Hereditary forms of apparent mineralocorticoid excess (AME): Report of a further case and literature review

Amirah D. Albalawi 1, Sharifah D.A Al-Issa 1, Mohammed Ahmed AlHissi 1, Abdulrahman N A Aljurayyan 2, Jumana J Khoder 3 and Nasir A M Al-Jurayyan 1, *

1 Department of Pediatrics, College of Medicine and King Khalid University Hospital (KKUH), King Saud University, Riyadh, Saudi Arabia.
2 King Khalid University Hospital (KKUH), King Saud University, Riyadh, Saudi Arabia.
3 College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
 
Research Article
World Journal of Biology Pharmacy and Health Sciences, 2023, 15(01), 180–184.
Article DOI: 10.30574/wjbphs.2023.15.1.0284
Publication history: 
Received on 17 May 2023; revised on 23 June 2023; accepted on 26 June 2023
 
Abstract: 
The syndrme of apparent mineralocorticoid excess (AME) is an extremly. rare autosomal recessive disorder. To date, more than 100 reported cases in the medical literature world-wide. It is caused by an impairment in the enzym 11-b-hydroxy steroid dehydrogenase (11-b-HSD) enzyme type 2, characterized by early onset hypertension, hypokalemia, metabolic alkalosis, low levels of seum renin and aldosterone. The majority of patients are usually have a low birth weight and failure to thrive (FTT). Nephrocalcinosis could be present. We describe an 11.5 year old girl, who presented in early infancy with poor growth, and not until a gene study done recently, which revealed a homozygous pathogenic variant in the HSD 11B2 gene c. 622 C >Tp. (Arg208 Cys ). This is consistent with the diagnosis of AME This emphasizes the importance of genetic testing in the diagnosis of AME. A high index of suspicion required in managing such patients. Increased awarness among health care professionals is needed to avoid potential health hazards.
 
Keywords: 
Apparent Mineralocorticoid Excess (AME); 11-b-Hydroxy Steroid Dehydrogenase Enzyme 2; (11-b- HSD2); Hypokalemia; Alkalosis; Renin; Aldosterone; Failure to thrive (FTT); Genetic study
 
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Copyright information: 
Copyright © 2023 Author(s) retain the copyright of this article. This article is published under the terms of the Creative Commons Attribution Liscense 4.0