Orphanet Journal of Rare Diseases (Mar 2023)
Mitochondrial diseases in Hong Kong: prevalence, clinical characteristics and genetic landscape
- Tsz-sum Wong,
- Kiran M. Belaramani,
- Chun-kong Chan,
- Wing-ki Chan,
- Wai-lun Larry Chan,
- Shek-kwan Chang,
- Sing-ngai Cheung,
- Ka-yin Cheung,
- Yuk-fai Cheung,
- Shuk-ching Josephine Chong,
- Chi-kwan Jasmine Chow,
- Hon-yin Brian Chung,
- Sin-ying Florence Fan,
- Wai-ming Joshua Fok,
- Ka-wing Fong,
- Tsui-hang Sharon Fung,
- Kwok-fai Hui,
- Ting-hin Hui,
- Joannie Hui,
- Chun-hung Ko,
- Min-chung Kwan,
- Mei-kwan Anne Kwok,
- Sung-shing Jeffrey Kwok,
- Moon-sing Lai,
- Yau-on Lam,
- Ching-wan Lam,
- Ming-chung Lau,
- Chun-yiu Eric Law,
- Wing-cheong Lee,
- Han-chih Hencher Lee,
- Chin-nam Lee,
- Kin-hang Leung,
- Kit-yan Leung,
- Siu-hung Li,
- Tsz-ki Jacky Ling,
- Kam-tim Timothy Liu,
- Fai-man Lo,
- Hiu-tung Lui,
- Ching-on Luk,
- Ho-ming Luk,
- Che-kwan Ma,
- Karen Ma,
- Kam-hung Ma,
- Yuen-ni Mew,
- Alex Mo,
- Sui-fun Ng,
- Wing-kit Grace Poon,
- Richard Rodenburg,
- Bun Sheng,
- Jan Smeitink,
- Cheuk-ling Charing Szeto,
- Shuk-mui Tai,
- Choi-ting Alan Tse,
- Li-yan Lilian Tsung,
- Ho-ming June Wong,
- Wing-yin Winnie Wong,
- Kwok-kui Wong,
- Suet-na Sheila Wong,
- Chun-nei Virginia Wong,
- Wai-shan Sammy Wong,
- Chi-kin Felix Wong,
- Shun-ping Wu,
- Hiu-fung Jerome Wu,
- Man-mut Yau,
- Kin-cheong Eric Yau,
- Wai-lan Yeung,
- Hon-ming Jonas Yeung,
- Kin-keung Edwin Yip,
- Pui-hong Terence Young,
- Gao Yuan,
- Yuet-ping Liz Yuen,
- Chi-lap Yuen,
- Cheuk-wing Fung
Affiliations
- Tsz-sum Wong
- Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital
- Kiran M. Belaramani
- Department of Paediatrics and Adolescent Medicine, Hong Kong Children’s Hospital
- Chun-kong Chan
- Department of Medicine and Geriatrics, United Christian Hospital
- Wing-ki Chan
- Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital
- Wai-lun Larry Chan
- Department of Medicine, Alice Ho Miu Ling Nethersole Hospital
- Shek-kwan Chang
- Department of Medicine, Queen Mary Hospital
- Sing-ngai Cheung
- Department of Medicine and Geriatrics, Kwong Wah Hospital
- Ka-yin Cheung
- Department of Medicine and Geriatrics, United Christian Hospital
- Yuk-fai Cheung
- Department of Medicine, Queen Elizabeth Hospital
- Shuk-ching Josephine Chong
- Department of Paediatrics, Prince of Wales Hospital, The Chinese University of Hong Kong
- Chi-kwan Jasmine Chow
- Department of Paediatrics and Adolescent Medicine, Queen Elizabeth Hospital
- Hon-yin Brian Chung
- Department of Paediatrics & Adolescent Medicine, School of Clinical Medicine, LKS Faculty of Medicine, The University of Hong Kong
- Sin-ying Florence Fan
- Department of Medicine and Therapeutics, Prince of Wales Hospital
- Wai-ming Joshua Fok
- Department of Medicine, Yan Chai Hospital
- Ka-wing Fong
- Department of Medicine, Queen Elizabeth Hospital
- Tsui-hang Sharon Fung
- Department of Paediatrics and Adolescent Medicine, Kwong Wah Hospital
- Kwok-fai Hui
- Department of Medicine and Geriatrics, United Christian Hospital
- Ting-hin Hui
- Department of Medicine and Geriatrics, United Christian Hospital
- Joannie Hui
- Department of Paediatrics and Adolescent Medicine, Hong Kong Children’s Hospital
- Chun-hung Ko
- Department of Paediatrics and Adolescent Medicine, Caritas Medical Centre
