- 著者
- Peipei Song Jiangjiang He Fen Li Chunlin Jin
- 出版者
- バイオ&ソーシャル・サイエンス推進国際研究交流会
- 雑誌
- Intractable & Rare Diseases Research (ISSN:21863644)
- 巻号頁・発行日
- pp.2017.01003, (Released:2017-02-17)
- 参考文献数
- 25
- 被引用文献数
- 18
China is facing the great challenge of treating the world's largest rare disease population, an estimated 16 million patients with rare diseases. One effort offering promise has been a pilot national project that was launched in 2013 and that focused on 20 representative rare diseases. Another government-supported special research program on rare diseases – the "Rare Diseases Clinical Cohort Study" – was launched in December 2016. According to the plan for this research project, the unified National Rare Diseases Registry System of China will be established as of 2020, and a large-scale cohort study will be conducted from 2016 to 2020. The project plans to develop 109 technical standards, to establish and improve 2 national databases of rare diseases – a multi-center clinical database and a biological sample library, and to conduct studies on more than 50,000 registered cases of 50 different rare diseases. More importantly, this study will be combined with the concept of precision medicine. Chinese population-specific basic information on rare diseases, clinical information, and genomic information will be integrated to create a comprehensive predictive model with a follow-up database system and a model to evaluate prognosis. This will provide the evidence for accurate classification, diagnosis, treatment, and estimation of prognosis for rare diseases in China. Numerous challenges including data standardization, protecting patient privacy, big data processing, and interpretation of genetic information still need to be overcome, but research prospects offer great promise.
- 著者
- Barbara Marconi Ivan Bobyr Anna Campanati Elisa Molinelli Veronica Consales Valerio Brisigotti Marina Scarpelli Stefano Racchini Annamaria Offidani
- 出版者
- バイオ&ソーシャル・サイエンス推進国際研究交流会
- 雑誌
- Intractable & Rare Diseases Research (ISSN:21863644)
- 巻号頁・発行日
- pp.2015.01014, (Released:2015-07-06)
- 参考文献数
- 94
- 被引用文献数
- 3 72
Pseudoxantoma elasticum (PXE), also known as Groenblad-Strandberg syndrome, is a rare heritable disease with an estimated prevalence of 1:50,000 in the general population. PXE is considered a prototype of multisystem ectopic mineralization disorders and it is characterized by aberrant mineralization of soft connective tissue with degeneration of the elastic fibers, involving primarily the eyes, the cardiovascular system, and the skin. Cutaneous lesions consist of small, asymptomatic, yellowish papules or larger coalescent plaques, typically located on the neck and the flexural areas. PXE is caused by mutations in the ABCC6 (ATP-binding cassette subfamily C member 6) gene that encodes a transmembrane ATP binding efflux transporter, normally expressed in the liver and the kidney; however, the exact mechanism of ectopic mineralization remains largely unknown. The histological examination of cutaneous lesions, revealing accumulation of pleomorphic elastic structures in middermis, is essential for the definitive diagnosis of PXE, excluding PXE-like conditions. PXE is currently an intractable disease; although the cutaneous findings primarily present a cosmetic problem, they signify the risk for development of ocular and cardiovascular complications associated with considerable morbidity and mortality. The purpose of this review is to present a comprehensive overview of this rare form of hereditary connective tissue disorders, focus on the pathogenesis, the clinical manifestation, and the differential diagnosis of PXE. Emphasis is also placed on the management of cutaneous lesions and treatment perspectives of PXE.
- 著者
- Xianlong Shi Yanqin Lu Yanzhou Wang Yu-ang Zhang Yuanwei Teng Wanshui Han Zhenzhong Han Tianyou Li Mei Chen Junlong Liu Fengling Fang Conghui Dou Xiuzhi Ren Jinxiang Han
- 出版者
- バイオ&ソーシャル・サイエンス推進国際研究交流会
- 雑誌
- Intractable & Rare Diseases Research (ISSN:21863644)
- 巻号頁・発行日
- vol.4, no.1, pp.49-53, 2015-01-31 (Released:2015-02-05)
- 参考文献数
- 23
- 被引用文献数
- 8
Osteogenesis imperfecta (OI) is an inheritable connective tissue disorder with a broad clinical heterozygosis, which can be complicated by other connective tissue disorders like Ehlers-Danlos syndrome (EDS). OI/EDS are rarely documented. Most OI/EDS mutations are located in the N-anchor region of type I procollagen and predominated by glycine substitution. We identified a c.3521C>T (p.A1174V) heterozygous mutation in COL1A1 gene in a four-generation pedigree with proposed mild OI/EDS phenotype. The affected individuals had blue sclera and dentinogenesis imperfecta (DI) was uniformly absent. The OI phenotype varied from mild to moderate, with the absence of scoliosis and increased skin extensibility. Easy bruising, joint dislocations and high Beighton score were present in some affected individuals. EDS phenotype is either mild or unremarkable in some individuals. The mutation is poorly conserved and in silico prediction support the relatively mild phenotype. The molecular mechanisms of the mutation that leads to the possible OI/EDS phenotype should be further identified by biochemical analysis of N-propeptide processing and steady state collagen analysis.