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Dergiler / Medeniyet Medical Journal / 2021 / Cilt: 36 - Sayı: 4

Hepatocyte Nuclear Factor 1 Beta Mutation-associated Newborn Onset of Glomerulocystic Kidney Disease: A Case Presentation

Renal Ekojenite Artışı ile Başvuran ve HNF1 Beta Mutasyonuna Bağlı Glomerülokistik Hastalık Saptanan Olgu Sunumu

Nilüfer GÖKNAR
Melda EKICI AVCI
Diana UCKARDES
Emre KELESOGLU
Kubra TEKKUS ERMIS
Cengiz CANDAN
Sayfa
352–368
DOI
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Yapay Zeka Hızlı Bakış & Çıkarımlar

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⚡ TL;DR(1 Cümlede Hızlı Çıkarım)

Therefore, genetic diagnosis and counseling are important for cystic kidney diseases not only for formulating the diagnosis and early management plan but also for the diagnosis of potential asymptomatic cases in the family.

📌 3 Maddede Bu Makale

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Amaç & Hipotez:Mutations in hepatocyte nuclear factor-1 beta (HNF1B) are the most commonly identified genetic cause of renal malformations.
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Temel Bulgular & Veri:A 10-year-old boy who was evaluated for bilateral cystic kidneys and chronic kidney disease from the newborn period was diagnosed with HNF1B-related glomerulocystic disease by DNA sequencing.
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Sonuç & Katkı:Therefore, genetic diagnosis and counseling are important for cystic kidney diseases not only for formulating the diagnosis and early management plan but also for the diagnosis of potential asymptomatic cases in the family.
🔬Tür:Araştırma Makalesi
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Alan Parametreleri

Özet

Mutations in hepatocyte nuclear factor-1 beta (HNF1B) are the most commonly identified genetic cause of renal malformations. Heterozygous mutations are associated with renal cysts and diabetes syndrome. Various renal developmental abnormalities and maturity-onset diabetes of the young could be the presenting factors of these mutations. A 10-year-old boy who was evaluated for bilateral cystic kidneys and chronic kidney disease from the newborn period was diagnosed with HNF1B-related glomerulocystic disease by DNA sequencing. The differential diagnosis of autosomal dominant polycystic kidney disease was a diagnostic pitfall. The genetic screening of the family revealed his mother, sister, and brother to have the same mutation. Therefore, genetic diagnosis and counseling are important for cystic kidney diseases not only for formulating the diagnosis and early management plan but also for the diagnosis of potential asymptomatic cases in the family.

Abstract

Hepatosit nükleer faktör 1B’yi kodlayan (HNF1B) genindeki mutasyonlar, renal malformasyonların en sık genetik nedenlerinden biridir. Bu gendeki heterozigot mutasyonlar renal kist ve diyabet sendromu ile ilişkilidir. Hastalar; farklı renal gelişimsel anomaliler ve gençlerde görülen erişkin tip diyabet ile başvurabilirler. Bu olgu sunumunda, yenidoğan döneminden itibaren her iki böbrekte kistlerin olması ve kronik böbrek hastalığı nedeniyle takip edilen ve DNA sekanslama yöntemi ile HNF1B ilişkili glomerülokistik hastalık tanısı alan on yaşında erkek hasta anlatılmıştır. Ayırıcı tanıda yer alan otozomal dominant polikistik böbrek hastalığı, genetik analiz ile dışlanmıştır. Aile taramasında annenin, kız kardeş ve erkek kardeşin aynı mutasyona sahip olduğu gösterilmiştir. Kistik böbrek hastalıklarında genetik inceleme ve danışmanlık, sadece erken tanı ve tedavi için değil, ayrıca ailedeki asemptomatik olguların da tanısı için önemlidir.

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Bu Makaleye Atıf Yap

GÖKNAR, N., AVCI, M. E., UCKARDES, D., KELESOGLU, E., ERMIS, K. T., CANDAN, C. (2021). Hepatocyte Nuclear Factor 1 Beta Mutation-associated Newborn Onset of Glomerulocystic Kidney Disease: A Case Presentation. Medeniyet Medical Journal, Cilt: 36 - Sayı: 4, 352–368. https://ajindex.com/articles/407134

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