Changing the name of diabetes insipidus: a position statement of The Working Group for Renaming Diabetes Insipidus.

"What's in a name? That which we call a rose/By any other name would smell as sweet." (Juliet, from Romeo and Juliet by William Shakespeare). Shakespeare's implication is that a name is nothing but a word and it therefore represents a convention with no intrinsic meaning. Whilst this may be relevant to romantic literature, disease names do have real meanings, and consequences, in medicine. Hence, there must be a very good rational for changing the name of a disease that has a centuries-old historical context. A working group of representatives from national and international endocrinology and pediatric endocrine societies now proposes changing the name of "diabetes insipidus" to "Arginine Vasopressin Deficiency (AVP-D)" for central etiologies, and "Arginine Vasopressin Resistance (AVP-R)" for nephrogenic etiologies. This editorial provides both the historical context and the rational for this proposed name change.

Genetic forms of neurohypophyseal diabetes insipidus.

In the majority of cases, hereditary neurohypophyseal diabetes insipidus (DI) is a monogenic disorder caused by mutations in the AVP gene. Dominant transmission is by far the most common form. In these patients, symptoms develop gradually at various ages during childhood, progressing with complete penetrance to polyuria and polydipsia that is usually severe. In autosomal dominant neurohypophyseal DI (ADNDI), the mutant prohormone is folding deficient and consequently retained in the ER, where it forms amyloid-like fibrillar aggregates. Degradation by proteasomes occurs, but their clearance capacity appears to be insufficient. Postmortem studies in affected individuals suggest a neurodegenerative process confined to vasopressinergic neurons. Other forms of genetic neurohypophyseal DI include the very rare autosomal recessive type, also caused by mutations in the AVP gene, and complex multiorgan disorders, such as Wolfram syndrome. In all individuals where a congenital form of DI is suspected, including nephrogenic types, genetic analysis should be performed.

Diabetes insipidus.

Diabetes insipidus (DI) is characterized by hypotonic polyuria greater than 3 liters/24 hours in adults and persisting even during water deprivation. It is mostly due to a defect in arginin-vasopressin (AVP) synthesis (central DI); other causes are: AVP resistance (nephrogenic DI), abnormal thirst regulation (primary polydipsia) or early destruction of AVP by placental enzymes (gestational DI). A thorough medical history is warranted to investigate nocturnal persistence of polyuria (night waking being a good sign of its organic nature) to specify the onset and duration of the trouble, the medication use and the potential hereditary nature of the disorder. The next step is based on weight and blood pressure measurements and especially the quantification of beverages and diuresis over a 24-hour cycle. Assessment of signs of dehydration, bladder distention, pituitary hormone hyper- or hyposecretion, tumor chiasmatic syndrome, granulomatosis and cancer is required. The diagnosis is based on biological assessment, pituitary magnetic resonance imaging (MRI) and results of a desmopressin test. In severe forms of DI, urine osmolality remains below 250 mOsmol/kg and serum sodium greater than 145 mmol/L. In partial forms of DI (urine osmolality between 250 and 750), the water deprivation test demonstrating the incapacity to obtain a maximal urine concentration is valuable, together with vasopressin or copeptin measurement. The pituitary MRI is done to investigate the lack of spontaneous hyperintensity signal in the posterior pituitary, which marks the absence of AVP and supports the diagnosis of central DI rather than primary polydipsia (although not absolute); it can also recognize lesions of the pituitary gland or pituitary stalk. Acquired central DI of sudden onset should suggest a craniopharyngioma or germinoma if it occurs before the age of 30 years, and metastasis after the age of 50 years. Fifteen to 20% of head trauma lead to hypopituitarism, including DI in 2% of cases. Transient or permanent DI is present in 8-9% of endoscopic transphenoidal surgeries. Current advances in DI concern the etiological work-up, with in particular the identification of IgG4-related hypophysitis or many genetic abnormalities, opening the field of targeted therapies in the years to come.

Gestational diabetes insipidus: a review of an underdiagnosed condition.

OBJECTIVE: To review the etiology, diagnosis, and management of diabetes insipidus during pregnancy. DATA SOURCES: A search of the literature was performed in PubMed using key word searching and citation snowballing to identify articles published in English between January 1, 1980, and December 31, 2008, on the subject of diabetes insipidus during pregnancy. Once the articles were identified, a thorough review of all results was conducted. Results and conclusions were compiled and summarized. STUDY SELECTION: We reviewed 50 studies selected using the following key words: diabetes insipidus, pregnancy, arginine vasopressin, vasopressinase. CONCLUSION: Gestational diabetes insipidus is underdiagnosed because polyuria is often considered normal during pregnancy. Clinicians caring for pregnant women should consider screening for gestational diabetes insipidus, because it could be associated with serious underlying pathology.

Diabetes insipidus.

Diabetes insipidus is a metabolic disorder caused by a deficiency in the production of or response to arginine vasopressin (AVP). The lack of, or inability to appropriately respond to, AVP results in a lack of tubular reabsorption of water and urine of low specific gravity. Two main categories of diabetes insipidus are recognized in veterinary medicine: central and nephrogenic.

