Pseudocholinesterase deficiency: Difference between revisions
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{{Infobox medical condition | |||
| name = Pseudocholinesterase deficiency | |||
| synonyms = Butyrylcholinesterase deficiency, Plasma cholinesterase deficiency | |||
| field = [[Anesthesiology]], [[Genetics]] | |||
| symptoms = Prolonged [[muscle relaxation]], [[apnea]] | |||
| complications = [[Respiratory failure]], [[prolonged paralysis]] | |||
| onset = [[Congenital]] | |||
| duration = Variable, depending on exposure to triggering agents | |||
| causes = [[Genetic mutation]] in the [[BCHE]] gene | |||
| risks = [[Family history]], [[genetic predisposition]] | |||
| diagnosis = [[Dibucaine number]] test, [[genetic testing]] | |||
| differential = [[Myasthenia gravis]], [[Lambert-Eaton myasthenic syndrome]] | |||
| treatment = Supportive care, [[mechanical ventilation]] if needed | |||
| medication = Avoidance of [[succinylcholine]] and [[mivacurium]] | |||
| frequency = 1 in 3,200 to 1 in 5,000 individuals | |||
| deaths = Rare, if managed appropriately | |||
}} | |||
'''Pseudocholinesterase deficiency''' is a medical condition that is characterized by an atypical reaction to certain drugs used during general anesthesia, such as the muscle relaxants succinylcholine and mivacurium as well as certain ester local anesthetics. The condition is inherited in an autosomal recessive manner. This means the deficient individual must have two copies of the abnormal gene for the disease to develop. | '''Pseudocholinesterase deficiency''' is a medical condition that is characterized by an atypical reaction to certain drugs used during general anesthesia, such as the muscle relaxants succinylcholine and mivacurium as well as certain ester local anesthetics. The condition is inherited in an autosomal recessive manner. This means the deficient individual must have two copies of the abnormal gene for the disease to develop. | ||
== Signs and Symptoms == | == Signs and Symptoms == | ||
The primary sign of pseudocholinesterase deficiency is an extended period of muscle paralysis or weakness following the administration of anesthesia. This can lead to difficulty breathing if the muscles that control breathing are affected. | The primary sign of pseudocholinesterase deficiency is an extended period of muscle paralysis or weakness following the administration of anesthesia. This can lead to difficulty breathing if the muscles that control breathing are affected. | ||
== Causes == | == Causes == | ||
Pseudocholinesterase deficiency is caused by a mutation in the BCHE gene. This gene provides instructions for making a protein called butyrylcholinesterase, which is responsible for breaking down certain drugs used during general anesthesia. | Pseudocholinesterase deficiency is caused by a mutation in the BCHE gene. This gene provides instructions for making a protein called butyrylcholinesterase, which is responsible for breaking down certain drugs used during general anesthesia. | ||
== Diagnosis == | == Diagnosis == | ||
The diagnosis of pseudocholinesterase deficiency usually occurs after a person has had a reaction to anesthesia. Blood tests can be done to measure the level of pseudocholinesterase in the blood. | The diagnosis of pseudocholinesterase deficiency usually occurs after a person has had a reaction to anesthesia. Blood tests can be done to measure the level of pseudocholinesterase in the blood. | ||
== Treatment == | == Treatment == | ||
There is no cure for pseudocholinesterase deficiency. Management of the condition involves avoiding certain drugs that can cause a reaction. In cases where these drugs have been administered, mechanical ventilation may be required to assist with breathing until the drugs have been metabolically cleared. | There is no cure for pseudocholinesterase deficiency. Management of the condition involves avoiding certain drugs that can cause a reaction. In cases where these drugs have been administered, mechanical ventilation may be required to assist with breathing until the drugs have been metabolically cleared. | ||
== See Also == | == See Also == | ||
* [[Anesthesia]] | * [[Anesthesia]] | ||
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* [[BCHE gene]] | * [[BCHE gene]] | ||
* [[Autosomal recessive inheritance]] | * [[Autosomal recessive inheritance]] | ||
== References == | == References == | ||
<references /> | <references /> | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Anesthesia]] | [[Category:Anesthesia]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
{{stub}} | {{stub}} | ||
{{No image}} | {{No image}} | ||
Latest revision as of 23:13, 3 April 2025
| Pseudocholinesterase deficiency | |
|---|---|
| Synonyms | Butyrylcholinesterase deficiency, Plasma cholinesterase deficiency |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Prolonged muscle relaxation, apnea |
| Complications | Respiratory failure, prolonged paralysis |
| Onset | Congenital |
| Duration | Variable, depending on exposure to triggering agents |
| Types | N/A |
| Causes | Genetic mutation in the BCHE gene |
| Risks | Family history, genetic predisposition |
| Diagnosis | Dibucaine number test, genetic testing |
| Differential diagnosis | Myasthenia gravis, Lambert-Eaton myasthenic syndrome |
| Prevention | N/A |
| Treatment | Supportive care, mechanical ventilation if needed |
| Medication | Avoidance of succinylcholine and mivacurium |
| Prognosis | N/A |
| Frequency | 1 in 3,200 to 1 in 5,000 individuals |
| Deaths | Rare, if managed appropriately |
Pseudocholinesterase deficiency is a medical condition that is characterized by an atypical reaction to certain drugs used during general anesthesia, such as the muscle relaxants succinylcholine and mivacurium as well as certain ester local anesthetics. The condition is inherited in an autosomal recessive manner. This means the deficient individual must have two copies of the abnormal gene for the disease to develop.
Signs and Symptoms[edit]
The primary sign of pseudocholinesterase deficiency is an extended period of muscle paralysis or weakness following the administration of anesthesia. This can lead to difficulty breathing if the muscles that control breathing are affected.
Causes[edit]
Pseudocholinesterase deficiency is caused by a mutation in the BCHE gene. This gene provides instructions for making a protein called butyrylcholinesterase, which is responsible for breaking down certain drugs used during general anesthesia.
Diagnosis[edit]
The diagnosis of pseudocholinesterase deficiency usually occurs after a person has had a reaction to anesthesia. Blood tests can be done to measure the level of pseudocholinesterase in the blood.
Treatment[edit]
There is no cure for pseudocholinesterase deficiency. Management of the condition involves avoiding certain drugs that can cause a reaction. In cases where these drugs have been administered, mechanical ventilation may be required to assist with breathing until the drugs have been metabolically cleared.
See Also[edit]
References[edit]
<references />
