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Journals / GORM:Gynecology Obstetrics & Reproductive Medicine / 2008 / Cilt: 14 - Sayı: 3

Bir ailenin üç çocuğunda prenatal tanısı yapılan ureteropelvik bileşke darlığı

Prenatally diagnosed ureteropelvic junction obstruction in three siblings of one family: A case report

MEHMET SİNAN BEKSAÇ
Sevim BALCI
Zuhal YAPICI
Özgür ÖZYÜNCÜ
Pages
193–195
DOI
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AI Summary & Key Takeaways

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

Further molecular studies are necessary to prove that finding.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Ureteropelvic junction obstruction is a rare congenital abnormality.
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Key Findings & Data:The mode of inheritance is thought to be autosomal dominant with variable expressivity.
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Conclusion & Impact:Further molecular studies are necessary to prove that finding.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Ureteropelvic junction obstruction is a rare congenital abnormality. The mode of inheritance is thought to be autosomal dominant with variable expressivity. Here, a consanguineous family whose three siblings diagnosed to have various degree of ureteropelvic junction obstruction is presented. Ureteropelvic junction obstruction may have a genetic background and may recur in subsequent pregnancies. Furthermore, genetic thrombophilias may be associated with urinary abnormalities. Further molecular studies are necessary to prove that finding.

Özet

Ureteropelvik bileşke darlığı nadir görülen bir doğumsal anomalidir. Kalıtım şeklinin değişken geçişli otozomal dominant yol olduğu düşünülmektedir. Burada üç çocuğu da değişken derecelerde ureteropelvik bileşke darlığı tanısı almış olan, akraba evliliği yapmış bir aile sunulmaktadır. Ureteropelvik bileşke darlığının genetik bir tabanı olabileceği ve takip eden gebeliklerde tekrar görülebileceği düşünülmektedir. Ayrıca kalıtımsal trom-bofililerin üriner anomaliler ile ilgili olabileceği düşünülmüştür. Bu ilişkileri kanıtlamak için daha fazla moleküler çalışmaya ihtiyaç vardır.

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Cite This Article

BEKSAÇ, M. S., BALCI, S., YAPICI, Z., ÖZYÜNCÜ, Ö. (2008). Bir ailenin üç çocuğunda prenatal tanısı yapılan ureteropelvik bileşke darlığı. GORM:Gynecology Obstetrics & Reproductive Medicine, Cilt: 14 - Sayı: 3, 193–195. https://ajindex.com/articles/227099

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References (1)

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