Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/198092
Type: Artigo de periódico
Title: Apparent Mineralocorticoid Excess Syndrome In A Brazilian Boy Caused By The Homozygous Missense Mutation P.r186c In The Hsd11b2 Gene.
Author: Coeli, Fernanda Borchers
Ferraz, Lúcio Fábio Caldas
Lemos-Marini, Sofia H V de
Rigatto, Sumara Zuanazi Pinto
Belangero, Vera Maria Santoro
de-Mello, Maricilda Palandi
Abstract: The apparent mineralocorticoid excess syndrome (AME) is a rare autosomal recessive disorder due to the deficiency of 11beta-hydroxysteroid dehydrogenase type 2 enzyme (11beta-HSD2). The 11beta-HSD2 enzyme, encoded by HSD11B2 gene, metabolizes active cortisol in cortisone. Mutations on HSD11B2 gene affect the enzyme activity by leading to an excess of cortisol, which causes its inappropriate access to mineralocorticoid receptor. Therefore, cortisol will bind mineralocorticoid receptor. The human HSD11B2 gene maps to chromosome 16q22 and consists of five exons encoding a protein of 405 amino acids. We present here clinical and molecular studies on a Brazilian boy who was born pre-term after an oligodramnious pregnancy. He was diagnosed as having AME at the age of 26 months. His parents are second cousins. Molecular characterization of the HSD11B2 gene revealed the homozygous mutation p.R186C. The patient described here is the second case of HDS11B2 gene mutation reported in Brazilian patients with AME.
Subject: 11-beta-hydroxysteroid Dehydrogenase Type 2
Amino Acid Sequence
Child, Preschool
Consanguinity
Homozygote
Humans
Male
Mineralocorticoid Excess Syndrome, Apparent
Mutation, Missense
Rights: aberto
Identifier DOI: 
Address: http://www.ncbi.nlm.nih.gov/pubmed/19169481
Date Issue: 2008
Appears in Collections:Artigos e Materiais de Revistas Científicas - Unicamp

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