Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0005940 (bone disease)
 7,459 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Recent advances in genetics of renal disease have deepened our understanding of progressive kidney disease. Here, we review genetic variants that are of particular importance to progressive glomerular disease that result in end-stage kidney disease (ESKD). Some of the most striking findings relate to APOL1 genetic variants, seen exclusively in individuals of sub-Saharan African descent, that create a predisposition to particular renal disorders, including focal segmental glomerulosclerosis and arterionephrosclerosis. We also review the genetics of cardiovascular disease in ESKD and note that little work has been published on the genetics of other ESKD complications, including anemia, bone disease, and infections. Deeper understanding of the genetics of ESKD and its complications may lead to new therapies that are tailored to an individual patient's genetic profile or are discovered based on genetic approaches that identify novel pathways of renal cell injury and repair.
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PMID:Genetics, Genomics, and Precision Medicine in End-Stage Kidney Disease. 3008 52

The 2019 International Society of Nephrology World Kidney Day theme is Kidney Health for Everyone Everywhere. It focuses on the uneven burden of acute kidney injury and chronic kidney disease (CKD) in different communities, identifies disparities and challenges in access to care and calls for universal health coverage for prevention and early treatment of kidney disease. This topic is fully in line with the Clinical Kidney Journal (ckj) editorial strategy for improving worldwide kidney care without leaving any community behind. Indeed, the first PubMed-recorded use of the term CKD hotspot was in ckj, where it was defined as 'countries, region[s], communities or ethnicities with higher than average incidence of CKD'. This issue of ckj contains the World Kidney Day editorial as well as contributions that illustrate two concepts: the need to validate biochemical thresholds generated in developed countries in other populations, as exemplified by Kidney Disease: Improving Global Outcomes CKD-mineral and bone disorder parameters in an African population, and the fact that some disease associations characteristic of developing countries may be described initially in developed countries, as exemplified by the association of APOL1 variants with CKD or by minimal change disease secondary to malaria, but have to be validated locally.
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PMID:Burden, access and disparities in kidney disease: chronic kidney disease hotspots and progress one step at a time. 3097 90