Abstract:
OBJECTIVE:To test further the hypothesis that autosomal dominant neurohypophyseal diabetes insipidus (adFNDI) is caused by heterozygous mutations in the vasopressin-neurophysin II (AVP-NPII) gene that exert a dominant negative effect by producing a precursor that misfolds, accumulates and eventually destroys the neurosecretory neurons. METHODS:Antidiuretic function, magnetic resonance imaging (MRI) of the posterior pituitary and AVP-NPII gene analysis were performed in 10 affected members of three unreported families with adFNDI. RESULTS:As in previously studied patients, adFNDI apparently manifested after birth, was due to a partial or severe deficiency of AVP, and was associated with absence or diminution of the hyperintense MRI signal normally emitted by the posterior pituitary, and with a heterozygous mutation in the AVP-NPII gene. In family A, a transition 275G-->A, which predicts replacement of cysteine 92 by tyrosine (C92Y), was found in the index patient, but not in either parent, indicating that it arose de novo. The six affected members of family B had a transversion 160G-->C, which predicts replacement of glycine 54 by arginine (G54R). It appeared de novo in the oldest affected member, and was transmitted in a dominant manner. In family C, six of 15 living affected members were tested and all had a novel transition, 313T-->C, which predicts replacement of cysteine 105 by arginine (C105R). It, too, was transmitted in a dominant manner. As in other patients with adFNDI, the amino acids replaced by the mutations in these three families are known to be particularly important for correct and efficient folding of the precursor. CONCLUSIONS:These findings are consistent with the malfolding/toxicity hypothesis underlying the pathogenesis of adFNDI. Moreover, they illustrate the value of genetic analysis in all patients who develop idiopathic diabetes insipidus in childhood, even if no other family members are affected.
journal_name
Eur J Endocrinoljournal_title
European journal of endocrinologyauthors
Rutishauser J,Kopp P,Gaskill MB,Kotlar TJ,Robertson GLdoi
10.1530/eje.0.1460649subject
Has Abstractpub_date
2002-05-01 00:00:00pages
649-56issue
5eissn
0804-4643issn
1479-683Xpii
146649journal_volume
146pub_type
杂志文章abstract:BACKGROUND:Survival rates among childhood cancer survivors (CCS) have enormously increased in the last 40 years. However, this improvement has been achieved at the expense of serious late effects that frequently involve the endocrine system. AIM:To evaluate the cumulative incidence of endocrine diseases in a cohort of...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-12-1043
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abstract:OBJECTIVE:Circulating IGF1 declines with age while ill-health increases. Controversy remains whether differences in the levels of IGF1 and its binding proteins 1 and 3 (IGFBP1 and IGFBP3) determine health outcomes during ageing. We examined associations of IGF1, IGFBP1 and IGFBP3 with all-cause and cardiovascular morta...
journal_title:European journal of endocrinology
pub_type: 杂志文章
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journal_title:European journal of endocrinology
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journal_title:European journal of endocrinology
pub_type: 临床试验,杂志文章,多中心研究
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abstract:OBJECTIVES:High variability in clinical response to metformin is often observed in type 2 diabetes (T2D) patients, and it highlights the need for identification of genetic components affecting the efficiency of metformin therapy. Aim of this observational study is to evaluate the role of tagSNPs (tagging single nucleot...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-16-0347
更新日期:2016-12-01 00:00:00
abstract::There is increasing evidence that ovarian steroids inhibit vascular responsiveness to the neurohypophysial hormone vasopressin. The present study examined the recovery of the arterial blood pressure following a single (2 ml/100 g body weight) haemorrhage in ovariectomized (OVX) Brattleboro rats with hereditary hypotha...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1360330
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journal_title:European journal of endocrinology
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doi:10.1530/EJE-11-0419
更新日期:2011-10-01 00:00:00
abstract:BACKGROUND:Primary aldosteronism (PA) is the most common form of secondary hypertension, while Gitelman's syndrome (GS) is the most common inherited renal tubular disease. However, coexistence of these two diseases has never been previously reported. AIM AND SUBJECTS: The aim of our study was to describe the associatio...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-09-0271
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journal_title:European journal of endocrinology
pub_type: 杂志文章,评审
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journal_title:European journal of endocrinology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1530/eje.0.1490499
更新日期:2003-12-01 00:00:00
abstract::The strategy for diagnosis of primary aldosteronism (PA) in the hypertensive population includes firstly a screening step, based on the measurement of plasma aldosterone-to-renin ratio (ARR), a test which must have high sensitivity, and secondly a confirmatory step based on the demonstration of excessive aldosterone p...
journal_title:European journal of endocrinology
pub_type: 杂志文章,评审
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journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-17-0387
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journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-09-0579
更新日期:2009-12-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1360401
更新日期:1997-04-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1350666
更新日期:1996-12-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-09-0732
更新日期:2010-03-01 00:00:00
abstract:BACKGROUND:Cross-sectional studies have shown that more than 50% of patients with congestive heart failure (CHF) have decreased bone mineral density (BMD). There is limited knowledge about the longitudinal changes of BMD and how to treat bone loss in patients with CHF. METHODS:The present study was a prospective, long...
journal_title:European journal of endocrinology
pub_type: 杂志文章,随机对照试验
doi:10.1530/EJE-06-0614
更新日期:2007-03-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章,评审
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journal_title:European journal of endocrinology
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journal_title:European journal of endocrinology
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journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1440653
更新日期:2001-06-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1330591
更新日期:1995-11-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章
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更新日期:2016-05-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1340326
更新日期:1996-03-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章,评审
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更新日期:2014-06-01 00:00:00
abstract::Ahead of Print article withdrawn by publisher. ...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-09-0870
更新日期:2009-09-30 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-10-1129
更新日期:2011-06-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 临床试验,杂志文章
doi:10.1530/EJE-10-0867
更新日期:2011-03-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-07-0647
更新日期:2008-02-01 00:00:00
abstract:OBJECTIVE:Primary hyperparathyroidism (pHPT) is characterized by excessive production of parathyroid hormone (PTH) due to parathyroid adenomas while uremic secondary HPT (sHPT) is caused by parathyroid hyperplasia in response to renal failure. Active vitamin D, 1,25-dihydroxyvitamin D(3) (1,25-(OH)(2)D(3)), with the vi...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1470671
更新日期:2002-11-01 00:00:00