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Editor-in-chief
Maria Stella Graziani

Deputy Director
Martina Zaninotto

Associate Editors
Ferruccio Ceriotti
Davide Giavarina
Bruna Lo Sasso
Giampaolo Merlini
Martina Montagnana
Andrea Mosca
Paola Pezzati
Rossella Tomaiuolo
Matteo Vidali

EIC Assistant
Francesco Busardò

International Advisory Board Khosrow Adeli Canada
Sergio Bernardini Italy
Marcello Ciaccio Italy
Eleftherios Diamandis Canada
Philippe Gillery France
Kjell Grankvist Sweden
Hans Jacobs The Netherlands
Eric Kilpatrick UK
Magdalena Krintus Poland
Giuseppe Lippi Italy
Mario Plebani Italy
Sverre Sandberg Norway
Ana-Maria Simundic Croatia
Tommaso Trenti Italy
Cas Weykamp The Netherlands
Maria Willrich USA
Paul Yip Canada


Publisher
Biomedia srl
Via L. Temolo 4, 20126 Milano

Responsible Editor
Giuseppe Agosta

Editorial Secretary
Chiara Riva
Biomedia srl
Via L. Temolo 4, 20126 Milano
Tel. 0245498282
email: biochimica.clinica@sibioc.it

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ISSN print: 0393 – 0564
ISSN digital: 0392- 7091



BC: Articoli scritti da F. Pizzolo

La diagnostica di laboratorio nella sindrome da apparente eccesso di mineralcorticoidi
The laboratory diagnosis of apparent mineralocorticoid excess (AME)
<p>The apparent mineralocorticoid excess(AME) is a rare genetic disorder caused by impaired activity of the enzyme 11&beta;-hydroxysteroid dehydrogenase type2 (11&beta;HSD2). This abnormality is associated with cortisol excess and abnormal activation of mineralocorticoidreceptor, which is usually only activated by aldosterone. More than 50 known mutations have been associated withAME; whilst some epigenetic modifications may also be involved. AME causes severe hypertension and is hencetraditionally diagnosed during the first years of life. Deficit of 11&beta;HSD2 also occur in other physiopathologicalconditions like pre-eclampsia, sodium-sensitive hypertension and kidney or hepatic impairment. The biochemicaldiagnosis is conventionally made by quantifying tetrahydroxylated metabolites of cortisol (THF and allo-THF) andcortisone (THE) expressed as THF+allo-THF/THE ratio and using home-made Gas Chromatography-MassSpectrometry methods. Nevertheless, some recent studies showed more accurate characterization of 11&beta;HSD2deficit by measuring the urinary free cortisol/cortisone ratio with Liquid Chromatography-Tandem Mass Spectrometry.A final consensus on the preferred method to diagnose AME has not been reached so far, and more studies areneeded for better defining sensitivity and specificity of these tests in some different physiopathological conditionsassociated with 11&beta;HSD2 impairment.</p>
Biochimica Clinica ; 43(3) 264-268
Rassegne - Reviews