📂 Diseases
focal segmental glomerulosclerosis 5 — Definition
Fokal segmental glomerüloskleroz 5 / focal segmental glomerulosclerosis 5
Focal segmental glomerulosclerosis 5 is a genetic kidney disease characterized by glomerules in the kidneys (segmental) and some glomerules (focal) sclerosis (hardening and formation of wound tissue). This type is often caused by mutations in genes that code structural proteins in cells called podosit and leads to nephrotic syndrome with protein (over protein loss in the urine). The disease is progressive and can cause chronic kidney failure and the last period of kidney disease. The diagnosis is subject to kidney biopsy and genetic tests; immuno suppressive drugs and supporting care among treatment options.
Disease Definition
🔬 Disease Definition
Fokal segmental glomerüloskleroz 5 (FSGS5), böbrek glomerüllerinde skar dokusu oluşumu ile karakterize, genetik bir böbrek hastalığıdır. Otozomal resesif kalıtım gösterir ve ACTN4 gen mutasyonu ile ilişkilidir.
🧬 Causes & Risk Factors
ACTN4 genindeki mutasyonlar, alfa-aktinin-4 proteininin işlevini bozarak podosit hasarına ve glomerüler skleroza yol açar.
🩺 Symptoms & Signs
Proteinüri (idrarda protein kaçağı), nefrotik sendrom (ödem, hipoalbüminemi, hiperlipidemi), hipertansiyon, böbrek fonksiyonlarında ilerleyici azalma.
📋 Diagnostic Methods
Böbrek biyopsisi (fokal segmental glomerüloskleroz bulguları), genetik test (ACTN4 mutasyon analizi), idrar tahlili (proteinüri), kan testleri (kreatinin, albümin).
💊 Treatment Options
Anjiyotensin dönüştürücü enzim inhibitörleri (ACEi) veya anjiyotensin reseptör blokerleri (ARB) ile proteinüri kontrolü, immünosupresif tedavi (kortikosteroidler, kalsinörin inhibitörleri), son dönem böbrek yetmezliğinde diyaliz veya böbrek nakli.
⚠️ Complications
Kronik böbrek hastalığı, son dönem böbrek yetmezliği, nefrotik sendrom komplikasyonları (enfeksiyon, tromboemboli), hipertansiyon.
Frequently Asked Questions
❓ What is Fokal segmental glomerüloskleroz 5?
Fokal segmental glomerüloskleroz 5; focal segmental glomerulosclerosis 5 is a genetic kidney disease characterized by glomerules in the kidneys (segmental) and some glomerules (focal) sclerosis (hardening and formation of wound tissue). This type is often caused by mutations in genes that code structural proteins in cells called podosit and leads to nephrotic syndrome with protein (over protein loss in the urine). The disease is progressive and can cause chronic kidney failure and the last period of kidney disease. The diagnosis is subject to kidney biopsy and genetic tests; immuno suppressive drugs and supporting care among treatment options.
❓ What is focal segmental glomerulosclerosis 5 in Turkish?
The Turkish equivalent of "focal segmental glomerulosclerosis 5" is Fokal segmental glomerüloskleroz 5.
❓ Which medical field is Fokal segmental glomerüloskleroz 5 related to?
This term belongs to the Diseases category.