A teenager boy with a novel variant of Sitosterolemia presented with pancytopenia.


Gok V., Tada H., Ensar Dogan M., ALAKUŞ SARI Ü., ASLAN K., ÖZCAN A., ...Daha Fazla

Clinica chimica acta; international journal of clinical chemistry, cilt.529, ss.61-66, 2022 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 529
  • Basım Tarihi: 2022
  • Doi Numarası: 10.1016/j.cca.2022.02.001
  • Dergi Adı: Clinica chimica acta; international journal of clinical chemistry
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CAB Abstracts, Chemical Abstracts Core, Chimica, EMBASE, MEDLINE, Veterinary Science Database
  • Sayfa Sayıları: ss.61-66
  • Anahtar Kelimeler: Plant sterol, Sitosterolemia, Macrothrombocytopenia, Stomatocytosis, Ezetimibe, PLANT STEROLS, ABCG5 GENE, EZETIMIBE, MACROTHROMBOCYTOPENIA, CHOLESTEROL, PLASMA, ANEMIA
  • Erciyes Üniversitesi Adresli: Evet

Özet

Background: Sitostemlemia, also known as phytosterolemia, results from increased intestinal absorption of plant sterols and decreased intestinal and biliary excretion of sterols, resulting in increased levels of plant sterols in the plasma. The most common symptoms include xanthomas, premature atherosclerosis, hemolytic anemia and macrothrombocytopenia, however delayed diagnosis or misdiagnosis also occur.