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낭종성 폐병변으로 내원하여 진단된 Birt-Hogg-Dube 증후군 2예
서명숙 ( Myeong Sook Seo ),임두호 ( Doo Ho Lim ),송준선 ( Joon Seon Song ),박찬식 ( Chan Sik Park ),채은진 ( Eun Jin Chae ),송진우 ( Jin Woo Song ) 대한내과학회 2014 대한내과학회지 Vol.87 No.4
Birt-Hogg-Dube (BHD) syndrome is a rare autosomal-dominant disease caused by germline folliculin (FLCN) mutations, characterized by fibrofolliculoma or trichodiscoma, renal tumors, and multiple lung cysts with or without spontaneous pneumothorax. Here, we report two cases of BHD syndrome that presented with bilateral pulmonary cysts. One patient was a 39-year-old woman who had a history of pneumothorax, multiple papules on her cheeks, and a family history of the same skin lesions and renal cell carcinoma in her father. BHD syndrome was confirmed by molecular tests that revealed a missense mutation in FLCN gene (exon 4, c.31T > C). The other patient was a 56-year-old man who showed FCLN gene polymorphism and typical radiopathological features of multiple cysts in the lung, but apparently no other manifestation. (Korean J Med 2014;87:477-483)
헬리코박터 제균 치료 후 완전 관해된 방광의 원발성 점막연관 림프조직 림프종
이선표 ( Sun Pyo Lee ),주명수 ( Myung Soo Choo ),류민희 ( Min Hee Ryu ),송민정 ( Min Jeong Song ),서세영 ( Se Young Seo ),정유문 ( Yu Mun Jeong ),서명숙 ( Myeong Sook Seo ),허주영 ( Joo Ryung Huh ) 대한내과학회 2014 대한내과학회지 Vol.87 No.2
Primary lymphoma of the urinary bladder is rare, comprising 0.2% of extranodal lymphomas. The predominant subtype of mucosa-associated lymphoid tissue (MALT) is extranodal marginal zone lymphoma. We report a case of MALT lymphoma of the urinary bladder in a 53-year-old female patient presenting with a five-year history of persistent hematuria and urinary frequency. A cystoscopy revealed multiple nodular lesions at the posterior wall and trigone of the bladder. The tissue obtained by cold-cup biopsy revealed lymphoid infiltration consistent with low-grade MALT lymphoma. Image studies revealed that the tumor originated from the urinary bladder and there was no evidence of metastases. The patient was positive for a rapid urease test. Because of the relationship between gastric MALT lymphoma and Helicobacter pylori, the patient was treated with antibiotics to eradicate Helicobacter pylori. The lymphoma subsequently disappeared and the patient has remained in persistent complete remission for eight years. (Korean J Med 2014;87:229-233)