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Journals / Ege Pediatri Bülteni / 2003 / Cilt: 10 - Sayı: 1

Report of a case of homocystinuria with cerebral artery thromboembolism

Serebral arter trombozlu ile gelen bir homosistinüri olgusu

Aysel AYDOĞAN
Çiğdem ECEVİT
Serdar ALTINÖZ
Tülay KAVAKLI
Mustafa DOĞAN
Pages
35–38
Publication Date
2022-10-17
DOI
—
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

We also evaluated homocystinuria and the genetic or aquired factors which elevates the risk of thromboembolism.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Homocystinuria is an inherited methabolic disease which occurs due to deficiency of cystathionine ß synthase.
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Key Findings & Data:As a result of this methabolic disorder, homocystine level increases in urine and other body fluids.
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Conclusion & Impact:We also evaluated homocystinuria and the genetic or aquired factors which elevates the risk of thromboembolism.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Homocystinuria is an inherited methabolic disease which occurs due to deficiency of cystathionine ß synthase. As a result of this methabolic disorder, homocystine level increases in urine and other body fluids. In this disease, the risk of thromboembolism elevates due to changes in the vascular walls, increased platelet adhesiveness and high homocystine levels. In this case report, an 11 year old boy with homocystinuria who was presented with cerebral artery thromboembolism was found interesting to be presented. We also evaluated homocystinuria and the genetic or aquired factors which elevates the risk of thromboembolism.

Özet

Homosistinüri, sistatyon ß sentaz enzim eksikliği sonucu gelişen kalıtsal metabolik bir hastalıktır. Biyokimyasal bozukluk sonucu kan, idrar ve diğer sıvılarda ara metabolit olan sistin artar. Hastalarda; yüksek homosistin düzeyine, damar cidarındaki yapısal bozukluğa ve trombosit agregasyonunda artmaya bağlı olarak tromboza eğilim yüksektir. Bu çalışmada, 11 yaşında serebral arter trombozu nedeniyle homosistinüri tanısı alan olgu ilginç bulunarak sunuldu. Olgu değerlendirilirken, hem kalıtsal bir hastalık olan homosistinüri, hem de çocukta tromboz riski yaratan akkiz ve genetik faktörler gözden geçirilmiştir.

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Cite This Article

AYDOĞAN, A., ECEVİT, Ç., ALTINÖZ, S., KAVAKLI, T., DOĞAN, M. (2022). Report of a case of homocystinuria with cerebral artery thromboembolism. Ege Pediatri Bülteni, Cilt: 10 - Sayı: 1, 35–38. https://ajindex.com/articles/495823

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