Yıl: 2022 Cilt: 30 Sayı: 2 Sayfa Aralığı: 136 - 140 Metin Dili: İngilizce DOI: 10.5336/caserep.2021-86997 İndeks Tarihi: 04-07-2022

Mevalonic Aciduria Presenting with Recurrent Perianal Fistulas

Öz:
Mevalonic aciduria (MA) is a severe and rare clinical entity characterized by growth failure, neuropsychomotor development delay, dysmorphic features, periodic fever episodes of involving joints, abdominal organs and skin. Severe gastrointestinal involvement, perianal or gastrointestinal ulcers can be seen rarely.MA is caused by mutations in the gene encoding mevalonate kinase, with the degree of residual enzyme activity largely determining disease severity. Mevalonate kinase is crucial for the biosynthesis of nonsterol isoprenoids, which mediate protein prenylation. These gene defects not only intervene in the mevalonate pathway of cholesterol synthesis but also give rise to episodes of hyperinflammation with increased secretion of interleukin 1b (IL-1β). Although the precise pathogenesis of MA remains unclear, increasing evidence suggests that deficiency in protein prenylation leads to innate immune activation and systemic hyperinflammation. Recent treatment approaches have focused mainly on cytokine-directed biologic therapy because of the understanding of MA as an autoinflammatory disorder. In this paper, we present a 22-year-old female patient with MA disease who had been suffering from recurrent fever attacks, perianal abscesses, and fistulas since her infancy. She has been followed in our clinic since the age of 15 years. She was successfully treated with canakinumab. IL-1 blockade appears to be effective in treating the gastrointestinal complications of MA.
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Belge Türü: Makale Makale Türü: Olgu Sunumu Erişim Türü: Erişime Açık
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APA KOSE H, Cekic S, Temel S, ozemri sag s, kilic s (2022). Mevalonic Aciduria Presenting with Recurrent Perianal Fistulas. , 136 - 140. 10.5336/caserep.2021-86997
Chicago KOSE HÜLYA,Cekic Sukru,Temel Sehime G,ozemri sag sebnem,kilic sara sebnem Mevalonic Aciduria Presenting with Recurrent Perianal Fistulas. (2022): 136 - 140. 10.5336/caserep.2021-86997
MLA KOSE HÜLYA,Cekic Sukru,Temel Sehime G,ozemri sag sebnem,kilic sara sebnem Mevalonic Aciduria Presenting with Recurrent Perianal Fistulas. , 2022, ss.136 - 140. 10.5336/caserep.2021-86997
AMA KOSE H,Cekic S,Temel S,ozemri sag s,kilic s Mevalonic Aciduria Presenting with Recurrent Perianal Fistulas. . 2022; 136 - 140. 10.5336/caserep.2021-86997
Vancouver KOSE H,Cekic S,Temel S,ozemri sag s,kilic s Mevalonic Aciduria Presenting with Recurrent Perianal Fistulas. . 2022; 136 - 140. 10.5336/caserep.2021-86997
IEEE KOSE H,Cekic S,Temel S,ozemri sag s,kilic s "Mevalonic Aciduria Presenting with Recurrent Perianal Fistulas." , ss.136 - 140, 2022. 10.5336/caserep.2021-86997
ISNAD KOSE, HÜLYA vd. "Mevalonic Aciduria Presenting with Recurrent Perianal Fistulas". (2022), 136-140. https://doi.org/10.5336/caserep.2021-86997
APA KOSE H, Cekic S, Temel S, ozemri sag s, kilic s (2022). Mevalonic Aciduria Presenting with Recurrent Perianal Fistulas. Türkiye Klinikleri Journal of Case Reports, 30(2), 136 - 140. 10.5336/caserep.2021-86997
Chicago KOSE HÜLYA,Cekic Sukru,Temel Sehime G,ozemri sag sebnem,kilic sara sebnem Mevalonic Aciduria Presenting with Recurrent Perianal Fistulas. Türkiye Klinikleri Journal of Case Reports 30, no.2 (2022): 136 - 140. 10.5336/caserep.2021-86997
MLA KOSE HÜLYA,Cekic Sukru,Temel Sehime G,ozemri sag sebnem,kilic sara sebnem Mevalonic Aciduria Presenting with Recurrent Perianal Fistulas. Türkiye Klinikleri Journal of Case Reports, vol.30, no.2, 2022, ss.136 - 140. 10.5336/caserep.2021-86997
AMA KOSE H,Cekic S,Temel S,ozemri sag s,kilic s Mevalonic Aciduria Presenting with Recurrent Perianal Fistulas. Türkiye Klinikleri Journal of Case Reports. 2022; 30(2): 136 - 140. 10.5336/caserep.2021-86997
Vancouver KOSE H,Cekic S,Temel S,ozemri sag s,kilic s Mevalonic Aciduria Presenting with Recurrent Perianal Fistulas. Türkiye Klinikleri Journal of Case Reports. 2022; 30(2): 136 - 140. 10.5336/caserep.2021-86997
IEEE KOSE H,Cekic S,Temel S,ozemri sag s,kilic s "Mevalonic Aciduria Presenting with Recurrent Perianal Fistulas." Türkiye Klinikleri Journal of Case Reports, 30, ss.136 - 140, 2022. 10.5336/caserep.2021-86997
ISNAD KOSE, HÜLYA vd. "Mevalonic Aciduria Presenting with Recurrent Perianal Fistulas". Türkiye Klinikleri Journal of Case Reports 30/2 (2022), 136-140. https://doi.org/10.5336/caserep.2021-86997