Lowe氏症候群兒童之牙科治療：病例報告

Dental Treatment of a Child with Lowe Syndrome: A Case Report

吳佩蓁(Pei-Chen Wu) ； 洪千喬(Chien-Chia Hung)

《臺灣兒童牙醫學雜誌》 15卷4期 (2015/12) Pp. 144-148

https://doi.org/10.6319/TJPD.2015.15(4).3

摘要

Lowe氏症候群為一種罕見遺傳疾病，致病原因為OCRL1 基因缺陷。臨床特徵主要是眼睛、中樞神經和腎臟方面的異常。此篇文章為一位六歲Lowe氏症候群的男性病患，因為全口齲齒問題至本院求診、接受牙科治療的病例報告與討論。

關鍵字

Lowe氏症候群 ； OCRL基因 ； 兒童

並列摘要

Lowe syndrome is a rare multiple congenital anomaly syndrome. It is caused by markedly reduced activity of an inositol polyphosphate 5-phosphatase OCRL-1, which is encoded by OCRL. Lowe syndrome (oculocerebrorenal syndrome) is characterized by involvement of the eyes, central nervous system, and kidneys. This article describes the dental management and case discussion of a 6-year-old boy with Lowe syndrome.

並列關鍵字

Lowe syndrome ； OCRL gene ； child