Síndrome de la Silla Turca Vacía con Panhipopituitarismo y diabetes insípida / Syndrome chear empty with panhypopituatarism and insipidus diabetes

Presentamos el caso de una niña de 1 año y 6 meses con baja talla, obesidad, panhipopituitarismo, diabetes insípida y trastornos visuales que en el examen postmortem mostró atrofia cerebral secundaria a una encefalopatía difusa, frecuentes neuronas calcificadas en corteza cerebral, núcleos de la base y, particularmente, en el hipotálamo, nervios ópticos con moderada atrofia, tallo hipofisario filiforme y silla turca vacía con hipófisis en el dorso de la concavidad. Se discute la probable patogenia de los hallazgos anatomopatológicos en el contexto de la literatura pertinente

Síndrome de la Silla Turca Vacía con Panhipopituitarismo y diabetes insípida / Syndrome chear empty with panhypopituatarism and insipidus diabetes

Presentamos el caso de una niña de 1 año y 6 meses con baja talla, obesidad, panhipopituitarismo, diabetes insípida y trastornos visuales que en el examen postmortem mostró atrofia cerebral secundaria a una encefalopatía difusa, frecuentes neuronas calcificadas en corteza cerebral, núcleos de la base y, particularmente, en el hipotálamo, nervios ópticos con moderada atrofia, tallo hipofisario filiforme y silla turca vacía con hipófisis en el dorso de la concavidad. Se discute la probable patogenia de los hallazgos anatomopatológicos en el contexto de la literatura pertinente

Mutations in the vasopressin V2 receptor gene in families with nephrogenic diabetes insipidus and functional expression of the Q-2 mutant.

Nephrogenic diabetes insipidus (NDI) is characterized by a resistance of the kidney towards arginine vasopressin (AVP). Following molecular cloning of the vasopressin V2 receptor, we identified different mutations in the V2 receptor gene in families with X-linked NDI, which segregated with the disease. The Hopewell mutation (W71X) causes the disease in the largest North American NDI pedigree, with most of its members residing on Nova Scotia. Different mutations were found in three families from the Quebec area (Q-2: R137H, Q-3: R113W, Q-5: 804delG) and in the large Cannon kindred residing in Utah (L312X). In an Iranian family (O-1), another mutation was detected (A132D). Three of the six mutations (Hopewell, Cannon, Q-5) are predicted to cause the expression of a truncated V2 receptor and are therefore unlikely to function. The functional consequences of missense mutations (Q-2, Q-3, O-1) are less obvious. We therefore introduced the Q-2 mutation into wild-type cDNA. When expressed in COS.M6 or Ltk cells, the Q-2 mutant bound AVP with normal affinity. However, cells expressing the Q-2 mutant failed to respond to AVP with an increase in adenylyl cyclase activity. Thus the Q-2 mutant is unable to interact with or to activate the stimulatory G-protein Gs. The present data indicate that X-linked NDI is frequently attributable to a mutation in the V2 receptor gene. In addition, the data prove biochemically that the Q-2 mutation is the cause of NDI in the Q-2 family.

Different types of postoperative diabetes insipidus and the relation to basal and stimulated serum prolactin levels in patients with hypothalamo-hypophyseal tumorous lesions.

To evaluate the interrelationships between anterior pituitary function and the antidiuretic system in patients harbouring hypothalamo-hypophyseal tumorous lesions, combined anterior pituitary stimulation tests were performed in the pre (n = 192 patients) and postoperative (n = 151 patients) state. Basal and stimulated plasma antidiuretic hormone, serum as well as urinary osmolality and diuresis were analyzed to determine the residual functional capacity of the antidiuretic system. In 106 patients with non-prolactin (PRL) secreting tumours basal and stimulated PRL secretion of the residual anterior pituitary was studied pre- and postoperatively. It was found that in the preoperative state latent (n = 12 patients) or manifest (n = 10 patients) types of diabetes insipidus (DI) were related to a significant decrease of maximal stimulated levels of thyroid stimulating hormone as well as basal and maximal stimulated levels of follicle stimulating hormone relative to patients without DI. In the postoperative state DI lasting longer than 10 days (n = 51 patients) was associated with decreased basal and maximal stimulated concentrations of cortisol, luteinizing and follicle stimulating hormone, whereas basal and maximal stimulated levels of PRL were significantly increased compared to those patients without DI (n = 61 patients). Decompression (n = 65 procedures) via the transnasal route was related with a lower frequency of the more severe types of DI (n = 7 patients) and a significant decrease of basal and maximal PRL levels in patients with non-PRL secreting tumours. The transcranial approach (n = 86 procedures) caused a higher rate of severe DI types (n = 33 patients) and an increase of PRL secretion from the residual anterior pituitary lobe. Patients without DI or DI of mild severity (n = 50), as a group, had a significant decrease of basal and maximal PRL levels compared with preoperative values (preoperative: basal = 14.3 +/- 1.5 ng/ml, max = 31.4 +/- 1.5 ng/ml, postoperative: basal = 9.6 +/- 1.1 ng/ml, max = 24.9 +/- 2.9 ng/ml). In patients with severer degrees of DI (n = 40) PRL levels were significantly increased, respectively (preoperative: basal = 15.3 +/- 3.1 ng/ml, max = 23.9 +/- 7.6 ng/ml, postoperative: basal = 19.7 +/- 3.4 ng/ml, max = 38.6 +/- 7.9 ng/ml). It was concluded that in the surgical treatment of non-PRL secreting hypothalamo-hypophyseal lesions the results of early postoperative assessment of basal and stimulated PRL levels may predict the type of postoperative DI.(ABSTRACT TRUNCATED AT 400 WORDS)

[Diabetes insipidus in infancy. II. Study of eleven cases (author's transl)]. / Diabetes insípida en la infancia. II. Casuística

Eleven cases of diabetes insipidus are revised and distributed in the following four groups: I. Idiopathic diabetes insipidus, three. II. Secondary diabetes insipidus, four. III. Nephrogenic diabetes insipidus, two. IV. Psychogenic diabetes insipidus, two. In all these cases, clinical parameters, general analysis, hydric metabolism (static and dinamic), are studied. The precocious beginning of psychogenic diabetes insipidus, and some conclusions, on a difficult case of hard diagnosis are emphasized.