Clinical medicine (London, England)
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Inherited metabolic disorders (IMDs) are debilitating inherited diseases, with phenotypic, biochemical and genetic heterogeneity, frequently leading to prolonged diagnostic odysseys. Mitochondrial disorders represent one of the most severe classes of IMDs, wherein defects in >350 genes lead to multi-system disease. Diagnostic rates have improved considerably following the adoption of next-generation sequencing (NGS) technologies, but are still far from perfect. ⋯ To test whether phenomic correlations have utility in mitochondrial disease and IMDs, we created a gene-to-phenotype interaction network with searchable elements, for Leigh syndrome, a frequently observed paediatric mitochondrial disorder. The Leigh Map comprises data on 92 genes and 275 phenotypes standardised in human phenotype ontology terms, with 80% predictive accuracy. This commentary highlights the usefulness of the Leigh Map and similar resources and the challenges associated with integrating phenomic technologies into clinical practice.
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Patients with advanced chronic kidney disease (CKD), including end-stage renal disease (ESRD), have a life-threatening illness complicated by high morbidity and mortality and, therefore, should be suitable candidates for early intervention by palliative care specialists. However, the average patient with CKD does not have an advanced care plan, has multiple debilitating symptoms, and does not utilise hospice care at the end of life. In this review, we outline the scope of the problem of unmet palliative care needs for patients with advanced CKD and ESRD, barriers to improving palliative care for patients with renal failure, and possible future directions for palliative nephrology.