From renal amyloid deposits to the identification of the culprit genes.
Hereditary amyloidoses with renal involvement are classified in two groups. The first group is a growing family of autoinflammatory disorders characterized by recurrent fever attacks. Amyloidosis is caused by the deposition of amyloid A (AA) protein, which is a degradation product of a normal serum acute-phase protein: serum amyloid A (SAA). The prototype is familial Mediterranean fever (FMF). TNF Receptor Associated Periodic Syndrome (TRAPS) is a recently recognized periodic fever syndrome, differing from FMF in several characteristics: autosomal-dominant transmission, longer duration of attacks, and lack of response to colchicine prophylaxis. The second group comprises a variety of disorders, each characterized by the deposition of a specific mutant protein. The prototype is transthyretin amyloidosis (TTR). Identification of the form of amyloidosis has clinical implications. Therefore, in a patient with a history of recurrent fever attacks and AA amyloidosis, a diagnosis of FMF or TRAPS dictates appropriate genetic counseling and management. In patients with renal amyloidosis without a history of fever, identification of the mutant protein is therapeutically crucial; therefore, when the cell type that produces the precursor is (exclusively or mainly) the hepatocyte, a liver transplantation is to be considered.
Pirson
Yves
Y
Nephrology Department, Cliniques St Luc, Université Catholique de Louvain, Brussels, Belgium. pirson@nefr.ucl.ac.be
D000686:Amyloidosis / Q000145:classification / Q000150:complications / Q000235:genetics* / Q000378:metabolism*; D010505:Familial Mediterranean Fever / Q000145:classification; D005334:Fever / Q000145:classification / Q000235:genetics / Q000378:metabolism; D006801:Humans; D007668:Kidney / Q000378:metabolism*; D007674:Kidney Diseases / Q000209:etiology; D009154:Mutation; D011228:Prealbumin / Q000235:genetics / Q000378:metabolism; D018124:Receptors, Tumor Necrosis Factor / Q000378:metabolism; D000685:Serum Amyloid A Protein / Q000378:metabolism*; D013577:Syndrome
D011228:Prealbumin; D018124:Receptors, Tumor Necrosis Factor; D000685:Serum Amyloid A Protein