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A Case of Hyperimmunoglobulinemia D Syndrome Successfully Treated with Canakinumab
Hyperimmunoglobulinemia D syndrome is a rare autosomal recessive autoinflammatory disorder caused by mutations in the mevalonate kinase gene (MVK). In a proportion of patients, however, no MVK mutations are detected. Although various standard anti-inflammatory drugs have been tried, until now there...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi Publishing Corporation
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3652103/ https://www.ncbi.nlm.nih.gov/pubmed/23691418 http://dx.doi.org/10.1155/2013/795027 |
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author | Tsitsami, Elena Papadopoulou, Charis Speletas, Matthaios |
author_facet | Tsitsami, Elena Papadopoulou, Charis Speletas, Matthaios |
author_sort | Tsitsami, Elena |
collection | PubMed |
description | Hyperimmunoglobulinemia D syndrome is a rare autosomal recessive autoinflammatory disorder caused by mutations in the mevalonate kinase gene (MVK). In a proportion of patients, however, no MVK mutations are detected. Although various standard anti-inflammatory drugs have been tried, until now there is no consensus about how HIDS should be treated. We present a case of HIDS in an 8-year-old girl whose clinical picture had started before the end of the first year of life. The patient had consistently elevated IgD levels but no mutations were found after a full-length analysis of the MVK gene. The method of MVK mutational analysis is presented in details. Treatment with canakinumab in a final single dose of 4 mg/kg every 4 weeks resulted in the disappearance of febrile attacks and a considerable improvement of patients' quality of life during a 12-month follow-up period. The drug has been well tolerated, and no side effects were observed. |
format | Online Article Text |
id | pubmed-3652103 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2013 |
publisher | Hindawi Publishing Corporation |
record_format | MEDLINE/PubMed |
spelling | pubmed-36521032013-05-20 A Case of Hyperimmunoglobulinemia D Syndrome Successfully Treated with Canakinumab Tsitsami, Elena Papadopoulou, Charis Speletas, Matthaios Case Rep Rheumatol Case Report Hyperimmunoglobulinemia D syndrome is a rare autosomal recessive autoinflammatory disorder caused by mutations in the mevalonate kinase gene (MVK). In a proportion of patients, however, no MVK mutations are detected. Although various standard anti-inflammatory drugs have been tried, until now there is no consensus about how HIDS should be treated. We present a case of HIDS in an 8-year-old girl whose clinical picture had started before the end of the first year of life. The patient had consistently elevated IgD levels but no mutations were found after a full-length analysis of the MVK gene. The method of MVK mutational analysis is presented in details. Treatment with canakinumab in a final single dose of 4 mg/kg every 4 weeks resulted in the disappearance of febrile attacks and a considerable improvement of patients' quality of life during a 12-month follow-up period. The drug has been well tolerated, and no side effects were observed. Hindawi Publishing Corporation 2013 2013-04-16 /pmc/articles/PMC3652103/ /pubmed/23691418 http://dx.doi.org/10.1155/2013/795027 Text en Copyright © 2013 Elena Tsitsami et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Tsitsami, Elena Papadopoulou, Charis Speletas, Matthaios A Case of Hyperimmunoglobulinemia D Syndrome Successfully Treated with Canakinumab |
title | A Case of Hyperimmunoglobulinemia D Syndrome Successfully Treated with Canakinumab |
title_full | A Case of Hyperimmunoglobulinemia D Syndrome Successfully Treated with Canakinumab |
title_fullStr | A Case of Hyperimmunoglobulinemia D Syndrome Successfully Treated with Canakinumab |
title_full_unstemmed | A Case of Hyperimmunoglobulinemia D Syndrome Successfully Treated with Canakinumab |
title_short | A Case of Hyperimmunoglobulinemia D Syndrome Successfully Treated with Canakinumab |
title_sort | case of hyperimmunoglobulinemia d syndrome successfully treated with canakinumab |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3652103/ https://www.ncbi.nlm.nih.gov/pubmed/23691418 http://dx.doi.org/10.1155/2013/795027 |
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