Hemolytic Anemias- Part 7: Paroxysmal nocturnal hemoglobinuria (PNH)
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- Опубліковано 11 чер 2024
- #ilovepathology #hemolyticanemia #pathology #medicalschoolpathology #pathology
Definition: Paroxysmal nocturnal hemoglobinuria (PNH) is a disease that results from acquired mutations in the phosphatidylinositol glycan complementation group A gene (PIGA), an enzyme that is essential for the synthesis of certain membrane-associated complement regulatory protein
Typical Clinical Triad: Intravascular hemolysis, Bone marrow failure, and propensity to Thromboembolism
History and Epidemiology: first described in the 18th century. It is a rare disease, with a worldwide prevalence estimated in the range of 1-5 cases per million regardless of ethnicity; an increased prevalence is reported in some regions which also harbor higher incidence of aplastic anemia (eg, Thailand and some other Asian countries)
Unique feature: only hemolytic anemia caused by an acquired genetic defect
Pathophysiology:
Somatic mutation in the Phosphatidylinositol glycan complement group A gene(PIGA gene)
[Cause: PIGA is X-linked and subject to lyonization (random inactivation of one X chromosome in cells of females) leading to a single acquired mutation in the active PIGA gene of any given cell]
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Deficient specialized phospholipid called glycosylphosphatidylinositol (GPI) linked protein in a hematopoetic stem cell
PNH blood cells are deficient in three GPI-linked proteins that regulate complement activity:
(1) Decay-accelerating factor or CD55
(2) Membrane inhibitor of reactive lysis or CD59
Very concise and to the point explanation 👍👍
best lecture..thank you so much. may you be blessed with much more
Very comprehensive and concise explanation 👍
Thank you 😊
A great lecture ..everything is clear
Thank you 😊
Great explanation
Wonderful explanation
Great
Thank you so much sir 🙏 and happy dussera.
Thank you 😊 wish you the same 😊
can we have the slides
👍
Hello sir , please just a question for clarification sake in 16:11 you mentioned Methemoglbin but wrote methealbumin on the screen. Please which is correct. Thank you again for your Great work. God bless you for teaching and sharing ❤❤❤❤
Thats a great find! mistake from my side!
it is methheamalbumin as written on the slide..This complex has a brownish color and is a more relevant factor in the brown tint of plasma in PNH.
@@ilovepathologyVijayPatho Awesome, thank you very much. Really helpful, would update my notes 🙏🏾🙏🏾🙏🏾🙏🏾🙏🏾
Sir what is solution pnh 😢
Piga gene on x chromos then u said its on 10 chromosome ...confused
𝓅𝓇o𝓂o𝓈𝓂 ☀️
Great explanation
Thank you 😊