The Role of Liver Transplantation in Propionic Acidemia

Quintero, Jesús; Molera, Cristina; Juampérez, Javier; Redecillas, S.; Meavilla, Silvia; Núñez, Raquel; García, Camila; Toro, Mireia del; García, Ainhoa; Ortega, Juan José López; Segarra, Óscar; Carpi, Javier Martín de; Bilbao, Itxarone; Charco, Ramón

doi:10.1002/lt.25344

Cited by 23 publications

(39 citation statements)

References 25 publications

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“…8 In yet another European series, 2/6 patients developed kidney dysfunction after receiving a liver transplant when their diet was liberalized. 9 These clinical observations suggest that CKD is an under-recognized disease-related complication in PA, especially in adults.…”

Section: Introductionmentioning

confidence: 97%

Chronic kidney disease in propionic acidemia

Shchelochkov

Manoli

Sloan

et al. 2019

Genetics in Medicine

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Purpose-Propionic acidemia (PA) is a severe metabolic disorder characterized by multiorgan pathology, including renal disease. The prevalence of chronic kidney disease (CKD) in PA patients and factors associated with CKD in PA are not known. Methods-Thirty-one subjects diagnosed with PA underwent laboratory and clinical evaluations through a dedicated natural history study at the NIH (ClinicalTrials.gov identifier: NCT02890342). Results-Cross-sectional analysis of the creatinine-based estimated glomerular filtration rate (eGFR) in subjects with native kidneys revealed an age-dependent decline in renal function (P <0.002). Among adults with PA, 4/8 (50%) had eGFR <60 mL/min/1.73 m 2. There was a significant discrepancy between eGFRs calculated using estimating equations based on serum creatinine compared to serum cystatin C (P <0.0001). The tubular injury marker, plasma lipocalin-2, and plasma uric acid were strongly associated with CKD (P <0.0001). The measured 24-hour creatinine excretion was below normal, even after adjusting for age, height, and sex. Conclusions-CKD is common in adults with PA and is associated with age. The poor predictive performance of standard eGFR estimating equations, likely due to reduced creatine synthesis in kidney and liver, could delay the recognition of CKD and management of ensuing complications in this population. Users may view, print, copy, and download text and data-mine the content in such documents, for the purposes of academic research, subject always to the full Conditions of use:

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Section: Introductionmentioning

confidence: 97%

Chronic kidney disease in propionic acidemia

Shchelochkov

Manoli

Sloan

et al. 2019

Genetics in Medicine

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“…Since 1992, 49 patients (56 grafts) with PA and LT have been reported (Table ) . The median age at transplant was 3 years with a median follow‐up of 2.5 years (range, 0.01‐21 years).…”

Section: Discussionmentioning

confidence: 99%

Liver Transplantation in Children With Propionic Acidemia: Medium‐Term Outcomes

et al. 2020

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Liver transplantation (LT) for patients with propionic acidemia (PA) is an emerging therapeutic option. We present a retrospective review of patients with PA who underwent LT at a tertiary liver center between 1995 and 2015. A total of 14 children were identified (8 males) with median age at initial presentation of 3 days (range, 0‐77 days). Pretransplant median protein restriction was 1 g/kg/day (range, 0.63‐1.75 g/kg/day), 71% required supportive feeding, and 86% had developmental delay. Frequent metabolic decompensations (MDs) were the main indication for LT with a median age at transplantation of 2.4 years (range, 0.8‐7.1 years). Only 1 graft was from a living donor, and 13 were from deceased donors (4 auxiliary). The 2‐year patient survival was 86%, and overall study and graft survival was 79% and 69%, respectively. Three patients died after LT: at 43 days (biliary peritonitis), 225 days (acute‐on‐chronic rejection with multiorgan failure), and 13.5 years (posttransplant lymphoproliferative disease). Plasma glycine and propionylcarnitine remained elevated but reduced after transplant. Of 11 survivors, 5 had at least 1 episode of acute cellular rejection, 2 sustained a metabolic stroke (with full recovery), and 3 developed mild cardiomyopathy after LT. All have liberalized protein intake, and 9 had no further MDs: median episodes before transplant, 4 (range, 1‐30); and median episodes after transplant, 0 (range, 0‐5). All survivors made some developmental progress after LT, and none worsened at a median follow‐up of 5.8 years (range, 2‐23 years). LT in PA significantly reduces the frequency of MDs, can liberalize protein intake and improve quality of life, and should continue to be considered in selected cases.

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“…[37] 2 LT/KT 15.5 (10)(11)(12)(13)(14)(15)(16)(17)(18)(19)(20)(21) No decompensations Mental status changes (n = 1) Tremors (n = 1)…”

Section: Patient Demographics and Follow-upmentioning

confidence: 99%

Post-transplantation Outcomes in Patients with PA or MMA: A Review of the Literature

2020

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Introduction: Liver transplantation is recognised as a treatment option for patients with propionic acidemia (PA) and those with methylmalonic acidemia (MMA) without renal impairment. In patients with MMA and moderate-to-severe renal impairment, combined liver-kidney transplantation is indicated. However, clinical experience of these transplantation options in patients with PA and MMA remains limited and fragmented. We undertook an overview of post-transplantation outcomes in patients with PA and MMA using the current available evidence. Methods: A literature search identified publications on the use of transplantation in patients with PA and MMA. Publications were considered if they presented adequate demographic and outcome data from patients with PA or risk of perioperative complications on an individual basis.

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The Role of Liver Transplantation in Propionic Acidemia

Cited by 23 publications

References 25 publications

Chronic kidney disease in propionic acidemia

Chronic kidney disease in propionic acidemia

Liver Transplantation in Children With Propionic Acidemia: Medium‐Term Outcomes

Post-transplantation Outcomes in Patients with PA or MMA: A Review of the Literature

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