Combined liver–kidney transplant for the management of methylmalonic aciduria: A case report and review of the literature
Autor: | Melissa P. Wasserstein, Claude Sansaricq, Kimiyo Raymond, Elizabeth Lim-Melia, George A. Diaz, Alexandra E. Larkin, Peter J. Mc Guire |
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Jazyk: | angličtina |
Rok vydání: | 2007 |
Předmět: |
Male
medicine.medical_specialty Pancreatic disease Endocrinology Diabetes and Metabolism medicine.medical_treatment Interstitial nephritis Developmental Disabilities Methylmalonic acid Liver transplantation Biochemistry Gastroenterology Article Lipid Metabolism Inborn Errors Liver disease chemistry.chemical_compound Endocrinology Internal medicine Genetics medicine Humans Intensive care medicine Molecular Biology Amino Acid Metabolism Inborn Errors Kidney transplantation business.industry Immunosuppression medicine.disease Kidney Transplantation Liver Transplantation chemistry Methylmalonic aciduria Child Preschool business Methylmalonic Acid |
Popis: | Over 27 cases of liver transplant, kidney transplant and combined liver–kidney transplant have been reported for the treatment of methylmalonic aciduria. We describe a case of a 5-year-old boy who underwent combined liver–kidney transplant (CLKT) for phenotypic mut0 disease. His history was notable for more than 30 hospitalizations for severe acidosis, metabolic strokes, liver disease, pancreatic disease, chronic renal insufficiency with interstitial nephritis, and decreased quality of life. Post-CLKT, there was a marked reduction in serum (80%) and urine MMA levels (90%) as well as a cessation of metabolic decompensations. Neurologic deterioration continued post-CKLT manifested as a cerebellar stroke. The clinical details and therapeutic implications of solid organ transplant for methylmalonic aciduria are discussed. |
Databáze: | OpenAIRE |
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