Hypoaldosteronism pathophysiology: Difference between revisions

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==Genetics==
==Genetics==
*[Disease name] is transmitted in [mode of genetic transmission] pattern.
*Genes involved in the pathogenesis of hypoaldosteronism include mutation in CYP11B2 gene, which is located on chromosome 8q24.
*Genes involved in the pathogenesis of [disease name] include [gene1], [gene2], and [gene3].
*The CYP11B2 gene encodes for the enzyme aldosterone synthase (previously known as corticosterone methyloxidase).
*Mutations in CYP11B2 can lead to:
**Type 1 or corticosterone methyl oxidase type I (CMO I) deficiency: Patients have normal to subnormal levels of 18-hydroxycorticosterone and undetectable levels of aldosterone.
**Type 2 or corticosterone methyl oxidase type II (CMO II) deficiency: Increased levels of 18-hydroxycorticosterone and normal to subnormal levels of aldosterone.
*Aldosterone synthase is a member of the cytochrome P450 family of enzymes.
*The development of [disease name] is the result of multiple genetic mutations.
*The development of [disease name] is the result of multiple genetic mutations.
==Associated Conditions==
==Associated Conditions==



Revision as of 19:10, 14 August 2017

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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

  • Genes involved in the pathogenesis of hypoaldosteronism include mutation in CYP11B2 gene, which is located on chromosome 8q24.
  • The CYP11B2 gene encodes for the enzyme aldosterone synthase (previously known as corticosterone methyloxidase).
  • Mutations in CYP11B2 can lead to:
    • Type 1 or corticosterone methyl oxidase type I (CMO I) deficiency: Patients have normal to subnormal levels of 18-hydroxycorticosterone and undetectable levels of aldosterone.
    • Type 2 or corticosterone methyl oxidase type II (CMO II) deficiency: Increased levels of 18-hydroxycorticosterone and normal to subnormal levels of aldosterone.
  • Aldosterone synthase is a member of the cytochrome P450 family of enzymes.
  • The development of [disease name] is the result of multiple genetic mutations.

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].

References

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