Analbuminaemia: Difference between revisions
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{{SI}}<br> | |||
{{Infobox medical condition | |||
| name = Analbuminaemia | |||
| image = [[File:Autosomal_recessive_-_en.svg|200px]] | |||
| caption = Analbuminaemia is inherited in an [[autosomal recessive]] pattern. | |||
| field = [[Genetics]] | |||
| synonyms = Congenital analbuminemia | |||
| symptoms = [[Edema]], [[fatigue]], [[hypotension]], [[hyperlipidemia]] | |||
| complications = [[Infections]], [[thrombosis]] | |||
| onset = [[Birth]] | |||
| duration = Lifelong | |||
| causes = Mutations in the [[albumin]] gene | |||
| risks = Family history of the condition | |||
| diagnosis = [[Blood test]], [[genetic testing]] | |||
| differential = [[Nephrotic syndrome]], [[liver disease]] | |||
| treatment = [[Albumin]] infusions, [[dietary management]] | |||
| prognosis = Variable, depends on severity and management | |||
| frequency = Very rare, estimated at less than 1 in 1,000,000 | |||
| deaths = Rare, usually due to complications | |||
}} | |||
{{Short description|A rare genetic disorder affecting albumin production}} | {{Short description|A rare genetic disorder affecting albumin production}} | ||
==Analbuminaemia== | ==Analbuminaemia== | ||
'''Analbuminaemia''' is a rare [[genetic disorder]] characterized by the absence or severe reduction of [[serum albumin]] in the blood. Albumin is a major protein produced by the [[liver]] and plays a crucial role in maintaining the [[oncotic pressure]] of the blood, as well as in the transport of various substances such as hormones, vitamins, and drugs. | '''Analbuminaemia''' is a rare [[genetic disorder]] characterized by the absence or severe reduction of [[serum albumin]] in the blood. Albumin is a major protein produced by the [[liver]] and plays a crucial role in maintaining the [[oncotic pressure]] of the blood, as well as in the transport of various substances such as hormones, vitamins, and drugs. | ||
==Genetics== | ==Genetics== | ||
Analbuminaemia is inherited in an [[autosomal recessive]] manner. This means that an individual must inherit two copies of the mutated gene, one from each parent, to manifest the disorder. The gene responsible for this condition is located on chromosome 4 and is known as the [[albumin]] (ALB) gene. Mutations in the ALB gene lead to the production of non-functional or absent albumin. | Analbuminaemia is inherited in an [[autosomal recessive]] manner. This means that an individual must inherit two copies of the mutated gene, one from each parent, to manifest the disorder. The gene responsible for this condition is located on chromosome 4 and is known as the [[albumin]] (ALB) gene. Mutations in the ALB gene lead to the production of non-functional or absent albumin. | ||
==Pathophysiology== | ==Pathophysiology== | ||
The lack of albumin in the blood leads to a variety of physiological disturbances. Albumin is essential for maintaining the [[colloid osmotic pressure]] of the blood, which helps to keep fluid within the blood vessels. Without sufficient albumin, fluid can leak into the surrounding tissues, leading to [[edema]]. Additionally, albumin serves as a carrier protein for various endogenous and exogenous substances, and its absence can affect the distribution and metabolism of these substances. | The lack of albumin in the blood leads to a variety of physiological disturbances. Albumin is essential for maintaining the [[colloid osmotic pressure]] of the blood, which helps to keep fluid within the blood vessels. Without sufficient albumin, fluid can leak into the surrounding tissues, leading to [[edema]]. Additionally, albumin serves as a carrier protein for various endogenous and exogenous substances, and its absence can affect the distribution and metabolism of these substances. | ||
==Clinical Features== | ==Clinical Features== | ||
Individuals with analbuminaemia may present with mild to moderate [[edema]], [[hypotension]], and fatigue. Despite the absence of albumin, many individuals with this condition are asymptomatic or have only mild symptoms, as other proteins in the blood can partially compensate for the lack of albumin. | Individuals with analbuminaemia may present with mild to moderate [[edema]], [[hypotension]], and fatigue. Despite the absence of albumin, many individuals with this condition are asymptomatic or have only mild symptoms, as other proteins in the blood can partially compensate for the lack of albumin. | ||
==Diagnosis== | ==Diagnosis== | ||
The diagnosis of analbuminaemia is typically made through laboratory tests that measure the levels of albumin in the blood. Genetic testing can confirm the diagnosis by identifying mutations in the ALB gene. | The diagnosis of analbuminaemia is typically made through laboratory tests that measure the levels of albumin in the blood. Genetic testing can confirm the diagnosis by identifying mutations in the ALB gene. | ||
