Crescentic glomerulonephritis is part of hyperimmunoglobulinemia D syndrome
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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 . Mutations in the gene encoding the enzyme mevalonate kinase (MVK, MIM+251170) are responsible for this syndrome . MVK deficit is known and causes the developmental disease called mevalonic aciduria (MVA) . 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...
KeywordsRenal Involvement Mevalonic Acid Crescentic Glomerulonephritis Mevalonate Kinase Glomerular Capillary Wall
- 2.Houten SM, Kuis W, Duran M, de Koning TJ, van Royen-Kerkhof A, Romeijin GJ, Frenkel J, Dorland L, de Barse MM, Huijbers WA, Kijkers GT, Waterham HR, Wander FJ, Poll-The BT (1999) Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinemia D and periodic fever syndrome. Nat Genet 22:175–177CrossRefGoogle Scholar