📂 Diseases
platelet-type bleeding disorder 18 — Definition
Trombosit Tipi Kanama Bozukluğu 18 / platelet-type bleeding disorder 18
Platelet Type bleeding Disorder 18 is a rare hereditary bleeding disease that occurs depending on the dysfunction of dysfunction of platelets. The disease is often caused by defects in adhesion and aggregate capabilities, which is necessary in the process of clotting of platelets. Clinically, in patients with mild to moderate severity of mucus bleeding (heror bleeding, gum bleeding, easy bruising) and excessive bleeding trend after trauma occurs. It is verified by diagnostic, platelet function tests and genetic analysis.
Disease Definition
🔬 Disease Definition
Platelet-type bleeding disorder 18 (PTBD18), trombosit fonksiyon bozukluğu ile karakterize nadir bir kanama bozukluğudur. Genellikle otozomal resesif kalıtım gösterir.
🧬 Causes & Risk Factors
PTBD18, genellikle RASGRP2 genindeki mutasyonlardan kaynaklanır. Bu gen, trombosit aktivasyonunda rol oynayan bir proteinin üretiminden sorumludur.
🩺 Symptoms & Signs
Hafif ila orta şiddette kanama eğilimi, kolay morarma, burun kanaması, diş eti kanaması, uzamış kanama süresi, menoraji ve travma sonrası aşırı kanama.
📋 Diagnostic Methods
Tam kan sayımı, periferik yayma, kanama zamanı testi, trombosit agregasyon testleri, akım sitometrisi ve genetik testler (RASGRP2 gen mutasyon analizi).
💊 Treatment Options
Kanama durumunda lokal hemostatik önlemler, desmopressin (DDAVP), antifibrinolitik ajanlar (traneksamik asit), gerektiğinde trombosit transfüzyonu. Ağır vakalarda rekombinant faktör VIIa.
⚠️ Complications
Kronik anemi, demir eksikliği, travma veya cerrahi sonrası kontrol edilemeyen kanama, nadiren intrakraniyal kanama.
Frequently Asked Questions
❓ What is Trombosit Tipi Kanama Bozukluğu 18?
Trombosit Tipi Kanama Bozukluğu 18; platelet Type bleeding Disorder 18 is a rare hereditary bleeding disease that occurs depending on the dysfunction of dysfunction of platelets. The disease is often caused by defects in adhesion and aggregate capabilities, which is necessary in the process of clotting of platelets. Clinically, in patients with mild to moderate severity of mucus bleeding (heror bleeding, gum bleeding, easy bruising) and excessive bleeding trend after trauma occurs. It is verified by diagnostic, platelet function tests and genetic analysis.
❓ What is platelet-type bleeding disorder 18 in Turkish?
The Turkish equivalent of "platelet-type bleeding disorder 18" is Trombosit Tipi Kanama Bozukluğu 18.
❓ Which medical field is Trombosit Tipi Kanama Bozukluğu 18 related to?
This term belongs to the Diseases category.