Diabetes Insipidus
Endocrinology and Metabolism Clinics of North AmericaPublished 1 September 1995
Gary L. Robertson
Citations194
SJR quartileQ1
SJR score1.74
SNIP1.94
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TL;DR
Understanding of the genetic forms has advanced greatly and may soon lead to improved methods of prevention, diagnosis, and treatment of diabetes insipidus.
Abstract
Diabetes insipidus, characterized by the excretion of copious volumes of unconcentrated urine, results from a deficiency in the action of the antidiuretic hormone arginine vasopressin and can be caused by any of four fundamentally different defects, including impaired secretion (neurohypophyseal diabetes insipidus), impaired renal response (nephrogenic diabetes insipidus), excessive fluid intake (primary polydipsia), or increased metabolism of the hormone (gestational diabetes insipidus). Differentiation between their causes, pathophysiology, and treatment methods is essential for effective management and is best achieved by a combination of hormonal, clinical, and neuroradiologic observations. Understanding of the genetic forms has advanced greatly and may soon lead to improved methods of prevention, diagnosis, and treatment.
Keywords
MedicineBiochemistry, Genetics and Molecular Biology
ScienceRequirement of Human Renal Water Channel Aquaporin-2 for Vasopressin-dependent Concentration of Urine
876 Citations1994Peter M.T. Deen, Marian Verdijk +5 more
A male patient with an autosomal recessive form of NDI was found to be a compound heterozygote for two mutations in the gene encoding aquaporin-2, a water channel, which is essential for vasopressin-dependent concentration of urine.
New England Journal of MedicineLymphocytic Infundibuloneurohypophysitis as a Cause of Central Diabetes Insipidus
459 Citations1993Hiroo Imura, Kazuwa Nakao +5 more
Diabetes insipidus can be caused by lymphocytic infundibuloneurohypophysitis, which can be detected by MRI, and the natural course of the disorder is self-limited, suggesting a self- limited process.
JAMAEndocrinology and Metabolism
361 Citations1996Barry Z. Izenstein
The editors have assembled outstanding endocrinologists, who have written a comprehensive textbook that combines basic science and clinical endocrinology, and the format of the text has been well conceived.
New England Journal of MedicineMechanisms of Altered Water Metabolism in Psychotic Patients with Polydipsia and Hyponatremia
306 Citations1988Morris B. Goldman, Daniel J. Luchins +1 more
It is concluded that psychiatric patients with polydipsia and hyponatremia have unexplained defects in urinary dilution, the osmoregulation of water intake, and the secretion of vasopressin.
New England Journal of MedicineA Comparison of Plasma Vasopressin Measurements with a Standard Indirect Test in the Differential Diagnosis of Polyuria
271 Citations1981Robert L. Zerbe, Gary L. Robertson
It is concluded that the incorporation of a vasopressin assay improves accuracy in the differential diagnosis of polyuria and may be explained by increased sensitivity to low concentrations of vasoppressin in the former disorder and a reduction of maximal concentrating ability in both.
New England Journal of MedicineHemodynamic and Coagulation Responses to 1-Desamino[8-D-Arginine] Vasopressin in Patients with Congenital Nephrogenic Diabetes Insipidus
254 Citations1988Daniel G. Bichet, Mohammad Hossein Razi +5 more
The results confirm the existence of extrarenal vasopressin V2-like receptors, which may be defective in patients with congenital nephrogenic diabetes insipidus, and clarify the role of factor VIIIc and von Willebrand factor in this disease.
Journal of Clinical InvestigationWater channels encoded by mutant aquaporin-2 genes in nephrogenic diabetes insipidus are impaired in their cellular routing.
244 Citations1995Peter M.T. Deen, Huib J. E. Croes +3 more
In Xenopus oocytes the inability of Gly64-Arg, Arg187Cys or Ser216Pro substituted AQP-2 proteins to facilitate water transport is caused by an impaired routing to the plasma membrane.
Journal of Clinical InvestigationCloning, characterization, and chromosomal mapping of human aquaporin of collecting duct.
212 Citations1994S. Sasaki, Kiyohide Fushimi +8 more
Western blot analysis of human kidney medulla indicated that the molecular mass of hAQP-CD is 29 kD, which is the same mass expected from the amino acid sequence, which could be important for future studies of the pathophysiology of human urinary concentration mechanisms in normal and abnormal states.
PubMedPatients with autosomal nephrogenic diabetes insipidus homozygous for mutations in the aquaporin 2 water-channel gene.
