic and organ involvement. As AA amyloidosis, especially renal amyloidosis, is a life-threatening, long-term complication, prognosis is determined primarily by the rate of the amyloidosis progression. In more than 90 % of patients, the first sign of AA amyloidosis onset is glomerular proteinuria. Over the course of time, the kidney damage progresses unpredictably and results in nephrotic syndrome, renal failure or even end-stage renal disease. Therefore, close monitoring of renal function is necessary. Muckle-Wells syndrome In our clinic, we have long-term experience in the diagnostic evaluation, care and treatment of patients with Muckle-Wells syndrome, one of three 30
ORPHAN DISEASES entities of the cryopyrin-associated periodic syndromes. General symptoms include recurrent episodes of fever, urticaria, myalgia and arthralgia, conjunctivitis, headache and fatigue syndrome. The long-term effects are progressive sensorineural hearing loss, social isolation due to fatigue syndrome and the AA-amyloidosis, mostly resulting in renal amyloidosis. In our patients, we observed various developments of renal function in biopsy-proven AA amyloidosis. Monitoring of renal function is necessary. Birgit Kortus-Götze, MD kortusgo@med.uni-marburg.de In 2010 we successfully performed kidney transplantation in one of our female patients with endstage renal disease due to AA amyloidosis in Muckle-Wells syndrome. Today, she has stable kidney transplant function and no indications of recurring amyloidosis. The underlying Muckle-Wells syndrome is in very good remission under a specific anti IL-1 inhibition. In future, we need more clinical studies to asses’s patients with these rare diseases. Figure 1: Renal amyloidosis. Colored scanning electron micrograph (SEM) of amyloid fibers from a patient with renal amyloidosis. Amyloidosis is a group of rare but serious conditions caused by deposits of abnormal protein, called amyloid, in tissues and organs throughout the body. The kidneys are the organs most commonly involved in amyloidosis. Renal failure caused by widespread amyloidosis accounts for the majority of deaths from the disease. CONFERENCES 54 th ERA-EDTA Congress 31
