Clinical features and molecular analysis of arginine-vasopressin neurophysin II gene in long-term follow-up patients with idiopathic central diabetes insipidus

Batista, Sérgio Luchini; Moreira, Ayrton Custódio; Antunes‐Rodrigues, José; Castro, Margaret de; Elias, Paula Condé Lamparelli

doi:10.1590/s0004-27302010000300004

Cited by 8 publications

(6 citation statements)

References 34 publications

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“…It is worth pointing out that extrapituitary localizations of LCH including the chest or liver may become evident after the onset of CDI [32]. Rarely, de novo mutations of theAVP-NPII gene are responsible for some idiopathic forms of CDI associated with normal PS size [33,34]. …”

Section: Acquired Forms Of CDImentioning

confidence: 99%

Diabetes Insipidus – Diagnosis and Management

et al. 2012

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Central diabetes insipidus (CDI) is the end result of a number of conditions that affect the hypothalamic-neurohypophyseal system. The known causes include germinoma/craniopharyngioma, Langerhans cell histiocytosis (LCH), local inflammatory, autoimmune or vascular diseases, trauma resulting from surgery or an accident, sarcoidosis, metastases and midline cerebral and cranial malformations. In rare cases, the underlying cause can be genetic defects in vasopressin synthesis that are inherited as autosomal dominant, autosomal recessive or X-linked recessive traits. The diagnosis of the underlying condition is challenging and raises several concerns for patients and parents as it requires long-term follow-up. Proper etiological diagnosis can be achieved via a series of steps that start with clinical observations and then progress to more sophisticated tools. Specifically, MRI identification of pituitary hyperintensity in the posterior part of the sella, now considered a clear marker of neurohypophyseal functional integrity, together with the careful analysis of pituitary stalk shape and size, have provided the most striking findings contributing to the diagnosis and understanding of some forms of ‘idiopathic’ CDI. MRI STIR (short-inversion-time inversion recovery sequencing) is a promising technology for the early identification of LCH-dependent CDI.

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Section: Acquired Forms Of CDImentioning

confidence: 99%

Diabetes Insipidus – Diagnosis and Management

et al. 2012

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“…In adults, CDI is mainly caused by primary brain tumors, head trauma or is of autoimmune/idiopathic/ familial origin. In children, however, a larger percent of CDI (50%, as opposed to 30% in adults) is due to brain tumors (or their treatment), with 29-54% resulting from familial/idiopathic/autoimmune causes [3,43,44]. Histocytosis X is a significant cause of CDI in children (16%), however it is not a significant cause of new onset cases in adults [3].…”

Section: Central Diabetes Insipidus (Cdi)mentioning

confidence: 99%

“…Granulomatous disease, postinfectious processes, trauma, neoplasms, drugs (ethanol, phenytoin and others) and vascular injury all can disrupt ADH secretion, leading to CDI. Idiopathic CDI, which constitutes a sizable percentage of CDI, is now thought to be of autoimmune origin [43,44,55]. In some patients with CDI, a lymphocytic infiltration of the posterior pituitary has been suspected, and then confirmed by autopsy.…”

Section: Central Diabetes Insipidus (Cdi)mentioning

confidence: 99%

Diabetes Insipidus: A Review

Shapiro¹

2013

J Diabetes Metab

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“…Growth retardation and delayed bone age are commonly reported in patients with central DI with an incidence of 20-35 %, and effectively corrected by desmopressin treatment [22]. However, some patients with unlimited and unrestricted fluid intake can thrive normally, which causes a difficulty in creating a clear genotype-phenotype correlation [23].…”

Section: Discussionmentioning

confidence: 99%

AVP-NPII gene mutations and clinical characteristics of the patients with autosomal dominant familial central diabetes insipidus

et al. 2015

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Familial central DI is a progressive disease, and age of onset of symptoms can differ depending on the mutation. Bright spot on pituitary MRI might be present at onset, but become invisible over time. Genetic testing and appropriate counseling should be given in familial cases of central DI to ensure adequate treatment, and to avoid chronic water deprivation that might result in growth retardation in childhood.

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Clinical features and molecular analysis of arginine-vasopressin neurophysin II gene in long-term follow-up patients with idiopathic central diabetes insipidus

Abstract: The homozygous guanine insertion in intron 2 (IVS2 +28 InsG) is unlikely to contribute to the AVP-NPII gene modulation in DI. In addition, the etiology of idiopathic central DI in children may not be apparent even after long-term follow-up, and requires continuous etiological surveillance.

Cited by 8 publications

References 34 publications

Diabetes Insipidus – Diagnosis and Management

Diabetes Insipidus – Diagnosis and Management

Diabetes Insipidus: A Review

AVP-NPII gene mutations and clinical characteristics of the patients with autosomal dominant familial central diabetes insipidus

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