Aldosterone Deficiency Disorder

Aldosterone Deficiency Disorder

Article
Digestive Health
Kidney & Bladder Health
+4
Contributed byMaulik P. Purohit MD MPHNov 06, 2020

The topic Aldosterone Deficiency Disorder you are seeking is a synonym, or alternative name, or is closely related to the medical condition Corticosterone Methyloxidase Deficiency Disorder.

Quick Summary:

  • Corticosterone Methyloxidase Deficiency Disorder is a rare genetic disorder. This disorder is reportedly more common in Iranian Jewish populations and the Amish population of Philadelphia, USA
  • Corticosterone Methyloxidase Deficiency Disorder is generally caused by mutations in the CYP11B2 gene. This gene codes for the enzyme aldosterone synthase, which regulates the synthesis of the hormone aldosterone
  • Aldosterone regulates salt and water balance within the human body. Therefore, when aldosterone synthesis is impaired, salt and ionic imbalances ensue, leading to metabolic acidosis, hyponatremia, and hyperkalemia. Hence, the condition is also known as Aldosterone Synthase Deficiency Disorder
  • The signs and symptoms of Corticosterone Methyloxidase Deficiency Disorder include salt loss in urine, reduced potassium in urine, dehydration, and muscle weakness. In infants with this deficiency disorder, seizures, coma, and death are known to occur. The symptoms are reported to become milder with age
  • A diagnosis of Corticosterone Methyloxidase Deficiency Disorder may require a physical examination, an assessment of family history, blood tests to check for hormone levels, and DNA testing to look for CYP11B2 gene mutations
  • Treatment options for Corticosterone Methyloxidase Deficiency Disorder can include rehydration, mineralocorticoids supplementation, and inclusion of sodium in the diet
  • Corticosterone Methyloxidase Deficiency Disorder is a genetic condition and there are currently no preventive methods or guidelines available. Prospective parents with a history of Corticosterone Methyloxidase Deficiency Disorder may benefit from genetic testing and counseling in order to better understand the risks of having a child
  • The prognosis of Corticosterone Methyloxidase Deficiency Disorder depends upon the severity of the signs and symptoms; individuals with mild signs and symptoms have better life expectancies than those with severe signs and symptoms

Please find comprehensive information on Corticosterone Methyloxidase Deficiency Disorder regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis, and additional useful information HERE.

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Maulik P. Purohit MD MPH picture
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Maulik P. Purohit MD MPH

Assistant Medical Director, Medical Editorial Board, DoveMed Team

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