📂 Diseases
autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome — Definition
Otozomal dominant ailesel hematüri-retinal arteriyoler tortüozite-kontraktür sendromu / autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
This syndrome, which shows autozomal dominant transition, is characterized by microscopic or macroscopic hematur, curvy course of retinal artery roads and joint concipitations. The disease often occurs during childhood or young adulthood and kidney functions are often normal. While retinal torthosis does not cause loss of vision, congestions can lead to joint movement limitation.
Disease Definition
🔬 Disease Definition
Otozomal dominant geçişli, hematüri, retinal arteriyoler tortuozite ve kontraktürlerle karakterize nadir bir sendrom.
🧬 Causes & Risk Factors
COL4A1 genindeki mutasyonlar (kollajen tip IV alfa 1 zinciri) ile ilişkilidir; otozomal dominant kalıtım.
🩺 Symptoms & Signs
Mikroskopik veya makroskopik hematüri, retinal arteriyoler tortuozite, eklem kontraktürleri (özellikle el ve ayaklarda), böbrek yetmezliği, anevrizma riski.
📋 Diagnostic Methods
Klinik bulgular, aile öyküsü, idrar tahlili (hematüri), göz dibi muayenesi, genetik test (COL4A1 mutasyon analizi).
💊 Treatment Options
Semptomatik tedavi; kan basıncı kontrolü (ACE inhibitörleri), böbrek yetmezliğinde diyaliz/transplantasyon, kontraktürler için fizik tedavi.
⚠️ Complications
Kronik böbrek hastalığı, son dönem böbrek yetmezliği, retinal kanama veya görme kaybı, intrakraniyal anevrizma rüptürü.
Frequently Asked Questions
❓ What is Otozomal dominant ailesel hematüri-retinal arteriyoler tortüozite-kontraktür sendromu?
Otozomal dominant ailesel hematüri-retinal arteriyoler tortüozite-kontraktür sendromu; this syndrome, which shows autozomal dominant transition, is characterized by microscopic or macroscopic hematur, curvy course of retinal artery roads and joint concipitations. The disease often occurs during childhood or young adulthood and kidney functions are often normal. While retinal torthosis does not cause loss of vision, congestions can lead to joint movement limitation.
❓ What is autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome in Turkish?
The Turkish equivalent of "autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome" is Otozomal dominant ailesel hematüri-retinal arteriyoler tortüozite-kontraktür sendromu.
❓ Which medical field is Otozomal dominant ailesel hematüri-retinal arteriyoler tortüozite-kontraktür sendromu related to?
This term belongs to the Diseases category.