Clinical and Experimental Pediatrics

대한소아청소년과학회 (The Korean Pediatric Society)
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Neurofibromatosis type I: points to be considered by general pediatricians

  • Kang, Eungu (Department of Pediatrics, Korea University Ansan Hospital, Korea University College of Medicine) ;
  • Yoon, Hee Mang (Department of Radiology, Asan Medical Center, University of Ulsan College of Medicine) ;
  • Lee, Beom Hee (Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine)
  • 투고 : 2020.05.11
  • 심사 : 2020.06.23
  • 발행 : 2021.04.15
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초록

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.

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과제정보

This research was supported in part by the Bio & Medical Technology Development Program of the National Research Foundation (NRF) funded by the Korean government (NRF-2018M3A9H1078335).

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피인용 문헌

  1. Improving the lives of children with neurofibromatosis type 1 vol.64, pp.4, 2021, https://doi.org/10.3345/cep.2020.01277