scholarly journals A Case of Hyper IgD and Periodic Fever Syndrome in Japan

2008 ◽  
Vol 1 ◽  
pp. CCRep.S722
Author(s):  
Hisashi Kawashima ◽  
Akiyoshi Hoshi ◽  
Hiroaki Ioi ◽  
Chiako Ishii ◽  
Satoshi Sato ◽  
...  
Keyword(s):  
Periodic Fever ◽  
Mevalonic Acid ◽  
Periodic Fever Syndrome ◽  
First Report ◽  
Abdominal Symptoms ◽  
Genomic Study ◽  
Old Japanese ◽  
Hyper Igd Syndrome ◽  
Inflammatory Drugs ◽  
Urine And Serum

We report a four-year-old Japanese girl with hyper IgD and periodic fever syndrome. There is a first report of hyper IgD syndrome (HIDS) of which the genomic study was done in Japan. In this report a girl complained of periodic fever and abdominal symptoms accompanied with high levels of mevalonic acid in urine and serum. She has been well controlled by non-steroidal anti-inflammatory drugs (NSAIDs) for 3 years.

scholarly journals First report of systemic reactive (AA) amyloidosis in a patient with the hyperimmunoglobulinemia D with periodic fever syndrome

2004 ◽  
Vol 50 (9) ◽  
pp. 2966-2969 ◽  
Author(s):  
Laura Obici ◽  
Carlo Manno ◽  
Andrea Onetti Muda ◽  
Paolo Picco ◽  
Andrea D'Osualdo ◽  
...  
Keyword(s):  
Periodic Fever ◽  
Periodic Fever Syndrome ◽  
Aa Amyloidosis ◽  
First Report

First report of macrophage activation syndrome in hyperimmunoglobulinemia D with periodic fever syndrome

2007 ◽  
Vol 56 (2) ◽  
pp. 658-661 ◽  
Author(s):  
Donato Rigante ◽  
Ettore Capoluongo ◽  
Barbara Bertoni ◽  
Valentina Ansuini ◽  
Antonio Chiaretti ◽  
...  
Keyword(s):  
Macrophage Activation Syndrome ◽  
Macrophage Activation ◽  
Periodic Fever ◽  
Periodic Fever Syndrome ◽  
First Report ◽  
Activation Syndrome

An Atypical Presentation of Mevalonate Kinase Deficiency in Response to Colchicine Treatment

2021 ◽  
pp. 1-6
Author(s):  
Merve Koç Yekedüz ◽  
Neslihan Doğulu ◽  
Ümmühan Öncül ◽  
Engin Köse ◽  
Serdar Ceylaner ◽  
...  
Keyword(s):  
Periodic Fever ◽  
Mevalonic Acid ◽  
Colchicine Treatment ◽  
Recurrent Fever ◽  
Mevalonate Kinase Deficiency ◽  
Mevalonate Kinase ◽  
Atypical Presentation ◽  
Genetic Investigation ◽  
Duration Of Treatment ◽  
Inflammatory Drugs

Mevalonate kinase deficiency (MKD) is a periodic fever syndrome. Nonsteroidal anti-inflammatory drugs, corticosteroids, and anakinra are the most common treatments. However, colchicine is considered insufficient in disease control. In this case report, we present an 8-month-old infant with an atypical presentation of MKD. She had recurrent fever episodes, diarrhea, and lethargy. Elevated mevalonic acid was not detected in the urine. However, the genetic investigation showed a novel pathogenic heterozygous c.925G&#x3e;C (p.Gly309Arg) variant and a heterozygous c.1129G&#x3e;A (p.Val377Ile) mutation in the <i>MVK</i> gene. The patient was treated with colchicine for 8 months. During treatment, no further fever episode had been observed. It should be kept in mind that mevalonic acid excretion may not be present in the urine with mild MKD. Colchicine may be a reasonable option in mild MKD patients for a longer duration of treatment due to favorable adverse event profiles.

scholarly journals A Novel Unstable Duplication Upstream of HAS2 Predisposes to a Breed-Defining Skin Phenotype and a Periodic Fever Syndrome in Chinese Shar-Pei Dogs

PLoS Genetics ◽  
2011 ◽  
Vol 7 (3) ◽  
pp. e1001332 ◽  
Author(s):  
Mia Olsson ◽  
Jennifer R. S. Meadows ◽  
Katarina Truvé ◽  
Gerli Rosengren Pielberg ◽  
Francesca Puppo ◽  
...  
Keyword(s):  
Periodic Fever ◽  
Periodic Fever Syndrome

Making a diagnosis of periodic fever syndrome: Experience from a single tertiary centre

2021 ◽  
Author(s):  
Peter McNaughton ◽  
Sophie Willcocks ◽  
Su Han Lum ◽  
Ben Whitehead ◽  
Jane Peake ◽  
...  
Keyword(s):  
Periodic Fever ◽  
Periodic Fever Syndrome ◽  
Tertiary Centre

AA amyloidosis complicating hyperimmunoglobulinemia D with periodic fever syndrome: A report of two cases

2006 ◽  
Vol 54 (6) ◽  
pp. 2010-2014 ◽  
Author(s):  
Helen J. Lachmann ◽  
Hugh J. B. Goodman ◽  
Peter A. Andrews ◽  
Hugh Gallagher ◽  
James Marsh ◽  
...  
Keyword(s):  
Periodic Fever ◽  
Periodic Fever Syndrome ◽  
Aa Amyloidosis
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