A case of homocyctinuria presented with severe anemia

In this report, we emphasize on homocyctinuria as a cause of anemia which is a frequently encountered finding, presenting a case that was presented with severe anemia and then diagnosed as homocyctinuria.

📌 3 Key Takeaways

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Objective & Hypothesis:Cases with inborn errors of metabolism have been encountered frequently in our country because of high rate of consanguinity in marriages.

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Key Findings & Data:As an example, homocyctinuria may manifest in various clinical forms.

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Conclusion & Impact:In this report, we emphasize on homocyctinuria as a cause of anemia which is a frequently encountered finding, presenting a case that was presented with severe anemia and then diagnosed as homocyctinuria.

🔬Design:Research Article

📍Scope:Comprehensive Sample

⚙️Variables:Anemi · Homosistinüri · Tanı

Abstract

Cases with inborn errors of metabolism have been encountered frequently in our country because of high rate of consanguinity in marriages. As an example, homocyctinuria may manifest in various clinical forms. In this report, we emphasize on homocyctinuria as a cause of anemia which is a frequently encountered finding, presenting a case that was presented with severe anemia and then diagnosed as homocyctinuria.

Özet

Ülkemizde akraba evliliklerinin oranının yüksek olması kalıtımsal hastalıkların sık görülmesine neden olmaktadır. Bu hastalıklardan biri olan homosistinüri de karşımıza çeşiti şekillerde gelebilmektedir. Yazımızda ağır bir anemi ile başvuran ve homosistinüri tanısı koyduğumuz bir olguyu sunarak sık karşılaştığımız bir şikayet olarak aneminin ayırıcı tanısında homosistinüriye dikkat çekmeyi amaçladık

Keywords

Anemi Homosistinüri Tanı ayırıcı Anemia Homocystinuria Diagnosis Differential

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Cite This Article

YILMAZ, K., BAŞPINAR, O., SİVASLI, E., PARAKAZAN, R., KILINÇ, M., COŞKUN, M. Y. (2006). A case of homocyctinuria presented with severe anemia. Şişli Etfal Hastanesi Tıp Bülteni, Cilt: 40 - Sayı: 1, 50–52. https://ajindex.com/articles/363948

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