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

Gok, VEYSEL; Tada, Hayato; Ensar Dogan, Muhammet; ALAKUŞ SARI, ÜMMÜ; ASLAN, KÜBRA; ÖZCAN, ALPER; YILMAZ, EBRU; KARDAŞ, FATİH; KARAKÜKCÜ, MUSA; CANATAN, HALİT; Karakukcu, ÇİĞDEM; Dundar, MUNİS; Inazu, Akihiro; Unal, EKREM

doi:10.1016/j.cca.2022.02.001

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

Atıf İçin Kopyala

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)

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
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.