206 Citations1994Angenita F. van Lieburg, Marian Verdijk +8 more
Results prove that mutations in the AQP2 gene cause autosomal recessive NDI, and Expression studies in Xenopus oocytes showed that the missense AQP 2 proteins are nonfunctional.
Journal of Computer Assisted TomographyPosterior Lobe of the Pituitary in Diabetes Insipidus
170 Citations1987Ichiro Fujisawa, K Nishimura +10 more
The posterior lobe of the pituitary gland was evaluated by 1.5 T magnetic resonance (MR) in five cases of diabetes insipidus (DI), including one primary (idiopathic) and four secondary DI cases due to germinomas, teratoma, and histiocytosis χ (one).
American Journal of Kidney DiseasesDiabetes Insipidus in Pregnancy
158 Citations1987Jacques A. Dürr
The different forms of DI peculiar to pregnancy are reviewed, including transient DI of gestation, which in one case followed by us appeared to be due to marked increments in circulating cystine-aminopeptidase (vasopressinase).
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158 Citations1991R D Tien, John Kucharczyk +1 more
MR imaging is able to provide a specific diagnosis in almost all cases of central diabetes insipidus and analysis of stalk morphology; associated brain findings; and correlation with the patient's age, sex, history, and radiographs of other body parts improved diagnostic specificity.
PubMedNature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus.
152 Citations1994Daniel G. Bichet, Mariel Birnbaumer +8 more
In the 31 NDI families and 6 families previously reported by us, there is evidence both for mutation hot spots for nucleotide substitutions and for small deletions and insertions, most of which could be attributed to slipped mispairing during DNA replication.
Acta PaediatricaJUVENILE DIABETES MELLITUS, OPTIC ATROPHY, HEARING LOSS, DIABETES INSIPIDUS, ATONIA OF THE URINARY TRACT AND BLADDER, AND OTHER ABNORMALITIES (WOLFRAM SYNDROME)
146 Citations1977Cor W. R. J. Cremers, Paul G. A. B. Wijdeveld +1 more
It seems probable that the same mechanism can be held responsible for the lesions of the olfactory, optic, vestibular and cochlear nerves, the hypophyseal form of diabetes insipidus, retarded sexual maturation, abnormal pupillary reaction, myelopathy and the electro-encephalographic, electroneurological and electromyographic changes in the Wolfram syndrome.
Journal of Clinical InvestigationA single base substitution in the coding region for neurophysin II associated with familial central diabetes insipidus.
136 Citations1991Masaki Ito, Y Mori +2 more
To elucidate the molecular mechanism of familial central diabetes insipidus (FDI), the arginine vasopressin-neurophysin II (AVP-NPII) gene in 2 patients belonging to a pedigree that is consistent with an autosomal dominant mode of inheritance is sequencing.
The Journal of Clinical Endocrinology & MetabolismNecrotizing infundibulo-hypophysitis: a unique syndrome of diabetes insipidus and hypopituitarism.
135 Citations1993S R Ahmed, Donatella Aiello +4 more
It is suggested that these 2 patients with necrotizing infundibulo-hypophysitis represent a unique syndrome, which may be recognized clinically and radiologically, and distinguished from classical lymphocytic hypophysitis.
New England Journal of MedicineAggravation of Subclinical Diabetes Insipidus during Pregnancy
123 Citations1991Yugo Iwasaki, Yutaka Oiso +8 more
The secretion and action of vasopressin were studied both when the women had polyuria and polydipsia and later, when their water intake and urine volume were normal.
Journal of Clinical InvestigationPossible involvement of inefficient cleavage of preprovasopressin by signal peptidase as a cause for familial central diabetes insipidus.
105 Citations1993Michiho Ito, Yutaka Oiso +6 more
Data suggest that inefficient processing of preproVP produced by the mutant allele is possibly involved in the pathogenesis of diabetes insipidus in the affected individuals.
The Journal of Clinical Endocrinology & MetabolismFamilial neurohypophyseal diabetes insipidus associated with a signal peptide mutation.
99 Citations1993James F. McLeod, László Kovács +4 more
It is hypothesize that a mutation in exon 1 of the AVP-neurophysin-II gene causes FNDI in this kindred by making an abnormally processed precursor that gradually destroys vasopressinergic neurons.
Annual Review of MedicineDifferential Diagnosis of Polyuria
98 Citations1988Gary L. Robertson
Diabetes insipidus is a syndrome characterized by chronic polyuria and polydipsia, and accurate diagnostic differentiation among the four basic types of DI is essential not only for safe and effective management but also for a proper understanding of the basic physiology and pathophysiology of water homeostasis.
