title: Dimethylarginines as biomarkers for the kidney transplant management in methylmalonic aciduria.
abstract: Methylmalonic aciduria (MMA) is an inborn error of metabolism associated with many complications despite treatment. Chronic renal failure is the most common problem, and patients may eventually require kidney transplant. Therefore, it is worth investigating whether living donor kidney transplant offers a better option than deceased kidney donors; and the value of novel vascular risk biomarkers in the assessment of transplanted MMA patients. We report a case of a 26-year-old man with MMA, who progressed to end-stage renal disease and received kidney transplant from a heterozygous next-of-kin living donor at 20 years of age. Although post-transplant urinary levels of methylmalonic acid decreased, this reduction was lower than previously reported for deceased donors. No episodes of metabolic decompensation were observed after transplantation. During his clinical progress, vascular complications appeared; and finally, pancreatitis was the cause of death. After kidney transplant, we evaluated novel vascular risk factors, such as asymmetric dimethylarginine (ADMA) and symmetric dimethylarginine (SDMA), which were used as early biomarkers of progression and metabolic management for this transplanted patient. This case report illustrates the disadvantage of transplantation with an allograft from a heterozygous living donor, and the utility of vascular risk biomarkers in renal transplant assessment.
authors.affiliation: Unit of Metabolism, BioCruces Health Research Institute, CIBER de Enfermedades Raras (CIBERER), Barakaldo, Spain.
authors.forename: Luis
authors.initials: L
authors.lastname: Aldámiz-Echevarria
authors.affiliation: Unit of Metabolism, BioCruces Health Research Institute, CIBER de Enfermedades Raras (CIBERER), Barakaldo, Spain.
authors.forename: Fernando
authors.initials: F
authors.lastname: Andrade
authors.affiliation: Unit of Metabolism, BioCruces Health Research Institute, CIBER de Enfermedades Raras (CIBERER), Barakaldo, Spain.
authors.forename: Marta
authors.initials: M
authors.lastname: Llarena
authors.affiliation: Unit of Metabolism, BioCruces Health Research Institute, CIBER de Enfermedades Raras (CIBERER), Barakaldo, Spain.
authors.forename: Javier
authors.initials: J
authors.lastname: de Las Heras
authors.affiliation: Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Neonatology Service, Department of Pediatrics, Hospital Clínico Universitario de Santiago de Compostela, CIBER de Enfermedades Raras (CIBERER), IDIS, Spain.
authors.forename: María Luz
authors.initials: ML
authors.lastname: Couce
mesh_terms: D000328:Adult; D064591:Allografts; D000592:Amino Acid Metabolism, Inborn Errors / Q000097:blood / Q000150:complications* / Q000175:diagnosis; D001120:Arginine / Q000031:analogs & derivatives* / Q000097:blood; D015415:Biomarkers / Q000097:blood; D002423:Cause of Death; D018450:Disease Progression; D017809:Fatal Outcome; D006801:Humans; D007166:Immunosuppressive Agents / Q000627:therapeutic use; D007676:Kidney Failure, Chronic / Q000175:diagnosis / Q000209:etiology / Q000601:surgery*; D016030:Kidney Transplantation / Q000009:adverse effects* / Q000379:methods; D019520:Living Donors; D008297:Male; D010195:Pancreatitis / Q000175:diagnosis / Q000209:etiology*; D011237:Predictive Value of Tests; D012307:Risk Factors; D013997:Time Factors; D016896:Treatment Outcome
chemical_list: D015415:Biomarkers; D007166:Immunosuppressive Agents; C024917:symmetric dimethylarginine; C018524:N,N-dimethylarginine; D001120:Arginine
keywords: asymmetric dimethylarginine; biomarkers; kidney transplant; methylmalonic aciduria; vascular risk