- Min-chung Kwan
- Department of Medicine and Geriatrics, Kwong Wah Hospital
- Mei-kwan Anne Kwok
- Department of Paediatrics and Adolescent Medicine, Hong Kong Children’s Hospital
- Sung-shing Jeffrey Kwok
- Department of Chemical Pathology, Prince of Wales Hospital
- Moon-sing Lai
- Department of Medicine, North District Hospital
- Yau-on Lam
- Department of Medicine and Geriatrics, United Christian Hospital
- Ching-wan Lam
- Department of Pathology, The University of Hong Kong
- Ming-chung Lau
- Department of Paediatrics and Adolescent Medicine, United Christian Hospital
- Chun-yiu Eric Law
- Department of Chemical Pathology, Queen Mary Hospital
- Wing-cheong Lee
- Department of Paediatrics and Adolescent Medicine, Pamela Youde Nethersole Eastern Hospital
- Han-chih Hencher Lee
- Department of Chemical Pathology, Princess Margaret Hospital
- Chin-nam Lee
- Department of Medicine, Pamela Youde Nethersole Eastern Hospital
- Kin-hang Leung
- Department of Medicine, Queen Elizabeth Hospital
- Kit-yan Leung
- Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital
- Siu-hung Li
- Department of Medicine, North District Hospital
- Tsz-ki Jacky Ling
- Department of Chemical Pathology, Queen Mary Hospital
- Kam-tim Timothy Liu
- Department of Paediatrics and Adolescent Medicine, Pamela Youde Nethersole Eastern Hospital
- Fai-man Lo
- Department of Health, Clinical Genetic Service
- Hiu-tung Lui
- Department of Medicine, Tseung Kwan O Hospital
- Ching-on Luk
- Department of Medicine, Queen Elizabeth Hospital
- Ho-ming Luk
- Clinical Genetics Service Unit, Hong Kong Children’s Hospital
- Che-kwan Ma
- Department of Paediatrics and Adolescent Medicine, United Christian Hospital
- Karen Ma
- Department of Medicine and Therapeutics, Prince of Wales Hospital
- Kam-hung Ma
- Department of Paediatrics and Adolescent Medicine, Alice Ho Miu Ling Nethersole hospital
- Yuen-ni Mew
- Department of Medicine and Geriatrics, United Christian Hospital
- Alex Mo
- Department of Paediatrics and Adolescent Medicine, Kwong Wah Hospital
- Sui-fun Ng
- Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital
- Wing-kit Grace Poon
- Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital
- Richard Rodenburg
- Department of Paediatrics, Radboud Centre for Mitochondrial Medicine, Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen Medicine Centre
- Bun Sheng
- Department of Medicine and Geriatrics, Princess Margaret Hospital
- Jan Smeitink
- Department of Paediatrics, Radboud Centre for Mitochondrial Medicine, Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen Medicine Centre
- Cheuk-ling Charing Szeto
- Department of Medicine and Geriatrics, United Christian Hospital
- Shuk-mui Tai
- Department of Paediatrics and Adolescent Medicine, Pamela Youde Nethersole Eastern Hospital
- Choi-ting Alan Tse
- Department of Medicine, Yan Chai Hospital
- Li-yan Lilian Tsung
- Department of Paediatrics and Adolescent Medicine, Pamela Youde Nethersole Eastern Hospital
- Ho-ming June Wong
- Department of Medicine and Geriatrics, Caritas Medical Centre
- Wing-yin Winnie Wong
- Department of Medicine and Geriatrics, Caritas Medical Centre
- Kwok-kui Wong
- Department of Medicine, Yan Chai Hospital
- Suet-na Sheila Wong
- Department of Paediatrics and Adolescent Medicine, Hong Kong Children’s Hospital
