Paroxysmal nocturnal hemoglobinuria causes: Difference between revisions
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{{ Paroxysmal nocturnal hemoglobinuria }} | {{Paroxysmal nocturnal hemoglobinuria}} | ||
{{CMG}}; {{AE}} {{AEL}} | |||
==Overview== | ==Overview== | ||
Common causes of paroxysmal nocturnal hemoglobinuria include a somatic mutation in the PIGA gene. Other causes include mutations in genes of TET2, SUZ12, U2AF1, and JAK2. | |||
==Causes== | ==Causes== | ||
===Life-threatening Causes=== | |||
*Life-threatening causes include conditions which may result in death or permanent disability within 24 hours if left untreated. There are no life-threatening causes of paroxysmal nocturnal hemoglobinuria, however complications resulting from untreated [[disease name]] is common. | |||
===Genetic Causes=== | |||
*Paroxysmal nocturnal hemoglobinuria is caused by a somatic mutation in the ''PIGA'' gene. The PIGA gene normally encodes phosphatidylinositol glycan class A.<ref name="pmid25237200">{{cite journal| author=Brodsky RA| title=Paroxysmal nocturnal hemoglobinuria. | journal=Blood | year= 2014 | volume= 124 | issue= 18 | pages= 2804-11 | pmid=25237200 | doi=10.1182/blood-2014-02-522128 | pmc=4215311 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25237200 }}</ref> | |||
*Other gene mutations associated with paroxysmal nocturnal hemoglobinuria include the following genes:<ref name="pmid25244093">{{cite journal| author=Shen W, Clemente MJ, Hosono N, Yoshida K, Przychodzen B, Yoshizato T et al.| title=Deep sequencing reveals stepwise mutation acquisition in paroxysmal nocturnal hemoglobinuria. | journal=J Clin Invest | year= 2014 | volume= 124 | issue= 10 | pages= 4529-38 | pmid=25244093 | doi=10.1172/JCI74747 | pmc=4191017 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25244093 }}</ref> | |||
**''TET2'' | |||
**''SUZ12'' | |||
**''U2AF1'' | |||
**''JAK2'' | |||
===Causes by Organ System=== | |||
{| style="width:80%; height:100px" border="1" | |||
| style="width:25%" bgcolor="LightSteelBlue" ; border="1" |'''Cardiovascular''' | |||
| style="width:75%" bgcolor="Beige" ; border="1" | No underlying causes | |||
|- | |||
| bgcolor="LightSteelBlue" | '''Chemical/Poisoning''' | |||
| bgcolor="Beige" | No underlying causes | |||
|- | |||
|- bgcolor="LightSteelBlue" | |||
| '''Dental''' | |||
| bgcolor="Beige" | No underlying causes | |||
|- | |||
|- bgcolor="LightSteelBlue" | |||
| '''Dermatologic''' | |||
| bgcolor="Beige" | No underlying causes | |||
|- | |||
|- bgcolor="LightSteelBlue" | |||
| '''Drug Side Effect''' | |||
| bgcolor="Beige" | No underlying causes | |||
|- | |||
|- bgcolor="LightSteelBlue" | |||
| '''Ear Nose Throat''' | |||
| bgcolor="Beige" | No underlying causes | |||
|- | |||
|- bgcolor="LightSteelBlue" | |||
| '''Endocrine''' | |||
| bgcolor="Beige" | No underlying causes | |||
|- | |||
|- bgcolor="LightSteelBlue" | |||
| '''Environmental''' | |||
| bgcolor="Beige" | No underlying causes | |||
|- | |||
|- bgcolor="LightSteelBlue" | |||
| '''Gastroenterologic''' | |||
| bgcolor="Beige" | No underlying causes | |||
|- | |||
|- bgcolor="LightSteelBlue" | |||
| '''Genetic''' | |||
| bgcolor="Beige" | No underlying causes | |||
|- | |||
|- bgcolor="LightSteelBlue" | |||
| '''Hematologic''' | |||
| bgcolor="Beige" | No underlying causes | |||
|- | |||
|- bgcolor="LightSteelBlue" | |||
| '''Iatrogenic''' | |||
| bgcolor="Beige" | No underlying causes | |||
|- | |||
|- bgcolor="LightSteelBlue" | |||
| '''Infectious Disease''' | |||
| bgcolor="Beige" | No underlying causes | |||
|- | |||
|- bgcolor="LightSteelBlue" | |||
| '''Musculoskeletal/Orthopedic''' | |||
| bgcolor="Beige" | No underlying causes | |||
|- | |||
|- bgcolor="LightSteelBlue" | |||
| '''Neurologic''' | |||
| bgcolor="Beige" | No underlying causes | |||
|- | |||
|- bgcolor="LightSteelBlue" | |||
| '''Nutritional/Metabolic''' | |||
| bgcolor="Beige" | No underlying causes | |||
|- | |||
