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The rare association of diabetes mellitus and vasopressin sensitive diabetes insipidus found in 5 patients attending the Institute of Endocrinology and Metabolic Diseases in a ten-year period is reported. Suspicious signs and criteria for diagnosis were discussed and a brief review made on the pathogenesis and treatment of this association.
A case of transient diabetes insipidus in pregnancy occurring in a 26 year-old woman is reported, and possible mechanisms leading to this disorder are considered. Delivery of a healthy boy was uneventful after induction of labor with prostin, and the condition remitted spontaneously shortly after delivery, following a short period of exogenous desmopressin administration. A water deprivation test confirmed undetectable serum ADH values, presumably due to temporary inappropriate ADH secretion or excessive vasopressinase activity.
Diabetes insipidus (DI) is thought to be a relatively common complication after craniotomy procedures. To identify subsets of patients at risk for this problem, the postoperative courses of 135 consecutive patients undergoing craniotomy were scrutinized retrospectively. All patients received similar anesthetic management and all were hospitalized in the ICU postoperatively. DI developed in 9 (5 transient, 4 permanent) of 135 patients (6.7%). All 9 patients developing DI had undergone craniotomy for treatment of a pituitary disorder. It is concluded that postcraniotomy DI is a problem almost exclusively observed in patients with pituitary/hypothalamic disease and that DI rarely occurs in patients with other types of intracranial pathology.
Autosomal dominant familial neurohypophyseal diabetes insipidus (adFNDI) is a rare disorder caused by progressive postnatal arginine vasopressin (AVP) deficiency resulting from mutations in the AVP gene encoding the AVP pre-prohormone. It has been suggested that these mutations exert their effect on the cellular handling of the AVP prohormone by leading to the synthesis of mutant hormone precursor that fails to be processed and/or folded properly in the endoplasmic reticulum (ER). As a consequence, it is retained by the ER protein quality control machinery resulting in protein accumulation and initiation of cellular processes leading to degeneration of the AVP producing neuron. This review summarizes the current knowledge on adFNDI and discusses different hypotheses concerning its pathogenesis.
Nephrogenic Diabetes Insipidus (NDI) is characterised by the inability of the kidneys to concentrate urine in response to arginine vasopressin (AVP). Such patients typically experience polyuria and polydipsia because of this inability to autoregulate their water balance. This provides a perioperative challenge that could lead to a life-threatening situation. This article documents a patient with NDI who underwent an elective bowel re-anastomosis. Two peak serum sodium values were attained. The first when the patient was retaining sodium due to an inappropriate fluid regimen and the second due to hypovolaemia. The literature is reviewed and principles for NDI perioperative management are proposed.
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Nephrogenic diabetes insipidus occurred in a 7-year-old child who had received a high dose of demethylchlortetracycline hydrochloride (DMC). The patient had a relatively elevated urinary sodium concentration in addition to isosthenuria. The nephrogenic diabetes insipidus was completely reversible within one month after cessation of DMC administration.
X-linked nephrogenic diabetes insipidus (NDI) is a rare disorder in which the kidney is insensitive to the antidiuretic hormone, vasopressin. It has been proposed that the kidney-specific V2 vasopressin receptor, a G protein-coupled receptor, is defective in this disorder as both the disease and the receptor map to Xq28. We report six unique mutations in the V2 receptor gene of five unrelated NDI patients, with one patient having two mutations. The most severely affected patient has a nonsense mutation which would terminate the protein in transmembrane domain III. Other mutations include three missense mutations, a frameshift and one small in-frame deletion. These results represent one of the first examples of recessive mutations affecting a G protein-coupled receptor.
