Central diabetes insipidus

ABSTRACT Central diabetes insipidus (CDI), characterized by polyuria and polydipsia, is caused by deficiency of arginine vasopressin (AVP), an antidiuretic hormone which acts on V2 receptors in kidney to promote reabsorption of free water. CDI is classified into three subtypes; idiopathic, secondary and familial. A previous study suggests that infundibulo-neurohypophysitis might be an underlying cause of idiopathic CDI. Among secondary CDI, the tumors in the central nervous system such as craniopharyngioma and germ cell tumors are the most frequent causes. Familial CDI is inherited mostly in an autosomal dominant mode, and the number of causal mutations in the AVP gene locus reported so far exceeds 80. CDI is treated with desmopressin, an analogue of vasopressin, and the tablet is preferred to the nasal form because it is easier to administer. It is also shown that the oral disintegrating tablet formula increases QOL and decreases the incidence of hyponatremia in CDI patients. In some CDI patients, the osmoreceptors in the hypothalamus do not function and patients do not sense thirst. These adipsic CDI patients are treated with desmopressin and adjusting the amount of daily water intake based on body weight measurement; but controlling the water balance is extremely difficult, and morbidity and mortality are shown to be high in these patients.

[1]  M. Nie,et al.  Identification of five novel arginine vasopressin gene mutations in patients with familial neurohypophyseal diabetes insipidus. , 2016, International journal of molecular medicine.

[2]  L. Kovács,et al.  Two novel mutations in seven Czech and Slovak kindreds with familial neurohypophyseal diabetes insipidus—benefit of genetic testing , 2016, European Journal of Pediatrics.

[3]  E. Coskunpinar,et al.  A novel AVP gene mutation in a Turkish family with neurohypophyseal diabetes insipidus , 2016, Journal of Endocrinological Investigation.

[4]  H. Arima,et al.  Formation of Endoplasmic Reticulum-Associated Compartment in Vasopressin Neurons: A Mechanism by Which Endoplasmic Reticulum Stress is Reduced , 2015 .

[5]  F. Deniz,et al.  Identification of a Novel Deletion in AVP-NPII Gene in a Patient with Central Diabetes Insipidus. , 2015, Annals of clinical and laboratory science.

[6]  D. Turkkahraman,et al.  AVP-NPII gene mutations and clinical characteristics of the patients with autosomal dominant familial central diabetes insipidus , 2015, Pituitary.

[7]  M. Maghnie,et al.  Early-onset central diabetes insipidus is associated with de novo arginine vasopressin-neurophysin II or Wolfram syndrome 1 gene mutations. , 2015, European journal of endocrinology.

[8]  T. Ando,et al.  Quality of life in the patients with central diabetes insipidus assessed by Nagasaki Diabetes Insipidus Questionnaire , 2015, Endocrine.

[9]  H. Arima,et al.  Comparison of incidence of hyponatremia between intranasal and oral desmopressin in patients with central diabetes insipidus. , 2015, Endocrine journal.

[10]  N. Asai,et al.  Arginine vasopressin neuronal loss results from autophagy-associated cell death in a mouse model for familial neurohypophysial diabetes insipidus , 2014, Cell Death and Disease.

[11]  H. Arima,et al.  Adipsia increases risk of death in patients with central diabetes insipidus. , 2014, Endocrine journal.

[12]  L. Löning,et al.  Dilatative Uropathy as a Manifestation of Neurohypophyseal Diabetes Insipidus due to a Novel Mutation in the Arginine Vasopressin-Neurophysin-II Gene , 2013, Klinische Pädiatrie.

[13]  N. Gregersen,et al.  A novel deletion partly removing the AVP gene causes autosomal recessive inheritance of early‐onset neurohypophyseal diabetes insipidus , 2013, Clinical genetics.

[14]  H. Arima,et al.  Efficacy and safety of desmopressin orally disintegrating tablet in patients with central diabetes insipidus: results of a multicenter open-label dose-titration study. , 2013, Endocrine journal.

[15]  N. Gregersen,et al.  A novel variation in the AVP gene resulting in familial neurohypophyseal diabetes insipidus in a large Italian kindred , 2013, Pituitary.

