Related Experiment Video
Updated: May 25, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Mesangial proliferative glomerulonephritis in familial Mediterranean fever patient with E148Q mutation: the first
Eray Eroglu1, Ismail Kocyigit, Ozturk Ates
1Department of Internal Medicine, Erciyes University Medical School, Kayseri, Turkey. drerayeroglu@hotmail.com
Abstract:
Familial Mediterranean fever (FMF) is an autosomal recessive hereditary disease characterized by recurrent attacks of fever, usually accompanied by sterile polyserositis. Although amyloidosis is the most common renal involvement, non-amyloid renal lesions, such as glomerulonephritis, have been described in patients with FMF. In this report, we present the first case of an FMF patient with heterozygous mutation of E148Q, mesangial proliferative glomerulonephritis, and no amyloidosis. While the association of mutation E148Q with renal involvement is still obscure, colchicine treatment is useful in mesangial proliferative glomerulonephritis with FMF.
Insights
Familial Mediterranean Fever (FMF) patients can develop non-amyloid kidney disease like glomerulonephritis, even with the E148Q mutation. Colchicine may effectively treat this condition in FMF patients.
Area of Science:
- Nephrology
- Genetics
- Rheumatology
Background:
- Familial Mediterranean Fever (FMF) is an autosomal recessive autoinflammatory disease.
- Renal involvement in FMF commonly presents as amyloidosis.
- Non-amyloid renal lesions, including glomerulonephritis, are less common but documented.
Related Concept Videos
Nephrotic Syndrome I : Introduction
Nephrotic Syndrome II : Assessment and Medical Management

