CENTRAL ASIAN JOURNAL OF NEPHROLOGY
Case Report
Nov 14, 2025 115 101

AA-Amyloidosis in an Adolescent with Familial Mediterranean Fever: A Case Report

Saltanat Rakhimzhanova 1,
Galiya Shaimardanova 2,
Aigerim Smagulova 2,
Aidana Nalibek 1 *
1 Department of Nephrology and Dialysis, University Medical Center, Astana, Kazakhstan2 Department of Pathomorphology, National Scientific Medical Center, Astana, Kazakhstan* Corresponding Author
Central Asian Journal of Nephrology, 1(2), 2025, cajn008, https://doi.org/10.63946/cajn/17421
Publication date: Nov 14, 2025
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ABSTRACT

Familial Mediterranean Fever (FMF) is an autosomal recessive autoinflammatory disorder caused by mutations in the MEFV gene. It is most common among populations from the Eastern Mediterranean region, including Turks, Armenians, Arabs, and Sephardic Jews. One of the most serious complications of FMF is AA amyloidosis, which develops as a result of chronic inflammation and the deposition of serum amyloid A protein. AA amyloidosis frequently affects the kidneys, leading to nephrotic syndrome and chronic kidney disease.
We report a case of a 17-year-old Turkish male presenting with recurrent episodes of fever, joint pain, periodic skin rashes, and intermittent hypertension. Laboratory evaluation revealed nephrotic-range proteinuria, hypoalbuminemia, low serum IgG, and elevated inflammatory markers. Renal biopsy confirmed AA amyloidosis with moderate interstitial lymphocytic infiltration and mild fibrosis. Genetic testing identified a homozygous pathogenic variant in exon 10 of the MEFV gene (p.Met694Val), previously reported and strongly associated with FMF.
This case highlights the rarity of such presentations and emphasizes the importance of early diagnosis of FMF complicated by AA amyloidosis. The patient remains on colchicine therapy with careful monitoring for potential complications; corticosteroids were gradually tapered following confirmation of amyloidosis, with supportive and symptomatic management continued.
 

KEYWORDS

Familial Mediterranean Fever Secondary amyloidosis (AA) MEFV protein nephrotic syndrome renal biopsy

CITATION (Vancouver)

Rakhimzhanova S, Shaimardanova G, Smagulova A, Nalibek A. AA-Amyloidosis in an Adolescent with Familial Mediterranean Fever: A Case Report. Central Asian Journal of Nephrology. 2025;1(2):cajn008. https://doi.org/10.63946/cajn/17421
APA
Rakhimzhanova, S., Shaimardanova, G., Smagulova, A., & Nalibek, A. (2025). AA-Amyloidosis in an Adolescent with Familial Mediterranean Fever: A Case Report. Central Asian Journal of Nephrology, 1(2), cajn008. https://doi.org/10.63946/cajn/17421
Harvard
Rakhimzhanova, S., Shaimardanova, G., Smagulova, A., and Nalibek, A. (2025). AA-Amyloidosis in an Adolescent with Familial Mediterranean Fever: A Case Report. Central Asian Journal of Nephrology, 1(2), cajn008. https://doi.org/10.63946/cajn/17421
AMA
Rakhimzhanova S, Shaimardanova G, Smagulova A, Nalibek A. AA-Amyloidosis in an Adolescent with Familial Mediterranean Fever: A Case Report. Central Asian Journal of Nephrology. 2025;1(2), cajn008. https://doi.org/10.63946/cajn/17421
Chicago
Rakhimzhanova, Saltanat, Galiya Shaimardanova, Aigerim Smagulova, and Aidana Nalibek. "AA-Amyloidosis in an Adolescent with Familial Mediterranean Fever: A Case Report". Central Asian Journal of Nephrology 2025 1 no. 2 (2025): cajn008. https://doi.org/10.63946/cajn/17421
MLA
Rakhimzhanova, Saltanat et al. "AA-Amyloidosis in an Adolescent with Familial Mediterranean Fever: A Case Report". Central Asian Journal of Nephrology, vol. 1, no. 2, 2025, cajn008. https://doi.org/10.63946/cajn/17421

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