ÖZ
Amaç
Enürezis nokturna çocukluk ve yetişkinlik döneminde yaşam kalitesini olumsuz etkileyen bir durumdur. Primer enürezis noktürn (PEN), beş yaşından sonra kuru bir dönem olmaksızın yatak ıslatmanın devam ettiği bir durumdur. PEN, alt üriner semptomlar eşlik ettiğinde PEN non-monosemptomatik (PNMEN), eşlik etmediğinde monosemptomatik (PMEN) olarak adlandırılmaktadır. PEN’in etiyolojisi üzerine yapılan çalışmalarda 4p, 8q, 12q, 13q, 22q kromozomal bölgeleri, GNAZ, DRD5, D1B, NOS1, DRD4, PRDM13, SIM1, EDNRB, AQP2 genleri, rs9376454, rs60721117 varyantları genetik sorumlu olarak öne sürülmüştür. Burada PEN geniş bir ailenin sosyodemografik ve genetik bulguları incelenerek enürezis genetiğinin açıklığa kavuşturulması amaçlanmaktadır.
Gereç ve Yöntem
Ailenin ayrıntılı anamnezi alınmış, fiziksel muayeneleri, ultrasonografi ve voiding sistourografileri incelenmiş ve enürezisin alt tiplendirmesi yapılmıştır. Ailevi segregasyonu gösterilen altı bireyde tüm ekzom dizilemesi yapılmış ve bu bireylerde bulunan varyantlar ailenin PEN’li diğer yedi bireyinde taranmıştır.
Bulgular
Ailemizde tanısını koyduğumuz PEN’in, otozomal dominant geçişli bir durum olduğu, altı bireyin PMEN, yedi bireyin PNMEN ile uyumlu olduğu görülmüştür. Mesane disfonksiyonu üç kişide, uyku bozukluğu ise tüm kişilerde görülmüştür. Birinci grupta aday olabilecek PIGQ, CLCNKB, NCOR1, MROH2A, CCDC140 genlerinde ortak varyantlar saptanmış olup sadece NCOR1 genindeki c.568_571delinsTGAA (p.Arg190_Glu191delinsTer) varyantı diğer aile bireylerinde heterozigot olarak bulunmuştur.
Sonuç
Sosyodemografik özelliklerine bakıldığında, PEN etiyolojisinde sorumlu bulunan mesane disfonksiyonu ve uyku bozukluğu ailedeki başlıca hazırlayıcı faktörledir. Ailesel PEN olguları nadirdir ve PEN gibi multifaktöriyel hastalıkların moleküler temelini araştırmak için tüm ekzom ve genom çalışmaları nadiren yapılmaktadır. Yeni PEN olgularının tüm genom ve ekzom çalışmalarında aday genleri netleştirmek için bağımsız ailesel PEN olgularında tüm genom veya ekzom çalışmaları yapmak daha etkili bir yöntem olacaktır.
Anahtar Kelimeler:
Ailevi, enürezis noktürn, tüm ekzom dizileme, genetik, inkontinans
Kaynaklar
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