Kartagener sendromu’nun eşlik ettiği bir niemann-pick olgusu

Objective & Hypothesis:Niemann-Pick disease is a rare lipid storage disorder with autosomal recessive inheritance, which is characterised by the accumulation of sphingomyelin and other sphingolipids in macrophages.

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Key Findings & Data:Kartagener’s Syndrome is a syndrome with autosomal recessive inheritance consisting of chronic paranasal sinusitis, situs inversus, and bronchiectasis.

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Conclusion & Impact:Here we reported a case having Kartagener’s Syndrome with concomitant Nie- mann-Pick disease, as such a case has not been reported in the literature.

🔬Design:Research Article

📍Scope:Comprehensive Sample

⚙️Variables:Domain Parameters

Abstract

Niemann-Pick disease is a rare lipid storage disorder with autosomal recessive inheritance, which is characterised by the accumulation of sphingomyelin and other sphingolipids in macrophages. Kartagener’s Syndrome is a syndrome with autosomal recessive inheritance consisting of chronic paranasal sinusitis, situs inversus, and bronchiectasis. Here we reported a case having Kartagener’s Syndrome with concomitant Nie- mann-Pick disease, as such a case has not been reported in the literature.

Özet

Niemann-Pick Hastalığı, nadir bir lipid depo hastalığı olup otozomal resesif kalıtılır, makrofajlarda sfingomyelin ve diğer sfingolipidlerin birikimi ile karakterizedir. Kartagener Sendromu, otozomal resesif kalıtılan bir sendrom olup kronik paranazal sinüzit, situs inversus ve bronşiektazi triadını içerir.Bu çalışmada, Niemann-Pick Hastalığı ve Kartagener Sendromu birlikteliği olan bir olguyu, literatürde rastlanmamış olması nedeniyle sunduk.

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Cite This Article

KARDAŞ, F., KEKLİK, M., YILDIRIM, A., ŞIVGIN, S., ÜNAL, A., ÇETİN, M., PALA, Ç., KONTAŞ, O., BALDANE, S. (2022). Kartagener sendromu’nun eşlik ettiği bir niemann-pick olgusu. Erciyes Tıp Dergisi, Cilt: 35 - Sayı: 3, 174–176. https://ajindex.com/articles/502408

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