==Management== | ==Management== | ||
There is no specific treatment for analbuminaemia. Management focuses on addressing symptoms and preventing complications. This may include dietary modifications, the use of diuretics to manage edema, and careful monitoring of drug levels due to altered pharmacokinetics. | There is no specific treatment for analbuminaemia. Management focuses on addressing symptoms and preventing complications. This may include dietary modifications, the use of diuretics to manage edema, and careful monitoring of drug levels due to altered pharmacokinetics. | ||
==Prognosis== | ==Prognosis== | ||
The prognosis for individuals with analbuminaemia is generally good, as many affected individuals lead normal lives with minimal symptoms. However, they may be at increased risk for certain complications, such as infections or cardiovascular issues, due to the altered distribution of substances in the blood. | The prognosis for individuals with analbuminaemia is generally good, as many affected individuals lead normal lives with minimal symptoms. However, they may be at increased risk for certain complications, such as infections or cardiovascular issues, due to the altered distribution of substances in the blood. | ||
==Related pages== | ==Related pages== | ||
* [[Albumin]] | * [[Albumin]] | ||
| Line 29: | Line 39: | ||
* [[Autosomal recessive]] | * [[Autosomal recessive]] | ||
* [[Edema]] | * [[Edema]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
Latest revision as of 13:54, 4 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Analbuminaemia | |
|---|---|
| |
| Synonyms | Congenital analbuminemia |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Edema, fatigue, hypotension, hyperlipidemia |
| Complications | Infections, thrombosis |
| Onset | Birth |
| Duration | Lifelong |
| Types | N/A |
| Causes | Mutations in the albumin gene |
| Risks | Family history of the condition |
| Diagnosis | Blood test, genetic testing |
| Differential diagnosis | Nephrotic syndrome, liver disease |
| Prevention | N/A |
| Treatment | Albumin infusions, dietary management |
| Medication | N/A |
| Prognosis | Variable, depends on severity and management |
| Frequency | Very rare, estimated at less than 1 in 1,000,000 |
| Deaths | Rare, usually due to complications |
A rare genetic disorder affecting albumin production
Analbuminaemia[edit]
Analbuminaemia is a rare genetic disorder characterized by the absence or severe reduction of serum albumin in the blood. Albumin is a major protein produced by the liver and plays a crucial role in maintaining the oncotic pressure of the blood, as well as in the transport of various substances such as hormones, vitamins, and drugs.
Genetics[edit]
Analbuminaemia is inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the mutated gene, one from each parent, to manifest the disorder. The gene responsible for this condition is located on chromosome 4 and is known as the albumin (ALB) gene. Mutations in the ALB gene lead to the production of non-functional or absent albumin.
Pathophysiology[edit]
The lack of albumin in the blood leads to a variety of physiological disturbances. Albumin is essential for maintaining the colloid osmotic pressure of the blood, which helps to keep fluid within the blood vessels. Without sufficient albumin, fluid can leak into the surrounding tissues, leading to edema. Additionally, albumin serves as a carrier protein for various endogenous and exogenous substances, and its absence can affect the distribution and metabolism of these substances.
Clinical Features[edit]
Individuals with analbuminaemia may present with mild to moderate edema, hypotension, and fatigue. Despite the absence of albumin, many individuals with this condition are asymptomatic or have only mild symptoms, as other proteins in the blood can partially compensate for the lack of albumin.
Diagnosis[edit]
The diagnosis of analbuminaemia is typically made through laboratory tests that measure the levels of albumin in the blood. Genetic testing can confirm the diagnosis by identifying mutations in the ALB gene.
Management[edit]
There is no specific treatment for analbuminaemia. Management focuses on addressing symptoms and preventing complications. This may include dietary modifications, the use of diuretics to manage edema, and careful monitoring of drug levels due to altered pharmacokinetics.
Prognosis[edit]
The prognosis for individuals with analbuminaemia is generally good, as many affected individuals lead normal lives with minimal symptoms. However, they may be at increased risk for certain complications, such as infections or cardiovascular issues, due to the altered distribution of substances in the blood.
