| Full text | |
| Author(s): |
Batista, Sergio L.
[1]
;
Moreira, Ayrton C.
;
Antunes-Rodrigues, Jose
[1]
;
de Castro, Margaret
;
Elias, Lucila L. K.
[1]
;
Elias, Paula C. L.
[2]
Total Authors: 6
|
| Affiliation: | [1] USP, Fac Med Ribeirao Preto, Dept Fisiol, BR-14049900 Ribeirao Preto, SP - Brazil
[2] USP, Fac Med Ribeirao Preto, Dept Clin Med, Div Endocrinol, BR-14049900 Ribeirao Preto, SP - Brazil
Total Affiliations: 2
|
| Document type: | Journal article |
| Source: | Arquivos Brasileiros de Endocrinologia e Metabologia; v. 54, n. 3, p. 269-273, APR 2010. |
| Web of Science Citations: | 7 |
| Abstract | |
Introduction: Central diabetes insipidus {[}D1) characterized by polyuria, polydipsia and inability to concentrate urine, has different etiologies including genetic, autoimmune, post-traumatic, among other causes. Autosomal dominant central DI presents the clinical feature of a progressive decline of arginine-vasopressin (AVP) secretion. Objective: In this study, we characterized the clinical features and sequenced the AVP-NPII gene of seven long-term follow-up patients with idiopathic central DI in an attempt to determine whether a genetic cause would be involved. Methods: The diagnosis of central DI was established by fluid deprivation test and hypertonic saline infusion. For molecular analysis, genomic DNA was extracted and the AVP-NPII gene was amplified by polymerase chain reaction and sequenced. Results: Sequencing analysis revealed a homozygous guanine insertion in the intron 2 (IVS2 +28 InsG) of the AVP-NPII gene in four patients, which represents an alternative gene assembly. No mutation in the code region of the AVP-NPII gene was found. Conclusions: The homozygous guanine insertion in intron 2 (IV52 +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. Arq Bras Endocrinol Metab. 2010;54(3):269-73 (AU) | |