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카우덴 증후군

Cowden Syndrome: A Review

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초록

카우덴 증후군은 PTEN 생식세포 돌연변이와 연관되어 상염색체 우성으로 유전되는 희귀한 유전 질환으로, 유병률은 1/200,000로 추정된다. 카우덴 증후군의 진단 기준은 변경되어 왔으며 몇 가지 질병 기준이 포함되었다. 본 종설에서는 카우덴 증후군 관련 질환에 대해 설명하였고 이는 환자가 유전 상담을 받을 때 이러한 희귀 한 질병을 검토함에 있어 도움이 될 것이다.

Abstract

Cowden syndrome is a rare autosomal dominant genetic disease, with an estimated prevalence of 1/200,000 with majority of PTEN germline mutation. Diagnostic criteria of Cowden syndrome have been changed and several disease criteria were included. Herein, we described Cowden syndrome related disease, and it would be helpful to review this rare disease when the patients come for genetic counseling.

참고문헌 (48)

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