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Article: Mitochondrial diseases in Hong Kong: prevalence, clinical characteristics and genetic landscape

TitleMitochondrial diseases in Hong Kong: prevalence, clinical characteristics and genetic landscape
Authors
KeywordsHong Kong
Mitochondrial diseases
Prevalence
Issue Date2-Mar-2023
PublisherBioMed Central
Citation
Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1 How to Cite?
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.


Persistent Identifierhttp://hdl.handle.net/10722/329069
ISSN
2023 Impact Factor: 3.4
2023 SCImago Journal Rankings: 1.182
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorWong, TS-
dc.contributor.authorBelaramani, KM-
dc.contributor.authorChan, CK-
dc.contributor.authorChan, WK-
dc.contributor.authorChan, WLL-
dc.contributor.authorChang, SK-
dc.contributor.authorCheung, SN-
dc.contributor.authorCheung, KY-
dc.contributor.authorCheung, YF-
dc.contributor.authorChong, SCJ-
dc.contributor.authorChow, CKJ-
dc.contributor.authorChung, HYB-
dc.contributor.authorFan, SYF-
dc.contributor.authorFok, WMJ-
dc.contributor.authorFong, KW-
dc.contributor.authorFung, THS-
dc.contributor.authorHui, KF-
dc.contributor.authorHui, TH-
dc.contributor.authorHui, JN-
dc.contributor.authorKo, CH-
dc.contributor.authorKwan, MC-
dc.contributor.authorKwok, MKA-
dc.contributor.authorKwok, SSJ-
dc.contributor.authorLai, MS-
dc.contributor.authorLam, YO-
dc.contributor.authorLam, CW-
dc.contributor.authorLau, MC-
dc.contributor.authorLaw, CYE-
dc.contributor.authorLee, WC-
dc.contributor.authorLee, HCH-
dc.contributor.authorLee, CN-
dc.contributor.authorLeung, KH-
dc.contributor.authorLeung, KY-
dc.contributor.authorLi, SH-
dc.contributor.authorLing, TKJ-
dc.contributor.authorLiu, KTT-
dc.contributor.authorLo, FM-
dc.contributor.authorLui, HT-
dc.contributor.authorLuk, CO-
dc.contributor.authorLuk, HM-
dc.contributor.authorMa, CK-
dc.contributor.authorMa, KR-
dc.contributor.authorMa, KH-
dc.contributor.authorMew, YN-
dc.contributor.authorMo, AL-
dc.contributor.authorNg, SF-
dc.contributor.authorPoon, WKG-
dc.contributor.authorRodenburg, R-
dc.contributor.authorSheng, B-
dc.contributor.authorSmeitink, J-
dc.contributor.authorSzeto, CLC-
dc.contributor.authorTai, SM-
dc.contributor.authorTse, CTA-
dc.contributor.authorTsung, LL-
dc.contributor.authorWong, HMJ-
dc.contributor.authorWong, WYW-
dc.contributor.authorWong, KK-
dc.contributor.authorWong, SNS-
dc.contributor.authorWong, CNV-
dc.contributor.authorWong, WSS-
dc.contributor.authorWong, CKF-
dc.contributor.authorWu, SP-
dc.contributor.authorWu, HFJ-
dc.contributor.authorYau, MM-
dc.contributor.authorYau, KCE-
dc.contributor.authorYeung, WL-
dc.contributor.authorYeung, HMJ-
dc.contributor.authorYip, KKE-
dc.contributor.authorYoung, PHT-
dc.contributor.authorYuan, G-
dc.contributor.authorYuen, YPL-
dc.contributor.authorYuen, CL-
dc.contributor.authorFung, CW -
dc.date.accessioned2023-08-05T07:55:03Z-
dc.date.available2023-08-05T07:55:03Z-
dc.date.issued2023-03-02-
dc.identifier.citationOrphanet Journal of Rare Diseases, 2023, v. 18, n. 1-
dc.identifier.issn1750-1172-
dc.identifier.urihttp://hdl.handle.net/10722/329069-
dc.description.abstract<h3>Objective</h3><p>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.</p><h3>Methods</h3><p>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.</p><h3>Results</h3><p>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%.</p><h3>Conclusion</h3><p>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.</p>-
dc.languageeng-
dc.publisherBioMed Central-
dc.relation.ispartofOrphanet Journal of Rare Diseases-
dc.rightsThis work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.-
dc.subjectHong Kong-
dc.subjectMitochondrial diseases-
dc.subjectPrevalence-
dc.titleMitochondrial diseases in Hong Kong: prevalence, clinical characteristics and genetic landscape-
dc.typeArticle-
dc.identifier.doi10.1186/s13023-023-02632-6-
dc.identifier.scopuseid_2-s2.0-85149428067-
dc.identifier.volume18-
dc.identifier.issue1-
dc.identifier.eissn1750-1172-
dc.identifier.isiWOS:000941980100001-
dc.identifier.issnl1750-1172-

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