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Journals / Turkish Journal of Gastroenterology / 2013 / Cilt: 24 - Sayı: 1

İki jüvenil polip, herediter hemorajik telenjiektazi ve SMAD4 mutasyonu

Two juvenile polyps, hereditary hemorrhagic telangiectasia and SMAD4 mutation

Oya BALCI
Figen ÖZÇAY
Pages
57–60
DOI
—
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AI Summary & Key Takeaways

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

When a combination of these signs is noted, a genetic testing is warranted inspite of low polyp count in order to prevent potential risk of malignancy and other complications.

📌 3 Key Takeaways

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Objective & Hypothesis:An adolescent girl with recurrent iron deficiency anemia, epistaxis, cyanosis, hypoxemia, clubbing, two juvenile polyps in the colon, oro-naso-pharyngeal telangiectasias, multiple arterio-venous malformations of the lungs, and a new homozygous mutation in SMAD4 gene is reported.
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Key Findings & Data:Patients with juvenile polyps should be examined carefully for mucocutaneus findings and digital club- bing.
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Conclusion & Impact:When a combination of these signs is noted, a genetic testing is warranted inspite of low polyp count in order to prevent potential risk of malignancy and other complications.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

An adolescent girl with recurrent iron deficiency anemia, epistaxis, cyanosis, hypoxemia, clubbing, two juvenile polyps in the colon, oro-naso-pharyngeal telangiectasias, multiple arterio-venous malformations of the lungs, and a new homozygous mutation in SMAD4 gene is reported. Patients with juvenile polyps should be examined carefully for mucocutaneus findings and digital club- bing. When a combination of these signs is noted, a genetic testing is warranted inspite of low polyp count in order to prevent potential risk of malignancy and other complications.

Özet

Tekrarlayan demir eksikliği anemisi olan adolesan kız hastada, burun kanaması, siyanoz, hipoksemi, çomak parmak, kolonda iki adet juvenil polip, oronazofagiyal telenjiyektaziler, akciğerlerde çok sayıda arteriyovenöz malformasyonlar ve SMAD4 geninde yeni bir homozigot mutasyon bildirilmiştir. Kolonda juvenil polipi olan hastalar mukokütanöz bulguları ve çomak parmak açısından dikkatle incelenmelidir. Bu belirtiler bir arada belirlendiğinde, kolonda az sayıda polip olsa bile genetik test yapılması malignite ve diğer potansiyel tehlikeleri önlemek için önemlidir.

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Cite This Article

BALCI, O., ÖZÇAY, F. (2013). İki jüvenil polip, herediter hemorajik telenjiektazi ve SMAD4 mutasyonu. Turkish Journal of Gastroenterology, Cilt: 24 - Sayı: 1, 57–60. https://ajindex.com/articles/409567

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