Mitochondrial neurogastrointestinal encephalomyopathy: Clinical and biochemical impact of allogeneic stem cell transplantation in a Greek patient with one novel
Autor: | A. Paisiou, M. Rogalidou, R. Pons, E. Ioannidou, K. Dimakou, A. Papadopoulou, F.M. Vaz, G. Vessalas, S.M.I. Goorden, J. Roelofsen, A. Zoetekouw, M.M. Nieman, E. Dimitriou, M. Moraitou, I. Peristeri, H. Michelakakis, A.B.P. van Kuilenburg |
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Rok vydání: | 2021 |
Předmět: |
Medicine (General)
QH301-705.5 dThd thymidine HSCT hematopoietic stem cell transplantation Endocrinology R5-920 CSF cerebrospinal fluid Genetics AHSCT allogeneic hematopoietic stem cell transplantation Biology (General) Molecular Biology dUrd 2′-deoxyuridine MNGIE mitochondrial neurogastrointestinal encephalomyopathy PB peripheral blood TP thymidine phosphorylase TPN total parenteral nutrition TYMP thymidine phosphorylase gene VLCFA very long chain fatty acids Mutation analysis mtDNA mitochondrial DNA GVHD Graft Versus Host Disease OLT orthotopic liver transplantation MNGIE Allogeneic hematopoietic stem cell transplantation AHSCT Mitochondrial neurogastrointestinal encephalomyopathy PLT platelet Research Paper |
Zdroj: | Molecular Genetics and Metabolism Reports Molecular Genetics and Metabolism Reports, Vol 30, Iss, Pp 100829-(2022) |
ISSN: | 2214-4269 |
Popis: | We describe the case of a Greek female patient with the Classic form of the ultra- rare and fatal autosomal recessive disorder Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) and the impact of allogeneic hematopoietic stem cell transplantation on the biochemical and clinical aspects of the disease. The patient presented at the age of 15 years with severe gastrointestinal symptoms, cachexia, peripheral neuropathy and diffuse leukoencephalopathy. The diagnosis of MNGIE disease was established by the increased levels of thymidine and deoxyuridine in plasma and the complete deficiency of thymidine phosphorylase activity. The novel c.[978dup] (p.Ala327Argfs*?) variant and the previously described variant c.[417 + 1G > A] were identified in TYMP. The donor for the allogeneic hematopoietic stem cell transplantation was her fully compatible sister, a carrier of the disease. The patient had a completely uneventful post- transplant period and satisfactory PB chimerism levels. A marked and rapid decrease in thymidine and deoxyuridine plasma levels and an increase of the thymidine phosphorylase activity to the levels measured in her donor sister was observed and is still present sixteen months post-transplant. Disease symptoms stabilized and some improvement was also observed both in her neurological and gastrointestinal symptoms. Follow up studies will be essential for determining the long term impact of allogeneic hematopoietic stem cell transplantation in our patient. |
Databáze: | OpenAIRE |
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