Çocuklarda Genetik Kistik Böbrek Hastalıkları
Özet
Çocuklarda genetik kistik böbrek hastalıkları, böbrek tübül epitel hücrelerindeki primer siliyaların yapısını oluşturan proteinleri kodlayan genlerdeki mutasyonlar sonucu gelişen "siliyopati" grubu bozukluklardır. Otozomal Resesif Polikistik Böbrek Hastalığı (ORPBH), erken yaşta ortaya çıkan, böbreklerde mikrokistler ve karaciğerde konjenital hepatik fibrozis ile seyreden ağır bir tablodur. Otozomal Dominant Polikistik Böbrek Hastalığı (ODPBH) ise daha sık görülür; genellikle yetişkinlikte belirti verse de çocuklarda progresif böbrek büyümesi ve hipertansiyonla başlayabilir. Nefronofitizis (NPHP), sinsi başlangıçlı bir tübülointerstisyel hastalık olup çocuklarda son dönem böbrek yetmezliğinin en önemli genetik nedenlerinden biridir ve sıklıkla retinitis pigmentosa gibi böbrek dışı bulgularla birliktedir. Ayrıca UMOD, REN ve MUC1 mutasyonlarıyla ilişkili tübülointerstisyel hastalıklar, HNF1-β nefropatisi ve Oro-fasio-dijital sendrom gibi durumlar da kistik böbrek tutulumu yapabilir. Tanıda ultrasonografi (US), bilgisayarlı tomografi (BT) ve manyetik rezonans görüntüleme (MRG) kullanılırken, kesin teşhis için Yeni Nesil Dizi Analizi (NGS) altın standarttır. Tedavi yaklaşımları ise esas olarak kan basıncı kontrolü, elektrolit dengesi ve renal replasman gibi destekleyici yöntemlerden oluşur.
Cystic kidney diseases in children are a group of disorders called "ciliopathies" that result from mutations in genes encoding proteins that form the structure of primary cilia in renal tubule epithelial cells. Autosomal Recessive Polycystic Kidney Disease (ARPKD) is a severe condition manifesting at an early age, characterized by microcysts in the kidneys and congenital hepatic fibrosis in the liver. Autosomal Dominant Polycystic Kidney Disease (ADPKD) is more common; although it usually presents symptoms in adulthood, it can start in children with progressive kidney enlargement and hypertension. Nephronophthisis (NPHP) is an insidious tubulointerstitial disease and one of the most important genetic causes of end-stage renal failure in children, often associated with extra-renal findings such as retinitis pigmentosa. Additionally, tubulointerstitial diseases associated with UMOD, REN, and MUC1 mutations, HNF1-β nephropathy, and Oro-facio-digital syndrome can also involve cystic kidney findings. While ultrasonography (US), computed tomography (CT), and magnetic resonance imaging (MRI) are used for diagnosis, Next-Generation Sequencing (NGS) is the gold standard for definitive diagnosis. Treatment approaches primarily consist of supportive methods such as blood pressure control, electrolyte balance, and renal replacement.
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