Hypoaldosteronism pathophysiology: Difference between revisions
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==Genetics== | ==Genetics== | ||
*Gene involved in the pathogenesis of hypoaldosteronism include mutation in CYP11B2 gene, which is located on chromosome 8q24. | *Gene involved in the pathogenesis of hypoaldosteronism include mutation in CYP11B2 gene, which is located on chromosome 8q24. | ||
*Mutation in CYP11B2 gene is transmitted in autosomal recessive pattern. | |||
*The CYP11B2 gene encodes for the enzyme aldosterone synthase (previously known as corticosterone methyloxidase). | *The CYP11B2 gene encodes for the enzyme aldosterone synthase (previously known as corticosterone methyloxidase). | ||
*Aldosterone synthase catalyses the conversion of | *Aldosterone synthase catalyses the conversion of 11 Deoxycorticosterone to aldosterone | ||
{{Family tree/start}} | {{Family tree/start}} | ||
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{{Family tree | | | | D01 | | | |D01= Aldosterone}} | {{Family tree | | | | D01 | | | |D01= Aldosterone}} | ||
{{Family tree/end}} | {{Family tree/end}} | ||
*Mutations in CYP11B2 can lead to: | *Mutations in CYP11B2 can lead to: | ||
Revision as of 00:46, 15 August 2017
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Hypoaldosteronism Microchapters |
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Diagnosis |
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Treatment |
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Hypoaldosteronism pathophysiology On the Web |
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American Roentgen Ray Society Images of Hypoaldosteronism pathophysiology |
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Risk calculators and risk factors for Hypoaldosteronism pathophysiology |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
The exact pathogenesis of [disease name] is not fully understood.
OR
It is thought that [disease name] is the result of / is mediated by / is produced by / is caused by either [hypothesis 1], [hypothesis 2], or [hypothesis 3].
OR
[Pathogen name] is usually transmitted via the [transmission route] route to the human host.
OR
Following transmission/ingestion, the [pathogen] uses the [entry site] to invade the [cell name] cell.
OR
[Disease or malignancy name] arises from [cell name]s, which are [cell type] cells that are normally involved in [function of cells].
OR
The progression to [disease name] usually involves the [molecular pathway].
OR
The pathophysiology of [disease/malignancy] depends on the histological subtype.
Pathophysiology
Hypoaldosteronism is defined as decreased levels of the hormone aldosterone (Normal range: 1-21 ng/dL). Hypoaldosteronism from decreased aldosterone synthesis can be due to :
- Adrenal Insufficiency: Primary or secondary
- Enzyme deficiency: Aldosterone synthase, 21 hydroxylase, and 11B hydroxylase
- Renal disorders: Chronic renal failure and diabetic nephropathy
- Drugs inhibiting aldosterone effect: NSAID, spironolactone, and triamterene
Pathophysiology
Pathogenesis
- The exact pathogenesis of [disease name] is not fully understood.
OR
- It is thought that [disease name] is the result of / is mediated by / is produced by / is caused by either [hypothesis 1], [hypothesis 2], or [hypothesis 3].
- [Pathogen name] is usually transmitted via the [transmission route] route to the human host.
- Following transmission/ingestion, the [pathogen] uses the [entry site] to invade the [cell name] cell.
- [Disease or malignancy name] arises from [cell name]s, which are [cell type] cells that are normally involved in [function of cells].
- The progression to [disease name] usually involves the [molecular pathway].
- The pathophysiology of [disease/malignancy] depends on the histological subtype.
Genetics
- Gene involved in the pathogenesis of hypoaldosteronism include mutation in CYP11B2 gene, which is located on chromosome 8q24.
- Mutation in CYP11B2 gene is transmitted in autosomal recessive pattern.
- The CYP11B2 gene encodes for the enzyme aldosterone synthase (previously known as corticosterone methyloxidase).
- Aldosterone synthase catalyses the conversion of 11 Deoxycorticosterone to aldosterone
| 11 Deoxycorticosterone | |||||||||||||||||||
| Corticosterone | |||||||||||||||||||
| 18 Hydroxycorticosterone | |||||||||||||||||||
| Aldosterone | |||||||||||||||||||
- Mutations in CYP11B2 can lead to:
- Type 1 aldosterone synthase deficiency: Patients has normal to decreased levels of 18-hydroxycorticosterone and undetectable levels of aldosterone.
- Type 2 aldosterone synthase deficiency: Patients has increased levels of 18-hydroxycorticosterone and normal to decreased levels of aldosterone.
- Aldosterone synthase is a member of the cytochrome P450 family of enzymes.
Associated Conditions
Gross Pathology
- On gross pathology, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].
Microscopic Pathology
- On microscopic histopathological analysis, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].