Case of periodic disease with recurrent interstitial lung disease
A V Shestakova , S N Volkova , G V Shestakova , M L Gorbunova , I V D’yachkova , E V Radovskaya
Kazan medical journal ›› 2017, Vol. 98 ›› Issue (5) : 840 -845.
Case of periodic disease with recurrent interstitial lung disease
Periodic disease or Familial Mediterranean fever is an inherited monogenic disease widespread among the ancient peoples of the countries of Mediterranean region: Armenians, Jews, Turks, Arabs. MEFV gene (Familian Mediterranean Fever Gene) located on chromosome 16 in the region 16р13.3, is responsible for the development of the disease. MEFV gene encodes marenostrin protein (Pirin) involved in the regulation of inflammatory processes. Typical manifestations of the disease are recurrent fever, peritonitis, synovitis, pleuritis, and rarely pericarditis, meningitis, erysipeloid skin lesions, development of amyloidosis, mainly kidneys, is also characteristic. In the described clinical case the disease has manifested as recurrent interstitial lung disease and morphea-like skin lesion. Over 5 years the lung pathology was considered as cryptogenic organizing pneumonia, so the patient was administered corticosteroids (with no effect). In 2013, molecular genetic study detected mutations V726A and A744S in compaud-heterozygous state, the diagnosis of periodic disease was confirmed. Receiving colchicine for over 3.5 years induced remission of the disease: there were no episodes of febrile fever and exacerbations of pneumonia, radiologic regression of lung lesions and elimination of morphea-like skin lesion was observed. Clinical symptoms of periodic disease in this case are rarely encountered.
periodic disease / familial Mediterranean fever / interstitial lung disease / inherited diseases
Shestakova A.V., Volkova S.N., Shestakova G.V., Gorbunova M.L., D’yachkova I.V., Radovskaya E.V.
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