The EMBO JournalA missense mutation in the vasopressin‐neurophysin precursor gene cosegregates with human autosomal dominant neurohypophyseal diabetes insipidus.
96 Citations1992Ulrich Bahnsen, Peter Oosting +4 more
Data suggest that a single amino acid exchange within a highly conserved domain of the human vasopressin‐associated neurophysin is the primary cause of one form of ADNDI.
PubMedUse of T1-weighted MR imaging to differentiate between primary polydipsia and central diabetes insipidus.
88 Citations1992Arnold M. Moses, B. E. Clayton +1 more
T1-weighted MR may prove important in differentiating patients with central diabetes insipidus from those with primary polydipsia, who have an intact neurohypophyseal system.
American Journal of Medical GeneticsAutosomal recessive inheritance of vasopressin‐resistant diabetes insipidus
64 Citations1991Joanne M. Langley, J. W. Balfe +3 more
DNA analysis of the DXS52 locus with the use of St14 as probe showed that each girl inherited different Xq28 regions of the maternal X chromosomes, ruling out a diagnosis of classical X-linked NDI.
RadiologyPosterior lobe of the pituitary in diabetes insipidus: dynamic MR imaging.
61 Citations1993Noriko Sato, Hideo Ishizaka +3 more
In patients with central DI, MR imaging reveals delayed enhancement of the posterior pituitary lobe compared with the early enhancement seen in subjects without central DI.
Endocrine JournalLymphocytic Hypophysitis Presenting with Diabetes Insipidus: Case Report and Literature Review.
59 Citations1994Hiroyuki Koshiyama, Hideki Sato +7 more
This case of a 50-year-old woman with lymphocytic hypophysitis which presented with diabetes insipidus is suggested to represent a variant ofymphocytic adenohypophysitis and/or lymphocytics infundibulo-neurohypophysitis, in which the chronic inflammatory process involves the infundIBulum, adenOHypophysis and neurohypophysis.
The Journal of Clinical Endocrinology & MetabolismGlu-47, which forms a salt bridge between neurophysin-II and arginine vasopressin, is deleted in patients with familial central diabetes insipidus.
55 Citations1993Hideya Yuasa, Michiho Ito +5 more
It is suggested that AVP would undergo accelerated proteolytic degradation, and this mechanism would be involved in the pathogenesis of DI in this pedigree.
Transactions of the Association of American PhysiciansDipsogenic diabetes insipidus: a newly recognized syndrome caused by a selective defect in the osmoregulation of thirst.
55 Citations1987Robertson Gl
An abnormality in the osmoregulatory abnormality can account not only for the thirst and polyuria under basal conditions but also for the overhydration that occurs during antidiuretic therapy.
European Journal of PediatricsPituitary stalk thickening with diabetes insipidus preceding typical manifestations of Langerhans cell histiocytosis in children
47 Citations1993Sarah Schmitt, W. Wichmann +3 more
It is concluded that thickening of the central part of the pituitary stalk might represent the first manifestations of LCH clinically presenting with diabetes insipidus and accurate follow up in patients with thickening in necessary to avoid missing other manifestations of a systemic disease.
PubMedMutations in the vasopressin V2 receptor gene in families with nephrogenic diabetes insipidus and functional expression of the Q-2 mutant.
41 Citations1994Walter Rosenthal, Anita Seibold +6 more
The present data indicate that X-linked NDI is frequently attributable to a mutation in the V2 receptor gene and proves biochemically that the Q-2 mutation is the cause of NDI in theQ-2 family.
PubMedMR in idiopathic central diabetes insipidus of childhood.
35 Citations1994B A Appignani, Hal Landy +1 more
Two children with presumed idiopathic central diabetes insipidus whose follow-up MR studies eventually revealed hypothalamic tumors are presented, and Thin-section sagittal T1-weighted MR with gadolinium administration is important in the evaluation.
Surgical NeurologyCentral diabetes insipidus resulting from a nonneoplastic tiny mass lesion localized in the neurohypophyseal system
27 Citations1992Minoru Hoshimaru, Nobuo Hashimoto +1 more
It is indicated that some cases of central diabetes insipidus result from a tiny mass lesion, usually nonneoplastic, localized in the neurohypophyseal system.
PubMedRole of MR imaging in the evaluation of the functional status of the posterior pituitary gland: the view of a pediatric endocrinologist.
27 Citations1994Mohamad Maghnie, Maria Grazia Sommaruga +2 more
It is believed that posterior pituitary bright signal in Dl does not necessarily indicate that the functional integrity of the hypothalamic-neurohypophyseal axis is preserved, but only that normal packaging of the hormone has occurred, though not necessarily its release, which might be impaired by local proteolytic degradation.
