Mehmet ŞAHİN, Nurşen DÜZGÜN, Nejat AKAR, Arzu ENSARİ, Özden TULUNAY, Işınsu KUZU

Complete remission of nephrotic syndrome in secondary amyloidosis of familial Mediterranean fever following colchicine treatment

Ateş, artrit ve karın ağrısı atakları ile 18 yıldır ailevi Akdeniz ateşi hikayesi olan 25 yaşında Türk kadın hasta, 1999 yılında nefrotik sendrom kliniği ile hastanemize başvurdu. Renal ve intestinal mukozadan (rektum) yapılan biyopsilerde amiloid depolanması saptandı. Hastada homozigot M694V mutasyonu mevcut idi. Kolşisin tedavisi altında klinik belirtiler ve nefrotik düzeydeki proteinüri kayboldu. Literatürde benzer vakalar nadir olarak tarif edilmiştir. Bu hastada ailevi Akdeniz ateşin tanı ve tedavisinde 18 yıllık bir gecikme ve kolşisin tedavisi altında sekonder amiloidozise bağlı nefrotik sendromun kaybolarak iyi bir seyir göstermesi tartışıldı.

Ailevi Akdeniz ateşi ve sekonder amiloidosize bağlı nefrotik sendromun kolşisin tedavisi altında remisyonu

A 25-year-old woman of Turkish origin with an 18 year long history of familial Mediterranean fever (FMF) attacks characterized with fever, arthritis and abdominal pain developed symptoms of the nephrotic syndrome in 1999. The renal biopsy revealed small amounts of amyloid deposits. Intestinal mucosa (rectum) also showed amyloid infiltration. The patient was homozygous for M694V mutation. She has responded to colchicine with a resolution of clinical signs and nephrotic range proteinuria. Similar cases have been rarely described. In this case, an 18-year delayed diagnosis and treatment of FMF, reversible nephrotic stage of amyloidotic renal disease by colchicine and a favorable course were discussed .

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