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Diacylglycerol kinase epsilon nephropathy: late diagnosis and therapeutic implications

A 17-year-old male presented thrombotic microangiopathy (TMA) at 6 months of age with arterial hypertension, anemia, thrombocytopenia and kidney injury improving with plasma infusions. Fourteen years later, he was diagnosed with severe arterial hypertension, increase in serum creatinine and chronic...

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Autores principales: de Holanda, Maria Izabel, Gomes, Caio Perez, Araujo, Stanley de Almeida, Wanderley, David Campos, Eick, Renato George, Dantas, Gustavo Coelho, Tino, Michele Karen dos Santos, Pesquero, João Bosco, Palma, Lilian Monteiro Pereira
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6768293/
https://www.ncbi.nlm.nih.gov/pubmed/31583090
http://dx.doi.org/10.1093/ckj/sfz043
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author de Holanda, Maria Izabel
Gomes, Caio Perez
Araujo, Stanley de Almeida
Wanderley, David Campos
Eick, Renato George
Dantas, Gustavo Coelho
Tino, Michele Karen dos Santos
Pesquero, João Bosco
Palma, Lilian Monteiro Pereira
author_facet de Holanda, Maria Izabel
Gomes, Caio Perez
Araujo, Stanley de Almeida
Wanderley, David Campos
Eick, Renato George
Dantas, Gustavo Coelho
Tino, Michele Karen dos Santos
Pesquero, João Bosco
Palma, Lilian Monteiro Pereira
author_sort de Holanda, Maria Izabel
collection PubMed
description A 17-year-old male presented thrombotic microangiopathy (TMA) at 6 months of age with arterial hypertension, anemia, thrombocytopenia and kidney injury improving with plasma infusions. Fourteen years later, he was diagnosed with severe arterial hypertension, increase in serum creatinine and chronic TMA on kidney biopsy. Eculizumab was started and after 18 months of treatment, he persisted with hypertension, decline in renal function and proteinuria. Genetic analysis demonstrated mutation in diacylglycerol kinase epsilon (DGKe). Complement blockade was stopped. This case of late diagnosis of DGKe nephropathy highlights the importance of genetic testing in patients presenting TMA during the first year of life.
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spelling pubmed-67682932019-10-03 Diacylglycerol kinase epsilon nephropathy: late diagnosis and therapeutic implications de Holanda, Maria Izabel Gomes, Caio Perez Araujo, Stanley de Almeida Wanderley, David Campos Eick, Renato George Dantas, Gustavo Coelho Tino, Michele Karen dos Santos Pesquero, João Bosco Palma, Lilian Monteiro Pereira Clin Kidney J Genetics and Kidney Disease A 17-year-old male presented thrombotic microangiopathy (TMA) at 6 months of age with arterial hypertension, anemia, thrombocytopenia and kidney injury improving with plasma infusions. Fourteen years later, he was diagnosed with severe arterial hypertension, increase in serum creatinine and chronic TMA on kidney biopsy. Eculizumab was started and after 18 months of treatment, he persisted with hypertension, decline in renal function and proteinuria. Genetic analysis demonstrated mutation in diacylglycerol kinase epsilon (DGKe). Complement blockade was stopped. This case of late diagnosis of DGKe nephropathy highlights the importance of genetic testing in patients presenting TMA during the first year of life. Oxford University Press 2019-05-14 /pmc/articles/PMC6768293/ /pubmed/31583090 http://dx.doi.org/10.1093/ckj/sfz043 Text en © The Author(s) 2019. Published by Oxford University Press on behalf of ERA-EDTA. http://creativecommons.org/licenses/by-nc/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com
spellingShingle Genetics and Kidney Disease
de Holanda, Maria Izabel
Gomes, Caio Perez
Araujo, Stanley de Almeida
Wanderley, David Campos
Eick, Renato George
Dantas, Gustavo Coelho
Tino, Michele Karen dos Santos
Pesquero, João Bosco
Palma, Lilian Monteiro Pereira
Diacylglycerol kinase epsilon nephropathy: late diagnosis and therapeutic implications
title Diacylglycerol kinase epsilon nephropathy: late diagnosis and therapeutic implications
title_full Diacylglycerol kinase epsilon nephropathy: late diagnosis and therapeutic implications
title_fullStr Diacylglycerol kinase epsilon nephropathy: late diagnosis and therapeutic implications
title_full_unstemmed Diacylglycerol kinase epsilon nephropathy: late diagnosis and therapeutic implications
title_short Diacylglycerol kinase epsilon nephropathy: late diagnosis and therapeutic implications
title_sort diacylglycerol kinase epsilon nephropathy: late diagnosis and therapeutic implications
topic Genetics and Kidney Disease
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6768293/
https://www.ncbi.nlm.nih.gov/pubmed/31583090
http://dx.doi.org/10.1093/ckj/sfz043
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