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

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.