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Pediatric Rheumatology
Published in: Pediatric Rheumatology 1/2013

Open Access 01-11-2013 | Meeting abstract

PW02-020 - Colitis revealing mevalonate kinase deficiency

Authors: L Michael, J Camille, BM Brigitte

Published in: Pediatric Rheumatology | Special Issue 1/2013

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Excerpt

Hyperimmunoglobulinemia D (HIDS) is the less severe form of mevalonate kinase deficiency (MKD) caused by recessive inherited mutation in the mevalonate kinase gene (MVK). HIDS is characterized by febrile attacks, often associated with transient digestive manifestations, such as abdominal pain, diarrhea and vomiting. …
Literature
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van der Hilst JC, Bodar EJ, Barron KS, Frenkel J, Drenth JP, van der Meer JW: Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome. Medicine. 2008, 87 (6): 301-310. 10.1097/MD.0b013e318190cfb7.CrossRefPubMed
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Bader-Meunier B, Florkin B, Sibilia J, Acquaviva C, Hachulla E, Grateau G: Mevalonate kinase deficiency: a survey of 50 patients. Pediatrics. 2011, 128 (1): e152-159. 10.1542/peds.2010-3639.CrossRefPubMed
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Touitou I, Lesage S, McDermott M, Cuisset L, Hoffman H, Dode C: Infevers: an evolving mutation database for auto-inflammatory syndromes. Human mutation. 2004, 24 (3): 194-198. 10.1002/humu.20080.CrossRefPubMed
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Cailliez M, Garaix F, Rousset-Rouviere C, Bruno D, Kone-Paut I, Sarles J: Anakinra is safe and effective in controlling hyperimmunoglobulinaemia D syndrome-associated febrile crisis. Journal of inherited metabolic disease. 2006, 29 (6): 763-CrossRefPubMed
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Nimubona L, Laloum D, Rolland MO, Read MH, Guillois B, Duhamel JF: An intestinal obstruction in an eight-month-old child suffering from mevalonic aciduria. Acta paediatrica. 2002, 91 (6): 714-716. 10.1111/j.1651-2227.2002.tb03308.x.CrossRefPubMed
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Ruemmele FM, El Khoury MG, Talbotec C, Maurage C, Mougenot JF, Schmitz J: Characteristics of inflammatory bowel disease with onset during the first year of life. Journal of pediatric gastroenterology and nutrition. 2006, 43 (5): 603-609. 10.1097/01.mpg.0000237938.12674.e3.CrossRefPubMed
Metadata
Title
PW02-020 - Colitis revealing mevalonate kinase deficiency
Authors
L Michael
J Camille
BM Brigitte
Publication date
01-11-2013
Publisher
BioMed Central
Published in
Pediatric Rheumatology / Issue Special Issue 1/2013
Electronic ISSN: 1546-0096
DOI
https://doi.org/10.1186/1546-0096-11-S1-A160

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