[16]  N. Gregersen,et al.  Late‐onset familial neurohypophyseal diabetes insipidus due to a novel mutation in the AVP gene , 2012, Clinical endocrinology.

[17]  M. Maghnie,et al.  Diabetes Insipidus – Diagnosis and Management , 2012, Hormone Research in Paediatrics.

[18]  Binbin Wang,et al.  Clinical and molecular analysis of a Chinese family with autosomal dominant neurohypophyseal diabetes insipidus associated with a novel missense mutation in the vasopressin–neurophysin II gene , 2012, Endocrine.

[19]  P. Kopp,et al.  Familial forms of diabetes insipidus: clinical and molecular characteristics , 2011, Nature Reviews Endocrinology.

[20]  E. Fliers,et al.  Familial neurohypophyseal diabetes insipidus due to a novel mutation in the arginine vasopressin-neurophysin II gene. , 2011, European journal of endocrinology.

[21]  B. Velkeniers,et al.  Growth retardation in untreated autosomal dominant familial neurohypophyseal diabetes insipidus caused by one recurring and two novel mutations in the vasopressin-neurophysin II gene. , 2011, European journal of endocrinology.

[22]  P. Brosnan,et al.  Polyuria and polydipsia in a young child: diagnostic considerations and identification of novel mutation causing familial neurohypophyseal diabetes insipidus , 2012, Pituitary.

[23]  N. Ozaki,et al.  Progressive polyuria without vasopressin neuron loss in a mouse model for familial neurohypophysial diabetes insipidus. , 2009, American journal of physiology. Regulatory, integrative and comparative physiology.

[24]  C. Ki,et al.  Mutation of Glu78 of the AVP-NPII gene impairs neurophysin as a carrier protein for arginine vasopressin in a family with neurohypophyseal diabetes insipidus. , 2008, Annals of clinical and laboratory science.

[25]  D. Cowley,et al.  Utility of AVP gene testing in familial neurohypophyseal diabetes insipidus , 2008, Clinical endocrinology.

[26]  M. Mancini,et al.  Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a novel mutation in arginine-vasopressin gene in a Brazilian family. , 2008, Arquivos brasileiros de endocrinologia e metabologia.

[27]  O. Mueller,et al.  Novel human pathological mutations , 2008, Human Genetics.

[28]  C. Thompson,et al.  Clinical insights into adipsic diabetes insipidus: a large case series , 2007, Clinical endocrinology.

[29]  J. Christensen,et al.  Familial neurohypophyseal diabetes insipidus--an update. , 2006, Seminars in nephrology.

[30]  I. Fujisawa,et al.  A novel heterozygous missense mutation in the vasopressin moiety is identified in a Japanese person with neurohypophyseal diabetes insipidus , 2006, Journal of endocrinological investigation.

[31]  K. Ozono,et al.  Hyperintensity of posterior pituitary on MR T1WI in a boy with central diabetes insipidus caused by missense mutation of neurophysin II gene. , 2001, Endocrine journal.

[32]  Murase,et al.  Rapid and Sensitive Vasopressin Heteronuclear RNA Responses to Changes in Plasma Osmolality , 1999, Journal of neuroendocrinology.

[33]  R. Fahlbusch,et al.  Prevalence, predictors and patterns of postoperative polyuria and hyponatraemia in the immediate course after transsphenoidal surgery for pituitary adenomas , 1999, Clinical endocrinology.

[34]  H. Kurokawa,et al.  Posterior lobe of the pituitary gland: correlation between signal intensity on T1-weighted MR images and vasopressin concentration. , 1998, Radiology.

[35]  H. Arima,et al.  Regulation of vasopressin synthesis and release by area postrema in rats. , 1998, Endocrinology.

[36]  G. Hoffman,et al.  Induction of glucocorticoid receptor expression in hypothalamic magnocellular vasopressin neurons during chronic hypoosmolality. , 1995, Endocrinology.

[37]  H. Imura,et al.  Lymphocytic infundibuloneurohypophysitis as a cause of central diabetes insipidus. , 1993, The New England journal of medicine.

[38]  E. Alvord,et al.  Heredtary and idiopathic types of diabetes insipidus. , 1967, Brain : a journal of neurology.