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SİTOSTEROLEMİ (B-SİTOSTEROLEMİ)

SITOSTEROLEMIA (B-SİTOSTEROLEMIA)

Journal Name:

  • Selçuk Tıp Dergisi

Publication Year:

  • 2008

Key Words:

Keywords (Original Language):

Author NameUniversity of Author
Abstract (2. Language): 
Aim: Sitosterolemia -also known as phytosterolemia- is a rare autosomal, recessively inherited dis¬ease characterized by elevated plasma and tissue plant sterol concentrations. Sitosterolemia is char¬acterized by tendon and tuberous xanthomas and by a strong propensity toward premature coro¬nary atherosclerosis. In this article information concerning sitosterolemia disease are reviewed. Main Main Findings: In contrast to healthy subjects with total plasma plant sterols less than 1 mg/dl, patients with sitosterolemia have plasma phytosterol levels in the range of 12 to 40 mg/dl. The main plant sterols in patients with phytosterolemia are sitosterol and kampesterol but also elevated levels of stigmasterol, avenasterol, brassikasterol, kampestanol, sitostanol are found. Sitosterolemia has been shown to result from mutations in either of the genes for 2 proteins (ABCG5 or ABCG8). These ABC transporters preferentially pump plant sterols out of intestinal cells into the gut lumen, thereby decreasing sterol absorption. Results: We believe that it is important to measure blood sitosterol lev¬els in suspicious patients in order to get correct diagnosis and treatment the sitosterolemia.
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Abstract (Original Language): 
Amaç: Sitosterolemi; fitosterolemi olarak da adlandırılan, artmış plazma ve doku sterol konsantras-yonuyla karakterize, çok nadir görülen otozomal resesif kalıtsal bir hastalıktır. Erken koroner ateroskleroza eğilim gösteren, tendon ve tüberoz ksantomlarıyla karakterizedir. Bu makalede sitos¬terolemi hastalığı ile ilgili bilgiler derlenmiştir. Ana Bulgular: Sağlıklı kişilerde total plazma bitki sterol konsantrasyonu İmg/dl'den daha az olduğu halde, sitosterolemi hastalarında bu oran 12-40 mg/dL kadar yükselmektedir. Sitosterolemi hastalarında, bitki sterolleri olarak başta sitosterol ve kampesterol artmış olmasına rağmen, aynı zamanda stigmasterol, avenasterol, brassikasterol, kampestanol ve sitositanol da bulunur. Sitosterolemi'nin ABCG8 ve ABCG5 proteinleri için genlerin herhangi birinde mutasyonlardan kaynaklandığı belirlenmiştir. ATP-bağlayıcı kaset (ABC) transport proteinleri bitki sterollerini intestinal hücrelerde bağırsak lümeni içerisine geri pompalayarak, sterol absorpsiyonunu azaltırlar. Sonuç: Sitosterolemi hastalığının teşhis ve tedavisinde yanılmamak için, şüpheli kişilerde mutlaka sitosterollerin ölçülmesi gerektiği kanaatindeyiz.
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  • 3
171-
  • Turkish

REFERENCES

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