tailieunhanh - báo cáo khoa học: "Renal and suprarenal insufficiency secondary to familial Mediterranean fever associated with amyloidosis: a case report"

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Renal and suprarenal insufficiency secondary to familial Mediterranean fever associated with amyloidosis: a case report | Toros et al. Journal of Medical Case Reports 2011 5 390 http content 5 1 390 JOURNAL OF MEDICAL CASE REPORTS CASE REPORT Open Access Renal and suprarenal insufficiency secondary to familial Mediterranean fever associated with amyloidosis a case report Ahmet Burak Toros1 Fusun Erdenen2 Nagehan Didem Sari3 and Serkan Gokcay2 Abstract Introduction Familial Mediterranean fever is an autosomal recessive disease that predominantly affects people of the Mediterranean coast. One of the most frequent complications of the disease is amyloidosis. This clinical entity is known as secondary also called AA amyloidosis. Case presentation In this report we describe the case of a 33-year-old Turkish man with familial Mediterranean fever and chronic renal insufficiency. He was admitted to our clinic with symptoms of suprarenal insufficiency. The patient died three months later as a result of cardiac arrest. Conclusion Our aim is to make a contribution to the literature by reporting a case of combined insufficiency due to the accumulation of renal and adrenal amyloid in a patient with familial Mediterranean fever which has very rarely been described in the literature. We hope that adrenal insufficiency which becomes fatal if not diagnosed and treated rapidly will come to mind as easily as chronic renal failure in clinical practice. Introduction Familial Mediterranean fever FMF is an autoinflamma-tory inherited autosomal recessive disease observed especially in Jewish Arabian Armenian and Turkish communities 1 . FMF occurs as a result of mutations in the Mediterranean fever MEFV gene. The MEFV gene resides on the 16th chromosome. More than 75 mutations associated with FMF have been found. Pyrin or marenostrin the protein expressed by the MEFV gene is basically observed in myelomonocytic cells 2 . The development of renal amyloid is observed during early childhood in the vast majority of patients with FMF and is associated with symptoms such as fever .