Background: The challenges in diagnosis of rare renal conditions can negatively impact patient prognosis, quality\nof life and result in significant healthcare costs. Differential methylation is emerging as an important biomarker for\nrare diseases and should be evaluated for rare renal conditions.\nMethods: A comprehensive systematic review of methylation and rare renal disorders was conducted by searching\nthe electronic databases MEDLINE, EMBASE, PubMed, Cochrane Library, alongside grey literature from GreyLit and\nOpenGrey databases, for publications published before September 2018. Additionally, the reference lists of the\nincluded papers were searched. Data was extracted and appraised including the primary focus, measurement and\nmethodological rigour of the source. Eligibility criteria were adapted using the inclusion criteria from â??The 100,000\nGenomes Projectâ?? and The National Registry of Rare Kidney Diseases, with additional focus on methylation.\nResults: Thirteen full text articles were included in the review. Diseases analysed for differential methylation\nincluded glomerular disease, IgA nephropathy, ADPKD, rare causes of proteinuria, congenital renal agenesis, and\nmembranous nephropathy.\nConclusions: Differential methylation has been observed for several rare renal diseases, highlighting its potential\nfor improving molecular characterisation of these disorders. Further investigation of methylation following a\nstandardised reporting structure is necessary to improve research quality. Multi-omic data will provide insights for\nimproved diagnosis, prognosis and support for individuals living and working with rare renal diseases.
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