Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited condition associated with ventricular tachycardia (VT) triggered by exercise or sympathetic stress. Incessant VT may develop due to defibrillator-induced storming-a condition where implantable cardioverter-defibrillator discharges result in a hyperadrenergic state, provoking further VT and defibrillator discharge. We describe the case of a 14-year-old boy with CPVT caused by a calsequestrin-2 mutation, who presented with defibrillator-induced storming refractory to β-blockers, calcium-channel blockers, amiodarone, and dronedarone. Flecainide and β-blocker use suppressed incessant VT and defibrillator-induced storming.
Purpose of Review
To provide a comprehensive update on the role of genetic testing for the evaluation of kidney transplant recipient and living donor candidates.
Recent Findings
The evaluation of candidates for living donor transplantation and their potential donors occurs within an ever-changing landscape impacted by new evidence and risk assessment techniques. Criteria that were once considered contraindications to living kidney donation are now viewed as standard of care, while new tools identify novel risk markers that were unrecognized in past decades. Recent work suggests that nearly 10% of a cohort of patients with chronic/end-stage kidney disease had an identifiable genetic etiology, many whose original cause of renal disease was either unknown or misdiagnosed. Some also had an incidentally found genetic variant, unrelated to their nephropathy, but medically actionable. These patterns illustrate the substantial potential for genetic testing to better guide the selection of living donors and recipients, but guidance on the proper application and interpretation of novel technologies is in its infancy. In this review, we examine the utility of genetic testing in various kidney conditions, and discuss risks and unresolved challenges. Suggested algorithms in the context of related and unrelated donation are offered.
Summary
Genetic testing is a rapidly evolving strategy for the evaluation of candidates for living donor transplantation and their potential donors that has potential to improve risk assessment and optimize the safety of donation.
The novel coronavirus disease 2019 (COVID-19) pandemic has significantly impacted kidney transplantation worldwide. The rate of kidney transplantation decreased during the peak of the COVID-19 pandemic, especially living donor kidney transplantation. Kidney transplant recipients are at high risk of developing severe complications from COVID-19 due to underlying comorbidities and immunosuppressed status. Management of immunosuppression, including the induction therapy and maintenance immunosuppressive regimen, has been modified at many transplant centers during the pandemic. In severe acute respiratory virus syndrome coronavirus 2 (SARS-CoV-2) infected kidney transplant recipients, the immunosuppression is usually reduced. The acute rejection treatment is usually individualized based on the risks and benefits. Several COVID-19 therapies have received emergency use authorization to prevent the progression of COVID-19 severity. Use of oral antiviral therapies is faced with challenges in terms of drug-drug interaction, drug efficacy, and lack of data in the transplant population. For COVID-19 prophylaxis in kidney transplant recipients, the effectiveness of COVID-19 vaccines is lower compared to the general population. Pre-exposure prophylaxis with a long-acting antibody combination may be an adjunct strategy for vaccination in kidney transplant recipients or those for whom COVID-19 vaccination is not contraindicated. Post-exposure prophylaxis remains to be studied. Further studies are necessary to establish standard guidelines of immunosuppressive management in kidney transplant recipients diagnosed with COVID-19 and to better understand the outcomes and adverse drug reactions of the therapeutic and prophylactic modalities including vaccination in this high-risk population.
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