Centre for Public Health, Queen's University Belfast, c/o Regional Genetics Centre, Level A, Tower Block, Belfast City Hospital, Lisburn Road, BT9 7AB, Belfast, Northern Ireland.
100,000 Genomes Project Team, Belfast Health and Social Care Trust, Belfast, Northern Ireland.
BMC Nephrol. 2019 Aug 16;20(1):320. doi: 10.1186/s12882-019-1517-5.
The challenges in diagnosis of rare renal conditions can negatively impact patient prognosis, quality of life and result in significant healthcare costs. Differential methylation is emerging as an important biomarker for rare diseases and should be evaluated for rare renal conditions.
A comprehensive systematic review of methylation and rare renal disorders was conducted by searching the electronic databases MEDLINE, EMBASE, PubMed, Cochrane Library, alongside grey literature from GreyLit and OpenGrey databases, for publications published before September 2018. Additionally, the reference lists of the included papers were searched. Data was extracted and appraised including the primary focus, measurement and methodological rigour of the source. Eligibility criteria were adapted using the inclusion criteria from 'The 100,000 Genomes Project' and The National Registry of Rare Kidney Diseases, with additional focus on methylation.
Thirteen full text articles were included in the review. Diseases analysed for differential methylation included glomerular disease, IgA nephropathy, ADPKD, rare causes of proteinuria, congenital renal agenesis, and membranous nephropathy.
Differential methylation has been observed for several rare renal diseases, highlighting its potential for improving molecular characterisation of these disorders. Further investigation of methylation following a standardised reporting structure is necessary to improve research quality. Multi-omic data will provide insights for improved diagnosis, prognosis and support for individuals living and working with rare renal diseases.
罕见肾脏疾病诊断中的挑战可能会对患者的预后、生活质量产生负面影响，并导致高昂的医疗费用。差异甲基化作为一种罕见疾病的重要生物标志物，应该针对罕见肾脏疾病进行评估。
通过检索电子数据库 MEDLINE、EMBASE、PubMed、Cochrane 图书馆以及 GreyLit 和 OpenGrey 数据库中的灰色文献，对甲基化和罕见肾脏疾病进行了全面的系统综述，检索时间截至 2018 年 9 月之前的出版物。此外，还对纳入文献的参考文献进行了检索。提取并评估数据，包括来源的主要焦点、测量和方法严谨性。使用“10 万基因组计划”和国家罕见肾脏疾病登记处的纳入标准来调整纳入标准，并额外关注甲基化。
综述共纳入 13 篇全文文章。分析差异甲基化的疾病包括肾小球疾病、IgA 肾病、常染色体显性多囊肾病、罕见蛋白尿原因、先天性肾发育不全和膜性肾病。
已经观察到几种罕见肾脏疾病存在差异甲基化，这凸显了其改善这些疾病分子特征的潜力。需要进一步研究标准化报告结构下的甲基化，以提高研究质量。多组学数据将为改善诊断、预后以及为罕见肾脏疾病患者提供支持提供深入了解。
