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Combined Liver and Kidney Transplant in Acute Intermittent Porphyria: A Case Report

Patient: Male, 19-year-old Final Diagnosis: Acute intermittent porphyria Symptoms: Abdominal pain • dark color urine • weakness Medication: — Clinical Procedure: Kidney transplantation • liver transplantation Specialty: Gastroenterology and Hepatology • Hematology • Nephrology • Surgery • Transplant...

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Autores principales: de Sousa Arantes Ferreira, Gustavo, de Oliveira, Livia Claudio, de Sousa Ulisses, Luiz Roberto, Watanabe, Andre Luis Conde, Medeiros, Isabela Novais, Cardoso, Helen Souto Siqueira, Alves, Inara Creão da Costa, de Almeida, Tiago Martins, de Lima, Laura Viana, Fontoura, Renata Pereira, Silva, Eduardo Resende Sousa e, de Araújo, Pollyana Lopes
Formato: Online Artículo Texto
Lenguaje:English
Publicado: International Scientific Literature, Inc. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7681258/
https://www.ncbi.nlm.nih.gov/pubmed/33203827
http://dx.doi.org/10.12659/AJCR.927832
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author de Sousa Arantes Ferreira, Gustavo
de Oliveira, Livia Claudio
de Sousa Ulisses, Luiz Roberto
Watanabe, Andre Luis Conde
Medeiros, Isabela Novais
Cardoso, Helen Souto Siqueira
Alves, Inara Creão da Costa
de Almeida, Tiago Martins
de Lima, Laura Viana
Fontoura, Renata Pereira
Silva, Eduardo Resende Sousa e
de Araújo, Pollyana Lopes
author_facet de Sousa Arantes Ferreira, Gustavo
de Oliveira, Livia Claudio
de Sousa Ulisses, Luiz Roberto
Watanabe, Andre Luis Conde
Medeiros, Isabela Novais
Cardoso, Helen Souto Siqueira
Alves, Inara Creão da Costa
de Almeida, Tiago Martins
de Lima, Laura Viana
Fontoura, Renata Pereira
Silva, Eduardo Resende Sousa e
de Araújo, Pollyana Lopes
author_sort de Sousa Arantes Ferreira, Gustavo
collection PubMed
description Patient: Male, 19-year-old Final Diagnosis: Acute intermittent porphyria Symptoms: Abdominal pain • dark color urine • weakness Medication: — Clinical Procedure: Kidney transplantation • liver transplantation Specialty: Gastroenterology and Hepatology • Hematology • Nephrology • Surgery • Transplantology OBJECTIVE: Rare disease BACKGROUND: Acute intermittent porphyria is an inherited disease caused by a defect in heme biosynthesis, with accumulation of neurotoxic metabolites leading to acute neurovisceral symptoms. Some patients develop long-term neurological and renal damage after the acute episodes, many of them requiring hemodialysis. Since heme production in the human body occurs predominantly in the bone marrow and liver, liver transplantation has been shown to significantly reduce the production of neurotoxic metabolites, effectively controlling the disease. Patients with severe acute intermittent porphyria who have chronic kidney failure may benefit from combined kidney and liver transplant. Only 2 uses of this approach have been previously reported in the literature. CASE REPORT: We report here the case of a 19-year-old male patient who received a combined liver and kidney transplant for the treatment of acute intermittent porphyria. He presented the first symptoms of the disease 4 years before the procedure, with abdominal pain and significant neurological impairment, with weakness requiring prolonged mechanical ventilation. He also had chronic kidney failure secondary to the porphyria. A combined liver and kidney transplant was performed, with no intraoperative complications. The explanted liver showed light siderosis, as well as portal and perisinusoidal fibrosis at microscopy. At 3.5 years of follow-up, he remains clinically well, with normal hepatic and renal function, had had no further acute porphyria episodes, and shows progressive neurological recovery. CONCLUSIONS: This case demonstrates that combined liver and kidney transplant can be a curative treatment for patients with severe acute intermittent porphyria associated with end-stage renal failure. The patient shows satisfactory long-term function of both grafts, with no clinical or biochemical signs of porphyria recurrence.
