Renal manifestations of tuberous sclerosis complex.
angiomyolipoma; autosomal polycystic kidney disease; renal cystic disease; tuberous sclerosis; Von Hippel–Lindau disease
Tuberous sclerosis complex (TSC) is a genetic condition caused by a mutation in either the TSC1 or TSC2 gene. Disruption of either of these genes leads to impaired production of hamartin or tuberin proteins, leading to the manifestation of skin lesions, tumors, and seizures. TSC can manifest in multiple organ systems with the cutaneous and renal systems being the most commonly affected. These manifestations can secondarily lead to the development of hypertension, chronic kidney disease, and neurocognitive declines. The renal pathologies most commonly seen in TSC are angiomyolipoma, renal cysts, and less commonly, oncocytomas. In this review, we highlight the current understanding on the renal manifestations of TSC along with current diagnosis and treatment guidelines. (Copyright: Nair N et al.)
Nair N;Chakraborty R;Mahajan Z;Sharma A;Sethi SK;Raina R
Journal Of Kidney Cancer And VHL
2020
2020-08-27
Article information provided for research and reference use only. All rights are retained by the journal listed under publisher and/or the creator(s).
journalArticle
<a href="http://doi.org/10.15586/jkcvhl.2020.131" target="_blank" rel="noreferrer noopener">10.15586/jkcvhl.2020.131</a>
Hypertensive crisis in pediatric patients: An overview.
management; acute severe hypertension; hypertensive crisis; hypertensive emergency; hypertensive urgency
Hypertensive crisis can be a source of morbidity and mortality in the pediatric population. While the epidemiology has been difficult to pinpoint, it is well-known that secondary causes of pediatric hypertension contribute to a greater incidence of hypertensive crisis in pediatrics. Hypertensive crisis may manifest with non-specific symptoms as well as distinct and acute symptoms in the presence of end-organ damage. Hypertensive emergency, the form of hypertensive crisis with end-organ damage, may present with more severe symptoms and lead to permanent organ damage. Thus, it is crucial to evaluate any pediatric patient suspected of hypertensive emergency with a thorough workup while acutely treating the elevated blood pressure in a gradual manner. Management of hypertensive crisis is chosen based on the presence of end-organ damage and can range from fast-acting intravenous medication to oral medication for less severe cases. Treatment of such demands a careful balance between decreasing blood pressure in a gradual manner while preventing damage end-organ damage. In special situations, protocols have been established for treatment of hypertensive crisis, such as in the presence of endocrinologic neoplasms, monogenic causes of hypertension, renal diseases, and cardiac disease. With the advent of telehealth, clinicians are further able to extend their reach of care to emergency settings and aid emergency medical service (EMS) providers in real time. In addition, further updates on the evolving topic of hypertension in the pediatric population and novel drug development continues to improve outcomes and efficiency in diagnosis and management of hypertension and consequent hypertensive crisis.
Raina R;Mahajan Z;Sharma A;Chakraborty R;Mahajan S;Sethi SK;Kapur G;Kaelber D
Frontiers in Pediatrics
2020
1905-07
journalArticle
<a href="http://doi.org/10.3389/fped.2020.588911" target="_blank" rel="noreferrer noopener">10.3389/fped.2020.588911</a>