- Chun-nei Virginia Wong
- Department of Paediatrics & Adolescent Medicine, School of Clinical Medicine, LKS Faculty of Medicine, The University of Hong Kong
- Wai-shan Sammy Wong
- Department of Pathology, Queen Elizabeth Hospital
- Chi-kin Felix Wong
- Department of Chemical Pathology, Queen Mary Hospital
- Shun-ping Wu
- Department of Paediatrics and Adolescent Medicine, Queen Elizabeth Hospital
- Hiu-fung Jerome Wu
- Department of Medicine and Geriatrics, Princess Margaret Hospital
- Man-mut Yau
- Department of Paediatrics and Adolescent Medicine, Tseung Kwan O Hospital
- Kin-cheong Eric Yau
- Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital
- Wai-lan Yeung
- Department of Paediatrics and Adolescent Medicine, Hong Kong Children’s Hospital
- Hon-ming Jonas Yeung
- Department of Medicine, Alice Ho Miu Ling Nethersole Hospital
- Kin-keung Edwin Yip
- Department of Medicine and Geriatrics, Ruttonjee and Tang Shiu Kin Hospitals
- Pui-hong Terence Young
- Department of Medicine and Geriatrics, Ruttonjee and Tang Shiu Kin Hospitals
- Gao Yuan
- Department of Medicine, Queen Mary Hospital
- Yuet-ping Liz Yuen
- Department of Chemical Pathology, Hong Kong Children’s Hospital
- Chi-lap Yuen
- Department of Medicine and Geriatrics, Tuen Mun Hospital
- Cheuk-wing Fung
- Department of Paediatrics and Adolescent Medicine, Hong Kong Children’s Hospital
- DOI
- https://doi.org/10.1186/s13023-023-02632-6
- Journal volume & issue
-
Vol. 18,
no. 1
pp. 1 – 11
Abstract
Abstract Objective To determine the prevalence of mitochondrial diseases (MD) in Hong Kong (HK) and to evaluate the clinical characteristics and genetic landscape of MD patients in the region. Methods This study retrospectively reviewed the phenotypic and molecular characteristics of MD patients from participating public hospitals in HK between January 1985 to October 2020. Molecularly and/or enzymatically confirmed MD cases of any age were recruited via the Clinical Analysis and Reporting System (CDARS) using relevant keywords and/or International Classification of Disease (ICD) codes under the HK Hospital Authority or through the personal recollection of treating clinicians among the investigators. Results A total of 119 MD patients were recruited and analyzed in the study. The point prevalence of MD in HK was 1.02 in 100,000 people (95% confidence interval 0.81–1.28 in 100,000). 110 patients had molecularly proven MD and the other nine were diagnosed by OXPHOS enzymology analysis or mitochondrial DNA depletion analysis with unknown molecular basis. Pathogenic variants in the mitochondrial genome (72 patients) were more prevalent than those in the nuclear genome (38 patients) in our cohort. The most commonly involved organ system at disease onset was the neurological system, in which developmental delay, seizures or epilepsy, and stroke-like episodes were the most frequently reported presentations. The mortality rate in our cohort was 37%. Conclusion This study is a territory-wide overview of the clinical and genetic characteristics of MD patients in a Chinese population, providing the first available prevalence rate of MD in Hong Kong. The findings of this study aim to facilitate future in-depth evaluation of MD and lay the foundation to establish a local MD registry.
Keywords