E148Q as A Familial Mediterranean Fever-Causing Mutation: A Clinical-Based Study
نویسندگان
چکیده
منابع مشابه
E148Q is a disease-causing MEFV mutation: a phenotypic evaluation in patients with familial Mediterranean fever.
BACKGROUND Familial Mediterranean fever (FMF) is one of the periodic fever syndromes. It is common among Turks, Jews, Arabs, and Armenians. Several mutations in the MEFV gene, including E148Q, have been identified as causing this disease. It has been suggested that the E148Q mutation is the mildest mutation and some reports have questioned its disease association. OBJECTIVE To evaluate the ph...
متن کاملEXTENDED REPORT E148Q is a disease-causing MEFV mutation: a phenotypic evaluation in patients with familial Mediterranean fever
Background: Familial Mediterranean fever (FMF) is one of the periodic fever syndromes. It is common among Turks, Jews, Arabs, and Armenians. Several mutations in the MEFV gene, including E148Q, have been identified as causing this disease. It has been suggested that the E148Q mutation is the mildest mutation and some reports have questioned its disease association. Objective: To evaluate the ph...
متن کاملFAMILIAL MEDITERRANEAN FEVER: A STUDY OF 32 CASES
From April 1983 to September 1990, 32 patients with familial mediterranean fever (FMF) were studied. FMF is characterized by short, self-limited, febrile episodes that occur with inflammation of serosal surfaces. Major symptoms include fever and abdominal pain, presenting as acute surgical abdomen. These attacks are associated with considerable morbidity and in some patients lead to unnece...
متن کاملFamilial Mediterranean fever E148Q mutation, episodic fever and kidney allograft dysfunction.
Dear Editor, Familial Mediterranean fever (FMF) is a recessively inherited disease associated with mutations in the FMF gene (MEFV), which encodes the pyrin protein. AA amyloidosis is the most devastating complication of FMF. Nonamyloid renal lesions also have been reported including vasculitis, focal diffuse glomerulonephritis, and immunoglobulin A nephropathy. M694V is the most common mutatio...
متن کاملMassive proteinuria and acute glomerulonephritis picture in a patient with Familial Mediterranean fever and E148Q mutation.
Familial Mediterranean fever (FMF) is an inherited auto-inflammatory disorder. Secondary AA amyloidosis is the most devastating complication of FMF. Nonamyloid renal involvements have also been reported in association with FMF, including vasculitis, focal and diffuse glomerulonephritis, and IgA nephropathy. We describe a patient with FMF and E148Q mutation who presented with massive proteinuria...
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ژورنال
عنوان ژورنال: West Indian Medical Journal
سال: 2016
ISSN: 0043-3144
DOI: 10.7727/wimj.2016.162