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1.
BMC Endocr Disord ; 21(1): 158, 2021 Aug 06.
Artigo em Inglês | MEDLINE | ID: mdl-34362360

RESUMO

BACKGROUND: Liquorice is found in many food products, soft drinks, and herbal medicines. Liquorice ingestion is an uncommon cause of apparent mineralocorticoid excess or pseudo-aldosteronism. The mechanism involves the inhibition of 11-beta-hydroxysteroid dehydrogenase type-2 by the active ingredient called glycyrrhizin. This leads to the uninhibited activation of mineralocorticoid receptors by cortisol. Confectionary products that contain liquorice are readily available in many countries around the world. CASE PRESENTATION: We report a case of severe refractory hypokalaemia with hypertensive crisis and acute pulmonary oedema due to excessive liquorice consumption. A 79-year-old female presented to the emergency department following a road traffic accident. She described feeling weak and dizzy while driving before the collision. She attended her general practitioner (GP) several weeks earlier for fatigue and was being managed for hypokalaemia on oral potassium supplements. Investigations revealed hypertension (BP 180/69 mmHg), severe hypokalaemia (K 2.2 mmol/l), normal renal function, normal serum magnesium with metabolic alkalosis. Spot urinary potassium was 22 mmol/l. The patient denied taking medications including over-the-counter or herbal medication that can cause hypokalaemia. Hypokalaemia persisted despite aggressive intravenous (i.v.) and oral potassium replacement. She later developed a hypertensive crisis (BP 239/114 mmHg) with pulmonary oedema. She required admission to the intensive care unit and was managed with intravenous furosemide infusion and isosorbide dinitrate infusion. On further discussion, our patient admitted to struggling with nicotine cravings since quitting smoking two months earlier. She began eating an excessive amount of liquorice sweets to manage her cravings. Suppression of plasma renin and aldosterone supported the diagnosis of apparent mineralocorticoid excess secondary to excessive liquorice consumption. Her symptoms and hypokalaemia resolved after stopping liquorice intake. CONCLUSIONS: This case highlights the life-threatening and refractory nature of hypokalaemia secondary to excessive liquorice consumption. This case also emphasizes the importance of comprehensive history taking including dietary habits. Increased awareness among the public is required regarding the potential health hazards of excessive liquorice consumption.


Assuntos
Glycyrrhiza/efeitos adversos , Hiperaldosteronismo/patologia , Síndrome de Excesso Aparente de Minerolocorticoides/patologia , 11-beta-Hidroxiesteroide Desidrogenase Tipo 2/antagonistas & inibidores , 11-beta-Hidroxiesteroide Desidrogenase Tipo 2/metabolismo , Idoso , Feminino , Humanos , Hiperaldosteronismo/etiologia , Síndrome de Excesso Aparente de Minerolocorticoides/etiologia , Prognóstico , Síndrome de Excesso Aparente de Minerolocorticoides
2.
Proc Natl Acad Sci U S A ; 114(52): E11248-E11256, 2017 12 26.
Artigo em Inglês | MEDLINE | ID: mdl-29229831

RESUMO

Mutations in 11ß-hydroxysteroid dehydrogenase type 2 gene (HSD11B2) cause an extraordinarily rare autosomal recessive disorder, apparent mineralocorticoid excess (AME). AME is a form of low renin hypertension that is potentially fatal if untreated. Mutations in the HSD11B2 gene result either in severe AME or a milder phenotype (type 2 AME). To date, ∼40 causative mutations have been identified. As part of the International Consortium for Rare Steroid Disorders, we have diagnosed and followed the largest single worldwide cohort of 36 AME patients. Here, we present the genotype and clinical phenotype of these patients, prominently from consanguineous marriages in the Middle East, who display profound hypertension and hypokalemic alkalosis. To correlate mutations with phenotypic severity, we constructed a computational model of the HSD11B2 protein. Having used a similar strategy for the in silico evaluation of 150 mutations of CYP21A2, the disease-causing gene in congenital adrenal hyperplasia, we now provide a full structural explanation for the clinical severity of AME resulting from each known HSD11B2 missense mutation. We find that mutations that allow the formation of an inactive dimer, alter substrate/coenzyme binding, or impair structural stability of HSD11B2 yield severe AME. In contrast, mutations that cause an indirect disruption of substrate binding or mildly alter intramolecular interactions result in type 2 AME. A simple in silico evaluation of novel missense mutations could help predict the often-diverse phenotypes of an extremely rare monogenic disorder.


Assuntos
11-beta-Hidroxiesteroide Desidrogenase Tipo 2/genética , Genótipo , Síndrome de Excesso Aparente de Minerolocorticoides , Mutação de Sentido Incorreto , Multimerização Proteica/genética , Adolescente , Criança , Pré-Escolar , Simulação por Computador , Estabilidade Enzimática , Feminino , Humanos , Lactente , Masculino , Síndrome de Excesso Aparente de Minerolocorticoides/enzimologia , Síndrome de Excesso Aparente de Minerolocorticoides/genética , Síndrome de Excesso Aparente de Minerolocorticoides/patologia
3.
Clin Chem Lab Med ; 52(2): 213-20, 2014 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-24391193

RESUMO

BACKGROUND: The determination of urinary cortisol/cortisone ratio is of clinical utility in cases of Cushing's syndrome, apparent mineralocorticoid excess, and also provides information on 11ß-hydroxysteroid dehydrogenase (11ß-HSD) type 2 activity. It is therefore of utmost importance to ensure accurate cortisol and cortisone measurement and establish appropriate reference ranges. METHODS: After the isotopic dilution of urine, sample cleanups were obtained with on-line solid-phase extraction and cortisol and cortisone, separated using a Zorbax Eclipse XDB-C18 HPLC analytical column, were analyzed by tandem mass spectrometry with an electrospray ionization source in positive ion mode operation. RESULTS: The method was linear, with concentrations of up to 625 and 1125 nmol/L and lower limit of quantitation (LLOQ) of 5 and 6 nmol/L, for cortisol and cortisone, respectively. Within-run and between-run coefficients of variation were <5% and 6% for cortisol and 6% and 8% for cortisone, respectively. No ion suppression was observed. The non-parametric reference range for the cortisol/cortisone ratio was 0.14-1.09. CONCLUSIONS: A simple and sensitive liquid chromatography tandem mass spectrometry method was developed and validated for the measurement of cortisol and cortisone in urine. Our findings indicate that the proposed analytical method is suitable for routine purposes and useful in many pathological conditions.


Assuntos
Cromatografia Líquida de Alta Pressão , Cortisona/urina , Hidrocortisona/urina , Espectrometria de Massas em Tandem , Urinálise/métodos , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Cromatografia Líquida de Alta Pressão/normas , Cortisona/isolamento & purificação , Cortisona/normas , Feminino , Humanos , Hidrocortisona/isolamento & purificação , Hidrocortisona/normas , Masculino , Pessoa de Meia-Idade , Síndrome de Excesso Aparente de Minerolocorticoides/metabolismo , Síndrome de Excesso Aparente de Minerolocorticoides/patologia , Valores de Referência , Extração em Fase Sólida , Espectrometria de Massas em Tandem/normas , Urinálise/normas , Adulto Jovem , Síndrome de Excesso Aparente de Minerolocorticoides
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