Journals / İzmir Tepecik Eğitim Hastanesi Dergisi / 2015 / Cilt: 25 - Sayı: 1

A case of Bartter syndrome presenting with atypical clinical manifestations

Atipik klinik prezantasyon gösteren bir Bartter sendromu olgusu

Pages
58–61
DOI
—
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AI Summary & Key Takeaways

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

It should be kept in mind that they may present in other age groups and contrary to clinical expectation, patients may not be normo/hypotensive.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Bartter syndrome is a consequence of the mutations in thick ascending loop of the Henle which cause deterioration in the effects of carrier proteins.
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Key Findings & Data:Clinical spectrum complex includes severe hypokalemia, metabolic alkalosis and low-normal blood pressure which mainly caused by tubular Na and Cl loss.
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Conclusion & Impact:It should be kept in mind that they may present in other age groups and contrary to clinical expectation, patients may not be normo/hypotensive.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Bartter syndrome is a consequence of the mutations in thick ascending loop of the Henle which cause deterioration in the effects of carrier proteins. Clinical spectrum complex includes severe hypokalemia, metabolic alkalosis and low-normal blood pressure which mainly caused by tubular Na and Cl loss. This a very rare condition usually accepted to occur in perinatal or pediatric age. It should be kept in mind that they may present in other age groups and contrary to clinical expectation, patients may not be normo/hypotensive.

Özet

Bartter sendromu Henle kulpunun çıkan kalın kolundaki taşıyıcı proteinlerin etkisini ortadan kaldıran mutasyonlar nedeniyle ortaya çıkmaktadır. Oluşan klinik bulgular kompleksi, esas olarak tübüler sodyum ve klorür kaybının neden olduğu; ağır hipokalemi, metabolik alkaloz ve düşük-normal kan basıncı ile kendini göstermektedir. Son derece ender görülen bu kalıtımsal bozukluğa ait klinik bulguların genellikle perinatal ve çocukluk dönemlerinde ortaya çıktığı kabul edilmektedir. Bunun yanı sıra hastaların atipik yaşlarda da hekimin karşısına gelebileceği ve klinik beklentinin ötesinde her zaman normo/hipotansif olmayabileceği de akılda tutulmalıdır.

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Cite This Article

KIN, B. T., TEKÇE, H., DAĞISTAN, Y., BAHADİR, H. Ç. (2015). A case of Bartter syndrome presenting with atypical clinical manifestations. İzmir Tepecik Eğitim Hastanesi Dergisi, Cilt: 25 - Sayı: 1, 58–61. https://ajindex.com/articles/210959

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