Clinical RadiologyMRI in diabetes insipidus due to metastatic breast carcinoma
26 Citations1992R. Chaudhuri, C.J. Twelves +2 more
Three women with known carcinoma of the breast, who presented acutely with biochemically proven diabetes insipidus (DI), are described, in whom MRI was used as the primary investigative tool.
Acta PaediatricaVasopressin and gonadotropin deficiency in a boy with the ectrodactyly‐ectodermal dysplasia‐clefting syndrome
24 Citations1992Lionel Van Maldergem, Y. Gillerot +4 more
It is suggested that the ectrodactyly‐ectodermal dysplasia‐clefting syndrome can be associated with a variety of hypothalamo‐pituitary dysfunctions, in addition to the already described isolated growth hormone deficiency.
Pediatric NephrologyNephrogenic diabetes insipidus: identification of the genetic defect
22 Citations1993Nine Knoers, A. v. d. Ouweland +4 more
Direct mutation analysis is now applicable for accurate carrier detection and early (prenatal) diagnosis ofital nephrogenic diabetes insipidus by demonstrating close linkage between NDI and several X-chromosomal DNA markers.
Hormone ResearchNormal Hemodynamic and Coagulation Responses to 1 -Deamino-8-D-Arginine Vasopressin in a Case of Lithium-Induced Nephrogenic Diabetes insipidus
16 Citations2008Christine Hober, Marie‐Christine Vantyghem +3 more
The results argue for an end-organ resistance to DDAVP confined to the kidneys in LINDI and an effectiveness of indomethacin combined with an LOD.
Postgraduate Medical JournalPost-traumatic diabetes insipidus combined with primary polydipsia
15 Citations1987M Labib, G McPhate +1 more
A case of diabetes insipidus after head injury in which thirst persisted despite treatment with DDAVP and normal plasma osmolality, which is believed to have been due to hypothalamic injury causing resetting of the thirst osmostat.
The Journal of Clinical Endocrinology & MetabolismRENAL MECHANISMS IN COINCIDENT ADDISON's DISEASE AND DIABETES INSIPIDUS: EFFECTS OF VASOPRESSIN AND HYDROCORTISONE*
13 Citations1956Penn G. Skillern, A. C. Corcoran +1 more
The data make it seem unlikely that the adrenal hormone has a specific action on renal tubular reabsorption of water, although the defects of water excretion characteristic of the two syndromes are, in some respects, disparate.
NeuroradiologyHyperintense posterior pituitary lobe in central diabetes insipidus
5 Citations1994Ali Demırcı, Ali İhsan Ökten +1 more
PubMedSepto-optic dysplasia associated with polyendocrine dysfunction.
5 Citations1993Nicolas W. Shammas, Jason Brown +4 more
A case of polyendocrine dysfunction is described in a 22 year-old white female with septo-optic dysplasia, which included atrophic optic nerves, a cavum septum pellucidum and a small pituitary gland detected by magnetic resonance imaging.
Journal of Neurology Neurosurgery & PsychiatryFamilial cerebellar ataxia and diabetes insipidus.
5 Citations1988Iain C. A. F. Robinson, B P O'Malley +1 more
It is reported that two sisters are reported who both developed partial cranial diabetes insipidus in their 4th decade, followed by progressive cerebellar ataxia, which appears to be the first report of Cerebellar Ataxia and diabetes insipsia occurring together as a genetic entity.
Journal of Neurology Neurosurgery & PsychiatryReversible pituitary stalk enlargement in cranial diabetes insipidus.
5 Citations1991Surujpal Teelucksingh, Rob S. Sellar +3 more
Clinicians with no experience in DCS had difficulty in identifying the ICA correctly in a significant proportion of cases and correct interpretation of duplex images require extra training.
Southern Medical JournalTransient Diabetes Insipidus Following Electrical Burns in Two Patients
4 Citations1994C. Urquhart, Phil D. Craft +1 more
Two healthy white men who sustained high-voltage electrical burns and were transferred to a regional burn center for specialized care developed clinical signs and laboratory evidence of diabetes insipidus within 24 hours of admission.
Journal of Medical GeneticsFacial dysmorphism: a marker of autosomal dominant cranial diabetes insipidus.
4 Citations1991R.B.S. Laing, John Dean +2 more
Europe PMC (PubMed Central)Diabetes Insipidus in Man: Frontiers of Hormone Research, vol 13
2 Citations1986D P Davies