Literature DB >> 12478359

Familial central diabetes insipidus detected by nocturnal enuresis.

Noriyuki Kanemitsu1, Akihiro Kawauchi, Masaya Nishida, Yoshiyuki Tanaka, Yoichi Mizutani, Shuya Shirahama, Tsuneharu Miki.   

Abstract

A 10-year-old male referred to our clinic with the chief complaint of nocturnal enuresis also complained of daytime polyuria, frequency, and polydipsia. The clinical diagnosis was central diabetes insipidus. Since the patient's father had complained of similar symptoms, the arginine vasopressin-neurophysin II gene was examined. This revealed a single base substitution in one of two alleles in the patient, his father, and his grandfather (a C to T transition at nucleotide position 280 at codon 19 in the first exon). In conclusion, a history of polyuria or polydipsia should be carefully noted and the urinary volume and urine gravity or osmolarity examined in cases of nocturnal enuresis.

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Year:  2002        PMID: 12478359     DOI: 10.1007/s00467-002-0985-0

Source DB:  PubMed          Journal:  Pediatr Nephrol        ISSN: 0931-041X            Impact factor:   3.714


  5 in total

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Authors:  Maria I Argyropoulou; Dimitrios Nikiforos Kiortsis
Journal:  Pediatr Radiol       Date:  2005-06-01

2.  Two novel mutations in seven Czech and Slovak kindreds with familial neurohypophyseal diabetes insipidus-benefit of genetic testing.

Authors:  Gabriela Hrčková; Viktor Jankó; Jitka Kytnarová; Michaela Čižmárová; Markéta Tesařová; Ľudmila Košťálová; Daniela Virgová; Tomáš Dallos; Václav Hána; Jan Lebl; Jiří Zeman; László Kovács
Journal:  Eur J Pediatr       Date:  2016-08-18       Impact factor: 3.183

3.  A novel variation in the AVP gene resulting in familial neurohypophyseal diabetes insipidus in a large Italian kindred.

Authors:  Camilla Birkegaard; Jane H Christensen; Alberto Falorni; Stefania Marzotti; Viviana Minarelli; Niels Gregersen; Søren Rittig
Journal:  Pituitary       Date:  2013-06       Impact factor: 4.107

Review 4.  Translational Research for Pediatric Lower Urinary Tract Dysfunction.

Authors:  Akihiro Kanematsu
Journal:  Int Neurourol J       Date:  2016-11-22       Impact factor: 2.835

5.  Congenital pituitary cyst resulting in adipsic central diabetes insipidus and secondary hypernatremia in a cat.

Authors:  Janny Evenhuis; Steven E Epstein; Ann Della-Maggiore; Krystle L Reagan
Journal:  JFMS Open Rep       Date:  2021-02-27
  5 in total

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