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Neurofibromatosis type I: points to be considered by general pediatricians

Clinical and Experimental Pediatrics 2021년 64권 4호 p.149 ~ 156
강은구, 윤희망, 이범희,
소속 상세정보
강은구 ( Kang Eun-Gu ) - Korea University College of Medicine Korea University Ansan Hospital Department of Pediatrics
윤희망 ( Yoon Hee-Mang ) - University of Ulsan College of Medicine Asan Medical Center Department of Radiology
이범희 ( Lee Beom-Hee ) - University of Ulsan College of Medicine Asan Medical Center Department of Pediatrics

Abstract


Neurofibromatosis type 1 (NF1), a prevalent genetic disease that is transmitted in an autosomal dominant manner, is characterized by multiple cutaneous cafe-au-lait spots and neurofibromas as well as various degrees of neurological, skeletal, and neoplastic manifestations. The clinical features of NF1 increase in frequency with age, while the clinical diagnosis can remain undetermined in some pediatric patients. Importantly, affected patients are at risk for developing tumors of the central and peripheral nervous system. Therefore, adequate counseling for genetic testing, age-appropriate surveillance, and management are important. This review suggests several issues that should be considered to help general pediatricians provide adequate clinical care and genetic counseling to patients with NF1 and their families.

키워드

Neurofibromatosis type 1; NF1; Diagnosis; Surveillance; Treatment

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