Diffuse and multifocal nephrogenic adenoma with Familial Mediterranean Fever: a case report with molecular study
- PDF / 2,735,769 Bytes
- 7 Pages / 595.276 x 793.701 pts Page_size
- 41 Downloads / 187 Views
CASE REPORT
Open Access
Diffuse and multifocal nephrogenic adenoma with Familial Mediterranean Fever: a case report with molecular study Noriyoshi Ishikawa1*, Chika Amano2, Takeshi Taketani3, Koji Kumori4, Yuji Harada5, Hisayuki Hiraiwa6, Kayoko Itamura6 and Riruke Maruyama1,5
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. Keywords: Urinary tract, Nephrogenic adenoma, Familial Mediterranean fever, MEFV gene mutation
Background Nephrogenic adenoma is a benign tumor-like lesion of the urinary tract, characterized by a papillary and tubular proliferation of cuboidal cells similar to the epithelial cells of distal renal tubules. It occurs anywhere in the urinary tract, but it is most frequently found in the bladder [1]. It was first described in 1949 by Davis [2], and originally thought to arise from a remnant of mesonephric tissue or metaplasia of the urothelium in response to chronic irritation and mucosal damage. Currently, it is known that exfoliated and implanted renal tubular cells into the urinary tract mucosa form the disease [3]. The most common histological pattern is a proliferation of small tubules composed of a single layer of cuboidal epithelium. These tubules are often surrounded by a hyalinized basement membrane and contain blue mucin in * Correspondence: [email protected] 1 Department of Pathology (Organ Pathology Unit), 89-1 Enya, Izumo, Shimane 693-8501, Japan Full list of author information is available at the end of the article
the lumens. It may also grow in papillary, cystic or solid pattern. Hobnail cells may be seen in papillary growth areas. In cystic pattern, colloid-like eosinophilic secretion or blue-tinged mucin is frequently observed [1]. Occasionally, clear cells or signet-ring cells can be seen in solid area, which could b
Data Loading...