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spelling pubmed-76812582021-01-07 Combined Liver and Kidney Transplant in Acute Intermittent Porphyria: A Case Report de Sousa Arantes Ferreira, Gustavo de Oliveira, Livia Claudio de Sousa Ulisses, Luiz Roberto Watanabe, Andre Luis Conde Medeiros, Isabela Novais Cardoso, Helen Souto Siqueira Alves, Inara Creão da Costa de Almeida, Tiago Martins de Lima, Laura Viana Fontoura, Renata Pereira Silva, Eduardo Resende Sousa e de Araújo, Pollyana Lopes Am J Case Rep Articles Patient: Male, 19-year-old Final Diagnosis: Acute intermittent porphyria Symptoms: Abdominal pain • dark color urine • weakness Medication: — Clinical Procedure: Kidney transplantation • liver transplantation Specialty: Gastroenterology and Hepatology • Hematology • Nephrology • Surgery • Transplantology OBJECTIVE: Rare disease BACKGROUND: Acute intermittent porphyria is an inherited disease caused by a defect in heme biosynthesis, with accumulation of neurotoxic metabolites leading to acute neurovisceral symptoms. Some patients develop long-term neurological and renal damage after the acute episodes, many of them requiring hemodialysis. Since heme production in the human body occurs predominantly in the bone marrow and liver, liver transplantation has been shown to significantly reduce the production of neurotoxic metabolites, effectively controlling the disease. Patients with severe acute intermittent porphyria who have chronic kidney failure may benefit from combined kidney and liver transplant. Only 2 uses of this approach have been previously reported in the literature. CASE REPORT: We report here the case of a 19-year-old male patient who received a combined liver and kidney transplant for the treatment of acute intermittent porphyria. He presented the first symptoms of the disease 4 years before the procedure, with abdominal pain and significant neurological impairment, with weakness requiring prolonged mechanical ventilation. He also had chronic kidney failure secondary to the porphyria. A combined liver and kidney transplant was performed, with no intraoperative complications. The explanted liver showed light siderosis, as well as portal and perisinusoidal fibrosis at microscopy. At 3.5 years of follow-up, he remains clinically well, with normal hepatic and renal function, had had no further acute porphyria episodes, and shows progressive neurological recovery. CONCLUSIONS: This case demonstrates that combined liver and kidney transplant can be a curative treatment for patients with severe acute intermittent porphyria associated with end-stage renal failure. The patient shows satisfactory long-term function of both grafts, with no clinical or biochemical signs of porphyria recurrence. International Scientific Literature, Inc. 2020-11-18 /pmc/articles/PMC7681258/ /pubmed/33203827 http://dx.doi.org/10.12659/AJCR.927832 Text en © Am J Case Rep, 2020 This work is licensed under Creative Common Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0 (https://creativecommons.org/licenses/by-nc-nd/4.0/) )
spellingShingle Articles
de Sousa Arantes Ferreira, Gustavo
de Oliveira, Livia Claudio
de Sousa Ulisses, Luiz Roberto
Watanabe, Andre Luis Conde
Medeiros, Isabela Novais
Cardoso, Helen Souto Siqueira
Alves, Inara Creão da Costa
de Almeida, Tiago Martins
de Lima, Laura Viana
Fontoura, Renata Pereira
Silva, Eduardo Resende Sousa e
de Araújo, Pollyana Lopes
Combined Liver and Kidney Transplant in Acute Intermittent Porphyria: A Case Report
title Combined Liver and Kidney Transplant in Acute Intermittent Porphyria: A Case Report
title_full Combined Liver and Kidney Transplant in Acute Intermittent Porphyria: A Case Report
title_fullStr Combined Liver and Kidney Transplant in Acute Intermittent Porphyria: A Case Report
title_full_unstemmed Combined Liver and Kidney Transplant in Acute Intermittent Porphyria: A Case Report
title_short Combined Liver and Kidney Transplant in Acute Intermittent Porphyria: A Case Report
title_sort combined liver and kidney transplant in acute intermittent porphyria: a case report
topic Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7681258/
https://www.ncbi.nlm.nih.gov/pubmed/33203827
http://dx.doi.org/10.12659/AJCR.927832
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