Abstract
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 cortico-resistant nephrotic syndrome revealed AA amyloidosis.
Highlights
AA amyloidosis may develop as a consequence of chronic inflammatory conditions including inherited periodic fever syndromes
Over the previous 2 years she had been suffering with recurrent episodes of unexplained fever with pharyngitis and lymphadenitis lasting 3 days in 2-4 weekly intervals and received a putative diagnosis of PFAPA syndrome
After a laborious genetic screening to exclude mutations causing FMF, TRAPS and CAPS, following variants in MVK gene were identified: Mutation V377I and a novel deletion in exon 5 C152WfsX6(c.450_453delGGTG). The latter terminates the protein six amino acids after the deletion occurs, 3General University Hospital, Prague, Czech Republic Full list of author information is available at the end of the article effectively making the protein shorter
Summary
AA amyloidosis may develop as a consequence of chronic inflammatory conditions including inherited periodic fever syndromes. Case Report A 4-years old Caucasian girl with negative family history presented with features of nephrotic syndrome in 1/2011. Over the previous 2 years she had been suffering with recurrent episodes of unexplained fever with pharyngitis and lymphadenitis lasting 3 days in 2-4 weekly intervals and received a putative diagnosis of PFAPA (periodic fever, adenitis, pharyngitis, aphtae) syndrome. Despite the increasing frequency of febrile episodes over the last year investigations aimed at excluding monogenic fevers were not performed.
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