PReS-FINAL-2239: Renal AA amyloidosis in a child with hyper-IgD syndrome and a novel MVK mutation
نویسندگان
چکیده
Introduction AA amyloidosis may develop as a consequence of chronic inflammatory conditions including autoinflammatory diseases(AID). Mevalonate-kinase(MVK) deficiency(MKD) appears to be the least frequent underlying condition among monogenic periodic syndromes. Moreover, amyloidosis rarely manifests during childhood. We report a case of a small child in whom renal biopsy performed because of the cortico-resistant nephrotic syndrome revealed amyloid A.
منابع مشابه
P02-015 - A novel MVK mutation in a child with AA amyloid
Introduction AA amyloidosis may develop as a consequence of chronic inflammatory conditions including inherited periodic fever syndromes. Mevalonate-kinase (MVK) deficiency (MKD) appears to be the least frequent underlying condition after FMF, TRAPS and CAPS. Moreover, amyloidosis rarely manifests during childhood. We report a case of a small child in whom renal biopsy performed because of the ...
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Introduction Mevalonate kinase deficiency-associated periodic fever syndrome is a systemic autoinflammatory disease caused by mutations in the mevalonate kinase gene (MVK), previously named “hyper-IgD syndrome” due to its characteristic increase in serum IgD level. The patients suffer recurrent fever attacks every 2-8 weeks beginning from infancy, often precipitated by immunizations, infections...
متن کاملHyper-IgD and periodic fever syndrome: a new MVK mutation (p.R277G) associated with a severe phenotype.
Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS; MIM# 260920) is a rare recessively-inherited autoinflammatory condition caused by mutations in the MVK gene, which encodes for mevalonate kinase, an essential enzyme in the isoprenoid pathway. HIDS is clinically characterized by recurrent episodes of fever and inflammation. Here we report on the case of a 2 year-old Portuguese boy wit...
متن کاملRenal parenchymal calcification secondary to systemic AA amyloidosis
A 28-year-old man presented with a history of hyper-IgD and periodic fever syndrome (HIDS), which had resulted in systemic AA amyloidosis. He had evidence of amyloid deposition in the kidney, liver and spleen. A living donor kidney transplant in 2005 failed after 6 years due to recurrent amyloid in the transplant kidney. A trial of tocilizumab, an anti-IL-6 monoclonal antibody, started in July ...
متن کاملHyper-IgD syndrome: a new mutation (p.R277G) with a severe phenotype
Background Hyperimmunoglobulin D Syndrome (HIDS is a rare autosomal recessive condition caused by mutations in the Mevalonate Kinase (MVK) gene that codes for MVK, an essential enzyme in the isoprenoid pathway. It shows a wide phenotypic spectrum probably related with the residual activity of this enzyme (1–20% of normal). So far, about 63 mutations have been described and the four most prevale...
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عنوان ژورنال:
دوره 11 شماره
صفحات -
تاریخ انتشار 2013