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Journals / İstanbul Tıp Dergisi / 2010 / Cilt: 11 - Sayı: 4

Renal involvement in the Laurence moon biedl syndrome: A case report

Laurence moon Biedl sendromlu renal yetersizlikli bir olgu: Olgu sunumu

Hamza ASLANHAN
Bekir HACIOĞLU
Esma Güldal ALTUNOĞLU
Ender ÜLGEN
Yurdaer ÖZCAN
Pages
175–178
Publication Date
2022-10-18
DOI
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AI Summary & Key Takeaways

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

We present a 21-year-old LMBS patient presenting with end stage renal disease.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:The Laurence Moon Biedl syndrome (LMBS), a rare autosomal recessive disorder, is characterized by obesity, mental retardation, retinitis pigmentosa, polydactyly, and hypogenitalism.
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Key Findings & Data:Other systemic features include hypertension, diabetes mellitus, hepatic fibrosis and structural abnormalities of the kidney or functional impairment.
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Conclusion & Impact:We present a 21-year-old LMBS patient presenting with end stage renal disease.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

The Laurence Moon Biedl syndrome (LMBS), a rare autosomal recessive disorder, is characterized by obesity, mental retardation, retinitis pigmentosa, polydactyly, and hypogenitalism. Other systemic features include hypertension, diabetes mellitus, hepatic fibrosis and structural abnormalities of the kidney or functional impairment. End stage renal failure is the most frequent cause of death. We present a 21-year-old LMBS patient presenting with end stage renal disease.

Özet

Laurence Moon Biedl sendromu (LMBS) otozomal resesif geçişli obezite, mental retardasyon, retinitis pigmentoza, polidaktili ve hipogenitalizmle karakterize ender görülen bir hastalıktır. Hipertansiyon, diyabetes mellitus, karaciğer fibrozisi ve böbreklerde yapısal anomali veya fonksiyonel bozukluk hastalığın diğer sistemik bulgularını oluşturur. Son dönem böbrek yetersizliği en sık ölüm nedenidir. Bu yazıda, LMBS ve son dönem böbrek hastası olan 21 yaşındaki hasta sunuldu.

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Cite This Article

ASLANHAN, H., HACIOĞLU, B., ALTUNOĞLU, E. G., ÜLGEN, E., ÖZCAN, Y. (2022). Renal involvement in the Laurence moon biedl syndrome: A case report. İstanbul Tıp Dergisi, Cilt: 11 - Sayı: 4, 175–178. https://ajindex.com/articles/552581

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References (8)

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