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Pediatric Nephrology

, Volume 21, Issue 12, pp 1917–1918 | Cite as

Crescentic glomerulonephritis is part of hyperimmunoglobulinemia D syndrome

  • Mathilde Cailliez
  • Florentine Garaix
  • Caroline Rousset-Rouvière
  • Daniele Bruno
  • Laurent Daniel
  • Brigitte Chabrol
  • Jacques Sarles
  • Michel TsimaratosEmail author
Letter to the Editors

Sirs,

The syndrome associating fever and hyperimmunoglobulinemia D (HIDS, MIM#260920) is characterized by periodic febrile attacks occurring every 4–8 weeks with an intense inflammatory reaction accompanied by lymphadenopathies, abdominal pain, diarrhea, joint pain, hepatosplenomegaly, and cutaneous signs [1]. Mutations in the gene encoding the enzyme mevalonate kinase (MVK, MIM+251170) are responsible for this syndrome [2]. MVK deficit is known and causes the developmental disease called mevalonic aciduria (MVA) [3]. MVA is caused by homozygosity or compound heterozygosity for disease-causing mutations in the MK gene localized to chromosome 12q24. The gene is subject to autosomal recessive inheritance. MVA is biochemically characterized by the accumulation of mevalonic acid and mevalonolactone.

The diagnosis of MVA should be suspected in patients with mild dysmorphic features, psychomotor retardation, failure to thrive, hepatosplenomegaly and recurrent febrile episodes. HIDS is...

Keywords

Renal Involvement Mevalonic Acid Crescentic Glomerulonephritis Mevalonate Kinase Glomerular Capillary Wall 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© IPNA 2006

Authors and Affiliations

  • Mathilde Cailliez
    • 1
  • Florentine Garaix
    • 1
  • Caroline Rousset-Rouvière
    • 1
  • Daniele Bruno
    • 1
  • Laurent Daniel
    • 1
  • Brigitte Chabrol
    • 1
  • Jacques Sarles
    • 1
  • Michel Tsimaratos
    • 1
    • 2
    Email author
  1. 1.Service de Pédiatrie MultidisciplinaireAP-HM Timone-EnfantsMarseille cedex 05France
  2. 2.Timone-Enfants AP-HMMarseilleFrance

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