Current research status of Peutz-Jeghers syndrome in children

TONG Qin; ZHAO Hong-Mei

doi:10.7499/j.issn.1008-8830.2404054

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Chinese Journal of Contemporary Pediatrics ›› 2024, Vol. 26 ›› Issue (10) : 1122-1126. DOI: 10.7499/j.issn.1008-8830.2404054

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Current research status of Peutz-Jeghers syndrome in children

TONG Qin, ZHAO Hong-Mei

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Abstract

Peutz-Jeghers syndrome (PJS) is an autosomal dominant genetic disorder characterized by mucocutaneous pigmentation and multiple hamartomatous polyps, which leads to an increased susceptibility to tumors. The clinical incidence is rare, and the only currently identified pathogenic gene is the serine/threonine kinase 11/liver kinase B1 (STK11/LKB1) located on the short arm of chromosome 19 (19p13.3). This condition can lead to various complications, such as gastrointestinal bleeding, intussusception, intestinal obstruction, and malignancy. In childhood, the greatest risk is associated with intussusception, which increases the risk of surgical intervention and significantly impacts the growth, development, and quality of life of the children. This article provides an overview of the current research status regarding the clinical characteristics, etiology, pathogenesis, diagnosis, and treatment of PJS in children.

Key words

Peutz-Jeghers syndrome / Gastrointestinal polyp / Child

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TONG Qin, ZHAO Hong-Mei. Current research status of Peutz-Jeghers syndrome in children[J]. Chinese Journal of Contemporary Pediatrics. 2024, 26(10): 1122-1126 https://doi.org/10.7499/j.issn.1008-8830.2404054

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