|- bgcolor="LightSteelBlue" | |||
| '''Obstetric/Gynecologic''' | |||
| bgcolor="Beige" | No underlying causes | |||
|- | |||
|- bgcolor="LightSteelBlue" | |||
| '''Oncologic''' | |||
| bgcolor="Beige" | No underlying causes | |||
|- | |||
|- bgcolor="LightSteelBlue" | |||
| '''Ophthalmologic''' | |||
| bgcolor="Beige" | No underlying causes | |||
|- | |||
|- bgcolor="LightSteelBlue" | |||
| '''Overdose/Toxicity''' | |||
| bgcolor="Beige" | No underlying causes | |||
|- | |||
|- bgcolor="LightSteelBlue" | |||
| '''Psychiatric''' | |||
| bgcolor="Beige" | No underlying causes | |||
|- | |||
|- bgcolor="LightSteelBlue" | |||
| '''Pulmonary''' | |||
| bgcolor="Beige" | No underlying causes | |||
|- | |||
|- bgcolor="LightSteelBlue" | |||
| '''Renal/Electrolyte''' | |||
| bgcolor="Beige" | No underlying causes | |||
|- | |||
|- bgcolor="LightSteelBlue" | |||
| '''Rheumatology/Immunology/Allergy''' | |||
| bgcolor="Beige" | No underlying causes | |||
|- | |||
|- bgcolor="LightSteelBlue" | |||
| '''Sexual''' | |||
| bgcolor="Beige" | No underlying causes | |||
|- | |||
|- bgcolor="LightSteelBlue" | |||
| '''Trauma''' | |||
| bgcolor="Beige" | No underlying causes | |||
|- | |||
|- bgcolor="LightSteelBlue" | |||
| '''Urologic''' | |||
| bgcolor="Beige" | No underlying causes | |||
|- | |||
|- bgcolor="LightSteelBlue" | |||
| '''Miscellaneous''' | |||
| bgcolor="Beige" | No underlying causes | |||
|- | |||
|}<div style="-moz-column-count:3; column-count:3;"> | |||
* | |||
</div> | |||
==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
{{WH}} | {{WH}} | ||
{{WS}} | {{WS}} | ||
[[Category: (name of the system)]] |
Latest revision as of 17:16, 22 August 2018
Paroxysmal nocturnal hemoglobinuria Microchapters |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ahmed Elsaiey, MBBCH [2]
Overview
Common causes of paroxysmal nocturnal hemoglobinuria include a somatic mutation in the PIGA gene. Other causes include mutations in genes of TET2, SUZ12, U2AF1, and JAK2.
Causes
Life-threatening Causes
- Life-threatening causes include conditions which may result in death or permanent disability within 24 hours if left untreated. There are no life-threatening causes of paroxysmal nocturnal hemoglobinuria, however complications resulting from untreated disease name is common.
Genetic Causes
- Paroxysmal nocturnal hemoglobinuria is caused by a somatic mutation in the PIGA gene. The PIGA gene normally encodes phosphatidylinositol glycan class A.[1]
- Other gene mutations associated with paroxysmal nocturnal hemoglobinuria include the following genes:[2]
- TET2
- SUZ12
- U2AF1
- JAK2
Causes by Organ System
Cardiovascular | No underlying causes |
Chemical/Poisoning | No underlying causes |
Dental | No underlying causes |
Dermatologic | No underlying causes |
Drug Side Effect | No underlying causes |
Ear Nose Throat | No underlying causes |
Endocrine | No underlying causes |
Environmental | No underlying causes |
Gastroenterologic | No underlying causes |
Genetic | No underlying causes |
Hematologic | No underlying causes |
Iatrogenic | No underlying causes |
Infectious Disease | No underlying causes |
Musculoskeletal/Orthopedic | No underlying causes |
Neurologic | No underlying causes |
Nutritional/Metabolic | No underlying causes |
Obstetric/Gynecologic | No underlying causes |
Oncologic | No underlying causes |
Ophthalmologic | No underlying causes |
Overdose/Toxicity | No underlying causes |
Psychiatric | No underlying causes |
Pulmonary | No underlying causes |
Renal/Electrolyte | No underlying causes |
Rheumatology/Immunology/Allergy | No underlying causes |
Sexual | No underlying causes |
Trauma | No underlying causes |
Urologic | No underlying causes |
Miscellaneous | No underlying causes |
References
- ↑ Brodsky RA (2014). "Paroxysmal nocturnal hemoglobinuria". Blood. 124 (18): 2804–11. doi:10.1182/blood-2014-02-522128. PMC 4215311. PMID 25237200.
- ↑ 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.