HUSCAP logo Hokkaido Univ. logo

Hokkaido University Collection of Scholarly and Academic Papers >
Graduate School of Medicine / Faculty of Medicine >
Peer-reviewed Journal Articles, etc >

A histopathological report of a 16-year-old male with peripheral pulmonary artery stenosis and Moyamoya disease with a homozygous RNF213 mutation

This item is licensed under: Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International

Files in This Item:

The file(s) associated with this item can be obtained from the following URL:https://doi.org/10.1016/j.rmcr.2019.100977


Title: A histopathological report of a 16-year-old male with peripheral pulmonary artery stenosis and Moyamoya disease with a homozygous RNF213 mutation
Authors: Takahashi, Kei Browse this author
Nakamura, Junichi Browse this author
Sakiyama, Shinya Browse this author
Nakaya, Toshitaka Browse this author
Sato, Takahiro Browse this author
Watanabe, Taku Browse this author →KAKEN DB
Ohira, Hiroshi Browse this author →KAKEN DB
Makita, Keishi Browse this author
Tomaru, Utano Browse this author →KAKEN DB
Ishizu, Akihiro Browse this author →KAKEN DB
Tsujino, Ichizo Browse this author →KAKEN DB
Keywords: Ring finger protein 213
Homozygote
Peripheral pulmonary artery stenosis
Moyamoya disease
Pulmonary hypertension
Issue Date: 1-Jul-2020
Publisher: Elsevier
Journal Title: Respiratory Medicine Case Reports
Volume: 29
Start Page: 100977
Publisher DOI: 10.1016/j.rmcr.2019.100977
Abstract: Peripheral pulmonary artery stenosis (PPAS) is a rare pulmonary vasculopathy characterized by multiple stenoses and obstructions in the peripheral pulmonary arteries. PPAS often develops in children with congenital diseases such as Williams syndrome and Alagille syndrome; however, recent studies have reported PPAS cases in adults with Moyamoya disease (MMD). Recent genetic studies have demonstrated that ring finger protein 213 (RNF213) is a susceptibility gene for MMD. However, the pathophysiology of combined PPAS and MMD and the relationship between the two diseases remain largely unknown. Here we report a case of PPAS in a 16-year-old male, with a history of MMD, who died suddenly at 24. An autopsy was performed, and remarkable pathological changes were identified in the pulmonary arteries and in other arteries. Furthermore, genetic analysis revealed that the patient had a homozygous c.14576G > A (p.R4859K) mutation in RNF213. This is the first report to demonstrate the histopathology of systemic arteriopathy in a case with MMD and PPAS with a confirmed homozygous RNF213 mutation. We also review immunohistochemical data from the case and discuss how RNF213 mutation could have resulted in the observed vascular abnormalities.
Rights: https://creativecommons.org/licenses/by-nc-nd/4.0/
Type: article
URI: http://hdl.handle.net/2115/78763
Appears in Collections:医学院・医学研究院 (Graduate School of Medicine / Faculty of Medicine) > 雑誌発表論文等 (Peer-reviewed Journal Articles, etc)

Export metadata:

OAI-PMH ( junii2 , jpcoar )

MathJax is now OFF:


 

 - Hokkaido University