Focal segmental glomerulosclerosis (FSGS) is a histological pattern of podocyte and glomerulus injury. FSGS can be primary and secondary to other diseases or due to a genetic cause. Strikingly, genetic causes for adult-onset FSGS are often overlooked, likely because identifying patients with genetic forms of FSGS based on clinical presentation and histopathology is difficult. Yet diagnosing genetic FSGS does not only have implications for prognostication and therapy but also for family and family planning. In this case series, we present 3 adult patients who presented with advanced renal disease with the histological picture of FSGS and proved to have a genetic cause of the disease, namely, variants in <i>INF2</i>, <i>COL4A4</i> and <i>HNF1B</i>, respectively. We show the possibilities of identifying genetic FSGS based on clinical clues of a positive family history, early age at onset of disease, and/or severe therapy-resistant disease. We discuss ways to select the method of genetic testing for individual patients. Finally, we examine how the judicious use of genetic investigations can obviate potential harmful diagnostic procedures and direct clinical decisions in patients and their relatives.
Background: Nondialytic conservative care has been recognized as a viable alternative to chronic dialysis in older patients with end-stage kidney disease, but little is known about its consequences on hospital utilization and costs. Methods: We performed a retrospective cohort study to compare outpatient and inpatient hospital utilization, place of death, and hospital costs in patients aged ≥70 years old who chose conservative care (n = 100) or dialysis (n = 162) after shared decision making in a nonacademic teaching hospital between 2008 and 2016. Results: Patients who chose conservative care were older than patients who chose dialysis (82.5 vs. 76.3 years). Comorbidity did not differ between the 2 patient groups. The incidence rates of outpatient visits per year were 7.1 in patients who chose conservative care and 10.7 in patients who chose dialysis (incidence rate ratio 0.67, 95% CI 0.55-0.81). The incidence rates of inhospital days per year were, respectively, 6.0 and 9.8 (incidence rate ratio 0.50, 95% CI 0.29-0.88). Also in the final month of life, patients on conservative care had less outpatient visits, were less frequently hospitalized, and died less frequently in hospital than the dialysis patient group. The cost rates per year, measured from original treatment decision, were EUR 5,859 in conservative care patients and EUR 28,354 in patients who chose dialysis comprising both the predialysis and dialysis period (cost rate ratio 0.42, 95% CI 0.27-0.65). Patients who chose dialysis had higher costs on dialysis sessions, outpatient care, inpatient care, laboratory tests, and medical imaging. Conclusions: Patients who decided to forego dialysis and chose conservative care had less outpatient and inpatient hospital utilization than patients who chose dialysis, including less intensive hospital utilization near the end of life. Both overall and nondialysis-related costs were lower in patients on a conservative care pathway.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
customersupport@researchsolutions.com
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
This site is protected by reCAPTCHA and the Google Privacy Policy and Terms of Service apply.
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.