Yonsei Med J.  2012 Mar;53(2):454-458. 10.3349/ymj.2012.53.2.454.

The First Case of Familial Mediterranean Fever Associated with Renal Amyloidosis in Korea

  • 1Department of Clinical Genetics, Yonsei University College of Medicine, Seoul, Korea. jinsunglee@yuhs.ac
  • 2Department of Pediatrics, Yonsei University College of Medicine, Seoul, Korea.
  • 3Department of Pathology, Yonsei University College of Medicine, Seoul, Korea.


Familial Mediterranean fever (FMF) is an auto-inflammatory disease characterized by periodic episodes of fever and recurrent polyserositis. It is caused by a dysfunction of pyrin (or marenostrin) as a result of a mutation within the MEFV gene. It occurs mostly in individuals of Mediterranean origin; however, it has also been reported in non-Mediterranean populations. In this report, we describe the first case of FMF in a Korean child. As eight-year-old boy presented recurrent febrile attacks from an unknown cause, an acute scrotum and renal amyloidosis. He also showed splenomegaly, lymphadenopathy, pleural effusion, ascites and elevated acute phase reactants. After MEFV gene analysis, he was diagnosed as FMF combined with amyloidosis.


Familial Mediterranean fever; amyloidosis; marenostrin

MeSH Terms

Familial Mediterranean Fever/*diagnosis
Kidney Diseases/*diagnosis


  • Fig. 1 The mesangium is expanded by pinkish amorphous material (PAS, ×400) (A). This material shows apple green birefringence under the polarized microscopy after Congo red staining (×200) (B) and immunoreactivity to the amyloid A antibody (×200) (C). An electron microscopy reveals haphazardly arranged non-branching fibrils measuring 8-10 nm in diameter. (×50000) (D).

  • Fig. 2 Results of the DNA analysis of the MEFV gene.


1. Gedalia A. Kliegman RM, Behrman RE, Jenson HB, Stanton BF, editors. Hereditary periodic fever syndromes. Nelson textbook of Pediatrics. 2007. 18th ed. Philadelphia: W.B. Saunders Company;p. 1029–1031.
2. Katsenos S, Mermigkis C, Psathakis K, Tsintiris K, Polychronopoulos V, Panagou P, et al. Unilateral lymphocytic pleuritis as a manifestation of familial Mediterranean fever. Chest. 2008; 133:999–1001. PMID: 18398120.
3. Cekin AH, Dalbudak N, Künefeci G, Gür G, Boyacioğlu S. Familial Mediterranean fever with massive recurrent ascites: a case report. Turk J Gastroenterol. 2003; 14:276–279. PMID: 15048606.
4. Onen F. Familial Mediterranean fever. Rheumatol Int. 2006; 26:489–496. PMID: 16283319.
5. Konstantopoulos K, Kanta A, Tzoulianos M, Dimou S, Sotsiou F, Politou M, et al. Familial Mediterranean fever phenotype II in Greece. Isr Med Assoc J. 2001; 3:862–863. PMID: 11729588.
6. Araki H, Onogi F, Ibuka T, Moriwaki H. [A Japanese family with adult-onset familial Mediterranean fever and periodic episodes of high fever and abdominal pain]. Nihon Shokakibyo Gakkai Zasshi. 2010; 107:427–431. PMID: 20203446.
7. Dormer AE, Hale JF. Familial Mediterranean fever: a cause of periodic fever. Br Med J. 1962; 1:87–89. PMID: 13887384.
8. Yepiskoposyan L, Harutyunyan A. Population genetics of familial Mediterranean fever: a review. Eur J Hum Genet. 2007; 15:911–916. PMID: 17568393.
9. Baş F, Kabataş-Eryilmaz S, Günöz H, Darendeliler F, Küçükemre B, Bundak R, et al. Type 1 diabetes mellitus associated with autoimmune thyroid disease, celiac disease and familial Mediterranean fever: case report. Turk J Pediatr. 2009; 51:183–186. PMID: 19480334.
10. Matos TC, Terreri MT, Petry DG, Barbosa CM, Len CA, Hilário MO. Autoinflammatory syndromes: report on three cases. Sao Paulo Med J. 2009; 127:314–316. PMID: 20169282.
11. Keskin G, Inal A, Sengül A, Cindoruk M, Haznedaroğlu S, Duranay M, et al. Phagocytic activity in familial Mediterranean fever. Yonsei Med J. 2000; 41:441–444. PMID: 10992804.
12. Sugiura T, Kawaguchi Y, Fujikawa S, Hirano Y, Igarashi T, Kawamoto M, et al. Familial Mediterranean fever in three Japanese patients, and a comparison of the frequency of MEFV gene mutations in Japanese and Mediterranean populations. Mod Rheumatol. 2008; 18:57–59. PMID: 18097735.
13. Ryan JG, Masters SL, Booty MG, Habal N, Alexander JD, Barham BK, et al. Clinical features and functional significance of the P369S/R408Q variant in pyrin, the familial Mediterranean fever protein. Ann Rheum Dis. 2010; 69:1383–1388. PMID: 19934105.
14. Caglayan AO, Demiryilmaz F, Ozyazgan I, Gumus H. MEFV gene compound heterozygous mutations in familial Mediterranean fever phenotype: a retrospective clinical and molecular study. Nephrol Dial Transplant. 2010; 25:2520–2523. PMID: 19934083.
15. Bilginer Y, Akpolat T, Ozen S. Renal amyloidosis in children. Pediatr Nephrol. 2011; 26:1215–1227. PMID: 21360109.
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