📂 Diseases
Sensenbrenner syndrome — Definition
Sensenbrenner sendromu / Sensenbrenner syndrome
Sensenbrenner syndrome is a genetic disorder that is rare, known as cloyoektodermal dysplasia. The disease is characterized by kidney failure, skeleton anomalies (short ribs, narrow chest cage) and extodermal findings (hair, tooth anomalies). Basically IFT122 is welded from mutations in WDR35 or WDR19 genes and is associated with primary eraser dysfunction. The clinical course may lead to the last period of early childhood, depending on the kidney arrest.
Disease Definition
🔬 Disease Definition
Sensenbrenner sendromu, kranyoektodermal displazi olarak da bilinen, nadir görülen otozomal resesif geçişli bir genetik hastalıktır. Temel olarak böbrek, iskelet, saç, diş ve karaciğer anomalileri ile karakterizedir.
🧬 Causes & Risk Factors
IFT122, WDR35, WDR19, IFT140, IFT43 gibi genlerdeki mutasyonlar sonucu oluşur. Bu genler, hücre içi taşıma ve silya fonksiyonlarında rol oynar.
🩺 Symptoms & Signs
Kraniyosinostoz, hipertelorizm, seyrek saç, diş anomalileri, nefronofizis, böbrek yetmezliği, karaciğer fibrozu, iskelet displazisi, polidaktili ve gelişme geriliği.
📋 Diagnostic Methods
Klinik bulgular, radyolojik görüntüleme (kraniyal ve iskelet), böbrek biyopsisi ve genetik testler (IFT gen mutasyon analizi) ile konur.
💊 Treatment Options
Semptomatik ve destekleyici tedavi uygulanır. Böbrek yetmezliği için diyaliz veya transplantasyon, kraniyosinostoz için cerrahi, karaciğer fibrozu için takip ve gerektiğinde transplantasyon.
⚠️ Complications
Kronik böbrek yetmezliği, karaciğer sirozu, hipertansiyon, büyüme geriliği, nörolojik sorunlar ve görme/işitme kaybı.
Frequently Asked Questions
❓ What is Sensenbrenner sendromu?
Sensenbrenner sendromu; sensenbrenner syndrome is a genetic disorder that is rare, known as cloyoektodermal dysplasia. The disease is characterized by kidney failure, skeleton anomalies (short ribs, narrow chest cage) and extodermal findings (hair, tooth anomalies). Basically IFT122 is welded from mutations in WDR35 or WDR19 genes and is associated with primary eraser dysfunction. The clinical course may lead to the last period of early childhood, depending on the kidney arrest.
❓ What is Sensenbrenner syndrome in Turkish?
The Turkish equivalent of "Sensenbrenner syndrome" is Sensenbrenner sendromu.
❓ Which medical field is Sensenbrenner sendromu related to?
This term belongs to the Diseases category.