Central diabetes insipidus (DI) can be the outcome of a number of diseases that affect the hypothalamic-neurohypophyseal axis. The causes of the condition can be classified as traumatic, inflammatory, or neoplastic. Traumatic causes include postoperative sella or transection of the pituitary stalk, while infectious or inflammatory causes include meningitis, lymphocytic hypophysitis, and granulomatous inflammations such as sarcoidosis and Wegener's granulomatosis. Various neoplastic conditions such as germinoma, Langerhans cell histiocytosis, metastasis, leukemic infiltration, lymphoma, teratoma, pituitary adenoma, craniopharyngioma, Rathke cleft cyst, hypothalamic glioma, and meningioma are also causes of central DI. In affected patients, careful analysis of these MR imaging features and correlation with the clinical manifestations can allow a more specific diagnosis, which is essential for treatment.
Diabetes insipidus (DI) is a disorder characterized by polyuria, polydipsia and increased thirst [1] while pituitary DI is a syndrome that is known to result from deficient release of the antidiuretic hormone (ADH) [2,3]. Trauma to the neurohypophysis (operational or accidental) is the most common cause of DI. Primary or metastatic intracranial tumors are the second most common cause of DI. Among the less frequent causes are the granulomatous lesions or infections of the central nervous system, drugs and vascular lesions [2]. In 30-40% of the patients, there is no identifiable cause (idiopathic DI). Idiopathic thrombocytopenic purpura (ITP) is an immunologically mediated destructive thrombocytopenia. The clinical diagnosis is made after excluding the presence of other disorders that are known to be associated with shortened platelet survival [4]. In this paper two cases of DI and ITP are described.
X-linked nephrogenic diabetes insipidus (NDI) is a rare disease caused by mutations in the vasopressin V2 receptor (AVPR2) gene. We analyzed the AVPR2 gene in 6 unrelated Korean families with X-linked NDI, and found 6 novel mutations. Two of them were missense point mutations, 2 were short deletions causing frameshifts, 1 was a duplication of 9 bases, and 1 was a compound gene rearrangement. Four mutations cosegregated with the clinical phenotype in corresponding family members, and one was a de novo mutation. In 1 family, prenatal diagnosis was made by amniocentesis. In conclusion, we found 6 novel mutations in the AVPR2 gene causing X-linked NDI in 6 families, and direct mutational analysis is now applicable for carrier detection and early (prenatal) diagnosis.
Cranial diabetes insipidus (DI) arises when release of arginine vasopressin (AVP, antidiuretic hormone) in response to osmotic stimuli is inadequate. The correct diagnosis and management of cranial DI is particularly important when it arises as an acute complication of surgery, trauma or in subjects who lack thirst sensation. Desmopressin (1-desamino-8-D-arginine-vasopressin, DDAVP) provides an effective and convenient replacement therapy when given by the intranasal route. However, nasal administration is difficult for some patients, and in the future oral or transcutaneous desmopressin formulations may prove to be satisfactory alternatives. By contrast, treatments for nephrogenic DI, where there is failure of the antidiuretic response to endogenous or exogenous vasopressin, have been disappointing and water replacement remains the mainstay of therapy. An understanding of the physiology and pathophysiology of water homeostasis and correct interpretation of water balance and electrolyte data are essential for correct diagnosis and management of all cases of DI.
Families with congenital nephrogenic diabetes insipidus were analyzed with regard to mutations in the vasopressin V2 receptor gene. Family 1 shows an X-chromosomal recessive inheritance of the disease over 4 generations. A patient from this family was found to have a T-->A transversion at nucleotide 1095, predictive for a substitution of serine 167 (which is highly conserved among G-protein-coupled receptors), by threonine. Both the mutant and the normal allele were detected in the maternal genome. The patient's healthy brother was homozygous for the normal allele. The patient from family 2 showed a T-->C transition at nucleotide 727, predictive for a substitution of leucine 44 by proline. Analysis of the maternal genome revealed homozygosity for the normal allele. Thus a de novo mutation seems to have occurred. The nature and site of the mutation in family 2 suggest that it is responsible for the patient's disease.
