• 認識香港罕見疾病聯盟

    Number: 機構介紹系列(一)

    Publication date: 2020/06/01

    Content description: Established in December 2014, Rare Disease Hong Kong (RDHK), formerly known as the Hong Kong Alliance for Rare Diseases, is a charitable institution recognized by the government (ref. no.: 91/16233). It is first patients’ group in Hong Kong comprising cross-rare-disease patients and their families with the support of experts and academics in the field.

    Topics across this leaflet: (1) What is a rare disease, (2) Definition of Rare Diseases, (3) Characteristics of Rare Diseases, (4) Challenges Encountered by Patients with Rare Disease and their Caregivers.

  • 家族性澱粉樣多發性神經病變

    Number: 認識罕見遺傳疾病系列(一)

    Publication date: 2018/12/15

    Content description: FAP(Familial Amyloid Polyneuropathy,澱粉樣多發性神經病變)是一種罕見的家族染色體顯性遺傳疾病,因為某些蛋白的基因突變,導致其結構出現變化,使得這些原本為水溶性的蛋白形成澱粉纖維在細胞外沉積而致病。

    FAP患者因為不正常澱粉樣蛋白(amyloid)堆積,引起多發性神經病變。澱粉樣蛋白堆積在不同器官與組織中,如血管、心臟、消化系統、周邊神經系統(如神經幹、神經叢、感覺運動神經、自律神經等),導致不同病變,統稱為澱粉樣蛋白疾病(amyloidosis)。