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2.
Pediatr Nephrol ; 38(7): 2209-2219, 2023 07.
Article En | MEDLINE | ID: mdl-36508051

BACKGROUND: Understanding disparities in pediatric kidney transplants is important to provide equitable care. We compared transplant outcomes between English-speaking (ES) and interpreter-needing (IN) pediatric kidney transplant recipients. METHODS: Through retrospective review, primary kidney transplant recipients, 0-21 years transplanted between 2005 and 2019, were divided into ES and IN cohorts. Continuous and categorical variables were compared using Wilcoxon rank-sum, Welch two-sample t-test, and chi-squared analyses. Patient survival, graft survival, and rejection-free survival were evaluated using Kaplan-Meier methods and Cox regression. Days hospitalized were evaluated using negative binomial regression. RESULTS: Our sample included 211 ES and 37 IN transplant recipients. Compared with the ES, the IN cohort was older at transplant (14.56 vs. 11.03 years; p < 0.01), had more time between kidney failure and transplant (0.9 vs. 0.3 years; p < 0.01), and more often received deceased over living donor transplants (78.4% vs. 30.4%; p < 0.01). Multivariate Cox proportional-hazard models evaluating adjusted 5-year patient survival demonstrated decreased 5-year post-transplant survival in the IN cohort (aHR = 10.10, 95% CI: 1.5, 66.8; p = 0.02). We did not identify differences in 5-year death-censored graft survival (aHR = 0.57; 95% CI: 0.14, 2.4; p = 0.4) nor rejection-free survival (aHR = 0.8; 95% CI: 0.4, 1.5; p = 0.5). We found significantly fewer hospitalization events in the IN cohort during the first year post-transplant (aRR: 0.62; 95% CI: 0.4, 0.9; p = 0.01) but no difference 5-year post-transplant. The IN cohort had more missed outpatient appointments (10.4% vs. 2.8%; p = 0.03) and undetectable serum immunosuppressant levels (mean: 3.8% vs. 1.3%; p = 0.02) 5 years post-transplant. CONCLUSIONS: Pediatric kidney transplant recipients requiring interpreter services for healthcare delivery demonstrate fewer post-transplant interactions with their healthcare team (fewer hospitalizations and more no-show visits) and lower 5-year patient survival compared with recipients not requiring interpreters. A higher resolution version of the Graphical abstract is available as Supplementary information.


Kidney Transplantation , Humans , Child , Kidney Transplantation/methods , Graft Rejection , Living Donors , Proportional Hazards Models , Graft Survival , Retrospective Studies , Communication Barriers , Treatment Outcome
3.
Am J Med Genet A ; 185(4): 1247-1250, 2021 04.
Article En | MEDLINE | ID: mdl-33443292

We report a patient with homocystinuria and hyperoxaluria who was cured of homocystinuria-related disease following liver transplant. The patient was diagnosed with homocystinuria as a newborn and was treated with dietary modifications and supplements. At 22 months, he passed a calcium oxalate stone and was found to have numerous bilateral kidney stones. Genetic testing confirmed primary hyperoxaluria, type 1. He underwent preemptive liver transplant at age four to treat primary hyperoxaluria. Following transplant, his serum methionine and homocysteine levels normalized, thus, demonstrating resolution of homocystinuria. Methionine and homocysteine levels remained normal 6 years later. Homocystinuria is associated with ophthalmologic, skeletal, neurologic, and thromboembolic complications. As cystathionine beta-synthase resides in the liver, transplant was hypothesized to be an effective treatment. Primary hyperoxaluria generally progresses to chronic kidney disease and is treated with combined kidney-liver transplant at the time of end stage kidney disease. Given this patient's dual diagnoses, we proceeded with preemptive liver transplantation. Three prior cases of patients with homocystinuria treated with liver transplantation have been reported. In all cases, transplant resolved metabolic effects. However, our case represents a pediatric patient without disease-related complications prior to transplant. This case supports liver-targeted gene therapies as an effective treatment for homocystinuria.


Cystathionine beta-Synthase/genetics , Homocystinuria/genetics , Homocystinuria/therapy , Liver Transplantation , Cystathionine beta-Synthase/deficiency , Female , Homocysteine/blood , Homocystinuria/blood , Homocystinuria/pathology , Humans , Infant , Infant, Newborn , Male , Methionine/blood , Neonatal Screening , Pediatrics
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