Diffuse and multifocal nephrogenic adenoma with Familial Mediterranean Fever: A case report with molecular study

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Abstract

Nephrogenic adenoma, also referred to nephrogenic metaplasia, is a benign proliferative lesion of urothelium, usually associated with chronic physical stimuli or inflammation. Familial Mediterranean fever is an inherited autosomal recessive disease characterized by recurrent short episodes of fever. The site of mutation is found in MEFV gene which controls inflammatory responses. We have experienced a case of nephrogenic adenoma in a 16-year-old girl with Familial Mediterranean Fever, showing proliferative lesions diffusely in the urinary bladder and multifocally in the other parts of urinary tract. These lesions disappeared after colchicine treatment. We searched for MEFV gene mutation using the specimen from the resected urinary bladder and detected heterozygous mutation of E148Q. There is a possibility that control of inflammation caused by the surgery for vesicoureteral reflux in the local site didn't work well on the background of heterozygous mutation of MEFV gene, and as a result, nephrogenic adenoma appeared. This is the first report of a combination of two rare diseases. We have to be aware that nephrogenic adenoma can occur in association with Familial Mediterranean Fever, and the former condition should be taken into consideration when rendering a correct pathological diagnosis.

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Ishikawa, N., Amano, C., Taketani, T., Kumori, K., Harada, Y., Hiraiwa, H., … Maruyama, R. (2015). Diffuse and multifocal nephrogenic adenoma with Familial Mediterranean Fever: A case report with molecular study. Diagnostic Pathology, 10(1). https://doi.org/10.1186/s13000-015-0344-7

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