Apparent mineralocorticoid excess (AME) syndrome

Parvez, Yusuf; Sayed, Ola El

doi:10.1007/s13312-013-0100-6

Cited by 9 publications

(7 citation statements)

References 10 publications

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“…The diagnosis can be achieved clinically, and biochemically. However this can be confirmed by molecular genetic studies (19)(20)(21)(22).…”

Section: Introductionmentioning

confidence: 83%

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

Amirah D. Albalawi,

Sharifah D.A Al-Issa,

Mohammed Ahmed AlHissi

et al. 2023

World J. Bio. Pharm. Health Sci.

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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.

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“…The diagnosis can be achieved clinically, and biochemically. However this can be confirmed by molecular genetic studies (19)(20)(21)(22).…”

Section: Introductionmentioning

confidence: 83%

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

Amirah D. Albalawi,

Sharifah D.A Al-Issa,

Mohammed Ahmed AlHissi

et al. 2023

World J. Bio. Pharm. Health Sci.

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“…Different from these experiences, our patient needed spironolactone and amiloride in order to control hypertension. We preferred salt restriction and spironolactone which is an MR antagonist that binds competitively and protects the receptor against excess activity [16]. The increased dose of spironolactone led to the temporary control of hypertension.…”

Section: Discussionmentioning

confidence: 99%

Apparent mineralocorticoid excess: A diagnosis beyond classical causes of severe hypertension in a child

Gülhan¹,

Unsal

Baltu³

et al. 2022

Blood Pressure Monitoring

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A genetic defect of 11 β-hydroxysteroid dehydrogenase causes apparent mineralocorticoid excess syndrome. Since 50 days of life, our patient was hospitalized several times for various reasons including hypokalemia. At the age of 3.3 years, she was diagnosed with severe hypertension (160/120 mmHg). She also had left ventricular hypertrophy and hypertensive retinopathy and referred to our center. Her renal function and electrolytes were normal except for hypokalemia. She was on captopril treatment; nifedipine and propranolol were added. Plasma renin and aldosterone concentrations were 1.13 pg/ml (1–8.2 pg/ml) and 12.2 ng/dl (35–300 ng/dl), respectively. Severe hypertension, hypokalemia, low renin and aldosterone levels pointed to the diagnosis of apparent mineralocorticoid excess syndrome. Strict salt-restricted diet and potassium citrate were ordered. Genetic analysis of the HSD11B2 gene showed c.623G>A (p.Arg208His). Spironolactone was initiated. On follow-up, amiloride was added and her blood pressure was controlled. In patients with severe HSD11B2 mutation, combination therapy of spironolactone with amiloride could be effective in controlling blood pressure.

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“…Because the age of AME presentation varies and complications can be severe [29], early diagnosis and treatment are vital to prevent end-organ damages [30]. As a congenital disorder, AME usually presents in early childhood [29].…”

Section: Discussionmentioning

confidence: 99%

Apparent mineralocorticoid excess caused by novel compound heterozygous mutations in HSD11B2 and characterized by early-onset hypertension and hypokalemia

Peng

Yang

et al. 2020

Endocrine

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Purpose Apparent mineralocorticoid excess (AME) is an ultrarare autosomal recessive disorder resulting from deficiency of 11β-hydroxysteroid dehydrogenase type 2 (11βHSD2) caused by mutations in HSD11B2. The purpose of this study was to identify novel compound heterozygous HSD11B2 mutations in a Chinese pedigree with AME and conduct a systematic review evaluating the AME clinical features associated with HSD11B2 mutations. Methods Next-generation sequencing was performed in the proband, and Sanger sequencing was used to identify candidate variants in family members, 100 hypertensives, and 100 healthy controls. A predicted structure of 11βHSD2 was constructed by in silico modeling. A systematic review was used to identify cases of HSD11B2-related AME. Data for genotyping and clinical characterizations and complications were extracted. Results Next-generation sequencing showed novel compound heterozygous mutations (c.343_348del and c.1099_1101del) in the proband with early-onset hypertension and hypokalemia. Sanger sequencing verified the monoallelic form of the same mutations in five other relatives but not in 100 hypertensives or 100 healthy subjects. In silico structural modeling showed that compound mutations may simultaneously perturb the substrate and coenzyme binding pocket. A systematic review of 101 AME patients with 54 HSD11B2 mutations revealed early-onset hypertension, hypokalemia and homozygous mutations as common features. The homozygous HSD11B2 mutations correlated with low birth weight (r = 0.285, P = 0.02). Conclusions We report novel compound heterozygous HSD11B2 mutations in a Chinese teenager with early-onset hypertension, and enriched genotypic and phenotypic spectrums in AME. Genetic testing helps early diagnosis and treatment for AME patients, which may avoid target organ damage.

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Apparent mineralocorticoid excess (AME) syndrome

Cited by 9 publications

References 10 publications

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

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

Apparent mineralocorticoid excess: A diagnosis beyond classical causes of severe hypertension in a child

Apparent mineralocorticoid excess caused by novel compound heterozygous mutations in HSD11B2 and characterized by early-onset hypertension and hypokalemia

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