Chinese Journal of Gastroenterology 2014;(8):492-495

doi:10.3969/j.issn.1008-7125.2014.08.011

Advances in Study on Pathogenesis and Treatment of Peutz-Jeghers Syndrome

Xuyan MAO ; Shoubin NING

Keywords

Peutz-Jeghers Syndrome; Root Cause Analysis; Diagnosis; Therapy

Country

China

Language

Chinese

Abstract

Peutz-Jeghers syndrome ( PJS ) is a rare autosomal dominant inherited disease characterized by mucocutaneous pigmentation and multiple gastrointestinal polyposis. Recent studies suggested that mutation in STK11 gene on chromosome 19p13. 3 was considered as the major cause of PJS. In this paper,we summarized the clinical features, pathogenesis,diagnosis and treatment of PJS through literature review.