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Familial Mediterranean fever (FMF)-associated amyloidosis in childhood. Clinical features, course and outcome
N Cakar1, F Yalçinkaya, N Ozkaya
1Department of Pediatric Nephrology, Ankara Social Security Children's Hospital, Ankara, Turkey. nilguncakar@hotmail.com
Objective:
Familial Mediterranean fever (FMF) is an autosomal recessive disorder of childhood characterized by attacks of fever and serositis. Renal amyloidosis is the most important complication of the disease that determines the prognosis.
Methods:
Forty-eight Turkish FMF patients with amyloidosis who have been followed at the two hospitals in Ankara were included in this study.
Results:
All patients with amyloidosis had been symptomatic for FMF at the time of the diagnosis (Phenotype I), none had received regular colchicine therapy and all presented with proteinuria. Ten of them had asymptomatic proteinuria; 38 had nephrotic syndrome and 8 of them had renal insufficiency (CRI) as well, at the time of the diagnosis. Regular colchicine therapy was commenced to all of the patients. At the end of observation period of 4.5 +/- 2.23 years (range 2-12 yrs) on treatment, nephrotic syndrome resolved in 13 patients and proteinuria was lost in 5 of them. None but 2 of the patients who were diagnosed at proteinuric stage progressed to end stage renal failure (ESRF). Seven MEFV mutations (M694V, M680I, V726A, M694I, K695R, R761H, E148Q) were systematically investigated in 32 patients. Six of the seven studied mutations were found in these patients and clinical diagnosis was confirmed by mutation analysis in 24 patients. Eight patients were found to have mutations on one of the alleles.
Conclusion:
Amyloidosis is the most serious complication of FMF. Colchicine treatment ameliorates the progression of renal disease in the patients who presented with proteinuria and even with nephrotic syndrome. No correlation between the outcome of the patients with nephrotic syndrome and the degree of proteinuria and/or serum albumin levels at the initiation of treatment were noted. Progression to ESRF seems inevitable despite colchicine therapy after the development of CRI in patients with FMF associated amyloidosis.
Insights
Colchicine treatment can improve kidney disease in Familial Mediterranean Fever (FMF) patients with proteinuria and nephrotic syndrome. However, progression to end-stage renal failure may still occur if chronic renal insufficiency develops.
Area of Science:
- Nephrology
- Genetics
- Rheumatology
Background:
- Familial Mediterranean Fever (FMF) is an inherited autoinflammatory disorder.
- Renal amyloidosis is a severe complication of FMF, significantly impacting patient prognosis.
- Early diagnosis and management are crucial for FMF patients at risk of kidney complications.
Purpose of the Study:
- To evaluate the efficacy of colchicine treatment on renal amyloidosis progression in FMF patients.
- To assess the impact of colchicine on proteinuria, nephrotic syndrome, and renal insufficiency.
- To investigate the correlation between clinical presentation and treatment outcomes.
Main Methods:
- Retrospective analysis of 48 Turkish FMF patients with amyloidosis.
- All patients received regular colchicine therapy.
- Clinical data, including proteinuria, nephrotic syndrome, and renal function, were monitored.
- MEFV gene mutations were analyzed in a subset of patients.
Main Results:
- Colchicine treatment led to resolution of nephrotic syndrome in 13 patients and proteinuria in 5.
- Only 2 patients diagnosed with proteinuria progressed to end-stage renal failure (ESRF).
- Progression to ESRF was observed in patients who developed chronic renal insufficiency (CRI) despite colchicine therapy.
Conclusions:
- Colchicine therapy is effective in ameliorating renal disease progression in FMF patients with proteinuria and nephrotic syndrome.
- The development of CRI indicates an inevitable progression to ESRF, even with colchicine treatment.
- No correlation was found between initial proteinuria/albumin levels and outcomes in nephrotic syndrome patients.