Paroxysmal nocturnal hemoglobinuria pathophysiology: Difference between revisions
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==Pathophysiology== | ==Pathophysiology== | ||
===Physiology=== | ===Physiology=== | ||
* Normally, Red Blood Cells (RBCs) alike | * Normally, Red Blood Cells (RBCs), alike other cells in the body, have surface proteins that acts as a communicating signal between the cells and the environment. | ||
* The signaling proteins are most commonly attached to the surface of the RBCs by glycolipids. The most common glycolipid is the glycosyl phosphatidylinositols (GPI). | * The signaling proteins are most commonly attached to the surface of the RBCs by glycolipids. The most common glycolipid is the glycosyl phosphatidylinositols (GPI). | ||
* The attached proteins are also protective to the cells against destruction by the complement system.<ref name="pmid16051736">{{cite journal| author=Parker C, Omine M, Richards S, Nishimura J, Bessler M, Ware R et al.| title=Diagnosis and management of paroxysmal nocturnal hemoglobinuria. | journal=Blood | year= 2005 | volume= 106 | issue= 12 | pages= 3699-709 | pmid=16051736 | doi=10.1182/blood-2005-04-1717 | pmc=1895106 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16051736 }}</ref> | * The attached proteins are also protective to the cells against destruction by the complement system.<ref name="pmid16051736">{{cite journal| author=Parker C, Omine M, Richards S, Nishimura J, Bessler M, Ware R et al.| title=Diagnosis and management of paroxysmal nocturnal hemoglobinuria. | journal=Blood | year= 2005 | volume= 106 | issue= 12 | pages= 3699-709 | pmid=16051736 | doi=10.1182/blood-2005-04-1717 | pmc=1895106 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16051736 }}</ref> | ||
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===Pathogenesis=== | ===Pathogenesis=== | ||
*It is understood that paroxysmal nocturnal hemoglobinuria is caused by genetic mutation and complement mediated hemolysis. | |||
*It is understood that | ==== Genetic mutation and PNH ==== | ||
* | |||
* | |||
==Genetics== | ==Genetics== | ||
Revision as of 15:22, 15 August 2018
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
Pathophysiology
Physiology
- Normally, Red Blood Cells (RBCs), alike other cells in the body, have surface proteins that acts as a communicating signal between the cells and the environment.
- The signaling proteins are most commonly attached to the surface of the RBCs by glycolipids. The most common glycolipid is the glycosyl phosphatidylinositols (GPI).
- The attached proteins are also protective to the cells against destruction by the complement system.[1]
- The RBCs are mainly protected by proteins called decay accelerating factor (DAF/CD55). The DAF or CD55 proteins prevent the formation of C3-convertase enzyme, the protectin (CD59), and the C9 which are components of the complement inflammatory system.[2]
Pathogenesis
- It is understood that paroxysmal nocturnal hemoglobinuria is caused by genetic mutation and complement mediated hemolysis.
Genetic mutation and PNH
Genetics
Genes involved in the pathogenesis of paroxysmal nocturnal hemoglobinuria include:[3]
- PIGA gene
- TET2
- SUZ12
- U2AF1
- JAK2
Associated Conditions
- However, paroxysmal nocturnal hemoglobinuria is usually associated with the following diseases:[4]
- Aplastic anemia
- Myelodysplastic anemia
- Acute myelogenous anemia
Microscopic Pathology
On microscopic histopathological analysis, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].
References
- ↑ Parker C, Omine M, Richards S, Nishimura J, Bessler M, Ware R; et al. (2005). "Diagnosis and management of paroxysmal nocturnal hemoglobinuria". Blood. 106 (12): 3699–709. doi:10.1182/blood-2005-04-1717. PMC 1895106. PMID 16051736.
- ↑ Parker C, Omine M, Richards S, Nishimura J, Bessler M, Ware R; et al. (2005). "Diagnosis and management of paroxysmal nocturnal hemoglobinuria". Blood. 106 (12): 3699–709. doi:10.1182/blood-2005-04-1717. PMC 1895106. PMID 16051736.
- ↑ Shen W, Clemente MJ, Hosono N, Yoshida K, Przychodzen B, Yoshizato T; et al. (2014). "Deep sequencing reveals stepwise mutation acquisition in paroxysmal nocturnal hemoglobinuria". J Clin Invest. 124 (10): 4529–38. doi:10.1172/JCI74747. PMC 4191017. PMID 25244093.
- ↑ Brodsky RA (2014). "Paroxysmal nocturnal hemoglobinuria". Blood. 124 (18): 2804–11. doi:10.1182/blood-2014-02-522128. PMC 4215311. PMID 25237200.