Thirty patients with central diabetes insipidus were treated with 1-deamino-9-D-arginine vasopressin (DDAVP) during the period of 3--10 years. DDAVP was applicated in 1--3 intranasal doses daily. The dosage varied between 7--42 microgram/24 h. The diuresis before the treatment ranged between 28,000--7,600 ml/24 h (mean 13,883 ml/24 h) and was decreased by DDAVP below 2000 ml/24 h in 21 patients (70%) and to 2000--4000 ml/24 h in 8 patients (26.6%). In a single case it was not possible to reduce the diuresis from 20,000 ml below 8,000 ml/24 h. Favourable properties of DDAVP: absence of reduction of potency, lack of important side-effects and prolonged action were not lost even in the course of the long term treatment. No harmful effects of DDAVP were noted. Blood count as well as renal function tests were not affected by the treatment. All the patients preferred DDAVP to their previous therapy.
X-linked nephrogenic diabetes insipidus (NDI) is a rare inherited disorder caused by mutations in the arginine vasopressin receptor 2 (V2R) gene. The clinical phenotype is fully expressed in hemizygous male patients and is usually asymptomatic in heterozygous females. In the present study, a 51-yr-old Japanese female with congenital NDI and her family members were examined. The patient developed severe hypernatremia accompanied by hypoosmotic polyuria after gynecological surgery, and was unable to concentrate urinary osmolality in response to exogenous vasopressin. Direct sequencing analysis of the propositus and her two affected sons revealed a two-nucleotide deletion change at codon 30 (g.452-453delAC) in the V2R gene, resulting in a frameshift and premature termination in translation at codon 190. The X chromosome inactivation pattern was investigated in the propositus using methylation analysis of the polymorphic CAG repeat in the androgen receptor gene, and the value for relative X chromosome inactivation of one allele was 70.2%. In conclusion, we identified a novel V2R gene mutation in a female patient and her sons with congenital NDI, and her phenotype may be caused by skewed X chromosome inactivation.
Rats with hereditary hypothalamic diabetes insipidus, devoid of endogenous ADH, exhibited a prompt antidiuresis when injected subcutaneously or intraarterially with ovine prolactin. The antidiuresis was accompanied by a decrease in free water clearance and an increase in urine osmolality without a change in osmolal clearance or creatinine excretion. Measurement of PAH and insulin clearances indicated that prolactin had no effect on renal plasma flow or glomerular filtration rate. Prolactin injection caused a transient decrease in urinary sodium excretion, but proximal tubular sodium reabsorption, estimated by lissamine green transit time, was unaffected. The antidiuretic effect of prolactin could not be attributed to ADH contamination of the ovine prolactin preparation. Kidney cyclic AMP content was increased significantly 5 min after injection of prolactin. Thus, prolactin has an antidiuretic effect similar to that which occurs as a result of ADH action on the kidney and does not require either the release or the presence of ADH in order to cause the antidiuresis. Further, the impaired water excretion cannot be attributed to an increase in proximal tubular sodium reabsorption or to alteration of renal hemodynamics. It is suggested that prolactin has a direct ADH-like action on the kidney resulting in antidiuresis.
INTRODUCTION: Diabetes insipidus (DI) is a syndrome characterised by polyuria which is almost always associated with polydipsia. The most frequent cause is central DI, which is the result of an inadequate secretion of the diuretic hormone, and diagnosis involves differentiating it from other causes of polyuria and polydipsia. CASE REPORT: The authors report the clinical case of a previously healthy 4 year old girl, who, in December 1998, was found to have intense polydipsia accompanied by polyuria. Behavioural treatment was begun as an answer to what was thought to be psychogenic polydipsia, although results were unsatisfactory and the patient was brought to the Paediatric Nephrology Service at Hospital Maria Pia in June 1999. CONCLUSION: A clinical study, which included the water restriction test and concentration tests with desmopressin, enabled us to diagnose central DI. In spite of the results from a cranial NMR scan being normal, follow up time is still too short to classify the aetiology as idiopathic. The girl is asymptomatic under treatment with intranasal desmopressin. The favourable evolution in this case highlights the need to act in a thorough manner in the study of situations involving polyuria/polydipsia.