Abstract:
INTRODUCTION:Abetalipoproteinemia is a rare inherited disorder characterized by very low plasma levels of cholesterol and triglycerides, secondary to a dramatic decrease in apolipoprotein B-containing lipoproteins, which is induced by a mutation in the microsomal triglyceride transfer protein gene. CASE:In our paper, we describe an atypical clinical manifestation of this condition in a young man, which included the presence of hypogonadism and chronic adrenal failure. We connect the development of both endocrine disorders with very low plasma levels of cholesterol, which is uptaken by the gonads and adrenal cortex and used as a substrate for steroidogenesis, accentuated by carbamazepine treatment. Testosterone treatment and administration of hydrocortisone, fludrocortisone and dehydroepiandrosterone resulted in a significant improvement in a patient's condition. CONCLUSIONS:This case shows that untreated or inaccurately managed long-lasting abetalipoproteinemia may impair the production of steroid hormones and lead to the development of some endocrine disorders.
journal_name
Eur Rev Med Pharmacol Scijournal_title
European review for medical and pharmacological sciencesauthors
Krysiak R,Okopie Bsubject
Has Abstractpub_date
2012-10-01 00:00:00pages
95-7eissn
1128-3602issn
2284-0729journal_volume
16 Suppl 4pub_type
杂志文章abstract:OBJECTIVE:To explore the expression pattern and diagnostic value of microRNA-122 (miRNA-122) in childhood Kawasaki disease (KD). PATIENTS AND METHODS:A total of 150 children with KD were included in the KD group. During the same period, 150 children with respiratory infection complicated with fever and without myocard...
journal_title:European review for medical and pharmacological sciences
pub_type: 杂志文章
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journal_title:European review for medical and pharmacological sciences
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journal_title:European review for medical and pharmacological sciences
pub_type: 杂志文章
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更新日期:2012-11-01 00:00:00
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journal_title:European review for medical and pharmacological sciences
pub_type: 杂志文章,评审
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更新日期:2016-12-01 00:00:00
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journal_title:European review for medical and pharmacological sciences
pub_type: 临床试验,杂志文章
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更新日期:2014-01-01 00:00:00
abstract:OBJECTIVE:The X-linked inhibitor of apoptosis protein (XIAP) is associated with the development of various tumors. The abnormal miR-142 expression is associated with the onset of lung cancer. Bioinformatics analysis revealed a targeted relationship between miR-142 and XIAP. This report investigated whether miR-142 play...
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journal_title:European review for medical and pharmacological sciences
pub_type: 杂志文章
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journal_title:European review for medical and pharmacological sciences
pub_type: 临床试验,杂志文章
doi:
更新日期:1998-05-01 00:00:00
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journal_title:European review for medical and pharmacological sciences
pub_type: 杂志文章
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更新日期:2019-05-01 00:00:00
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journal_title:European review for medical and pharmacological sciences
pub_type: 杂志文章,评审
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journal_title:European review for medical and pharmacological sciences
pub_type: 临床试验,杂志文章
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更新日期:2016-06-01 00:00:00
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journal_title:European review for medical and pharmacological sciences
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doi:
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journal_title:European review for medical and pharmacological sciences
pub_type: 杂志文章
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更新日期:2019-01-01 00:00:00
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journal_title:European review for medical and pharmacological sciences
pub_type: 杂志文章,评审
doi:
更新日期:2004-03-01 00:00:00
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journal_title:European review for medical and pharmacological sciences
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doi:
更新日期:2017-10-01 00:00:00
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更新日期:2018-07-01 00:00:00
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journal_title:European review for medical and pharmacological sciences
pub_type: 杂志文章
doi:
更新日期:2015-02-01 00:00:00
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更新日期:2019-12-01 00:00:00
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journal_title:European review for medical and pharmacological sciences
pub_type: 杂志文章,随机对照试验
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更新日期:2013-01-01 00:00:00
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更新日期:2013-12-01 00:00:00
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更新日期:2015-04-01 00:00:00
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journal_title:European review for medical and pharmacological sciences
pub_type: 杂志文章
doi:
更新日期:2015-09-01 00:00:00
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更新日期:2019-10-01 00:00:00
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journal_title:European review for medical and pharmacological sciences
pub_type: 杂志文章
doi:
更新日期:2014-08-01 00:00:00
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更新日期:2021-01-01 00:00:00
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更新日期:2014-01-01 00:00:00
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pub_type: 杂志文章
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更新日期:2019-02-01 00:00:00