Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P01185 (vasopressin)
 23,126 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Three patients, 11, 17 and 41 days old with various degrees of central nervous system (CNS) lesions developed central diabetes insipidus as a complication of hypothalamic damage. Two of the children had congenital CNS malformations including meningomyelocele, hydrocephalus, and prosencephaly, while the third child presented Streptococcus agalactiae meningitis, complicated with CNS hemorrhage and hypertensive dilatation of the lateral ventricles. All of them fulfilled the criteria for central diabetes insipidus, reaching high levels of serum sodium and osmolality, along with hypotonic urine. The responses to intranasal arginine-vasopressin were prompt, normalizing the serum levels of sodium and increasing urinary osmolality, allowing a better metabolic balance, avoiding continuing damage to the already compromised CNS. The neonatologist must be aware of the possibility of this kind of complication even in a normal child with CNS infection. Imaging studies showing hemorrhage in the region of the posterior hypothalamus must be a sign that this type of complication is able to occur.
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PMID:Central diabetes insipidus as a complication of neonatal pathology: report of three cases. 958 6

The cerebrospinal fluid (CSF)-generating choroid plexus (CP) has many V1 binding sites for arginine vasopressin (AVP). AVP decreases CSF formation rate and choroidal blood flow, but little is known about how AVP alters ion transport across the blood-CSF barrier. Adult rat lateral ventricle CP was loaded with 36Cl-, exposed to AVP for 20 min, and then placed in isotope-free artificial CSF to measure release of 36Cl-. Effect of AVP at 10(-12) to 10(-7) M on the Cl- efflux rate coefficient (in s-1) was quantified. Maximal inhibition (by 20%) of Cl- extrusion at 10(-9) M AVP was prevented by the V1 receptor antagonist [beta-mercapto-beta, beta-cyclopentamethyleneproprionyl1,O-Me-Tyr2,Arg8]vasopressin. AVP also increased by more than twofold the number of dark and possibly dehydrated but otherwise morphologically normal choroid epithelial cells in adult CP. The V1 receptor antagonist prevented this AVP-induced increment in dark cell frequency. In infant rats (1 wk) with incomplete CSF secretory ability, 10(-9) M AVP altered neither Cl- efflux nor dark cell frequency. The ability of AVP to elicit functional and structural changes in adult, but not infant, CP epithelium is discussed in regard to ion transport, CSF secretion, intracranial pressure, and hydrocephalus.
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PMID:AVP V1 receptor-mediated decrease in Cl- efflux and increase in dark cell number in choroid plexus epithelium. 988 23

A 79-year-old woman suffering from urinary incontinence and unsteady gait was diagnosed as having idiopathic normal pressure hydrocephalus (NPH) with hyponatremia due to the syndrome of inappropriate secretion of antidiuretic hormone (SIADH). The concentration of antidiuretic hormone was high while the plasma osmolality was low in the presence of concentrated urine during the episodes of hyponatremia. Magnetic resonance imaging (MRI) of the head showed enlargement of the third and lateral ventricles. After ventriculoperitoneal shunt surgery, the symptoms of NPH and hyponatremia improved. It may be possibly explained that mechanical pressure on the hypothalamus from the third ventricle is responsible for hyponatremia.
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PMID:Syndrome of inappropriate secretion of antidiuretic hormone associated with idiopathic normal pressure hydrocephalus. 1033 45

Under normal physiological conditions the cerebrospinal fluid (CSF) is secreted continuously, although this secretion undergoes circadian variations. Mechanisms operating at the vascular side of the choroidal cells involve a sympathetic and a cholinergic innervation, with the former inhibiting and the latter stimulating CSF secretion. There are also regulatory mechanisms operating at the ventricular side of the choroidal cells, where receptors for monoamines such as dopamine, serotonin, and melatonin, and for neuropeptides such as vasopressin, atrial natriuretic hormone, and angiotensin II, have been identified. These compounds, that are normally present in the CSF, participate in the regulation of CSF secretion. Although the mechanisms responsible for the CSF circulation are not fully understood, several factors are known to play a role. There is evidence that the subcommissural organ (SCO)--Reissner's fiber (RF) complex is one of the factors involved in the CSF circulation. In mammals, the predominant route of escape of CSF into blood is through the arachnoid villi. In lower vertebrates, the dilatation of the distal end of the central canal, known as terminal ventricle or ampulla caudalis, represents the main site of CSF escape into blood. Both the function and the ultrastructural arrangement of the ampulla caudalis suggest that it may be the ancestor structure of the mammalian arachnoid villi. RF-glycoproteins reaching the ampulla caudalis might play a role in the formation and maintenance of the route communicating the CSF and blood compartments. The SCO-RF complex may participate, under physiological conditions, in the circulation and reabsorption of CSF. Under pathological conditions, the SCO appears to be involved in the pathogeneses of congenital hydrocephalus. Changes in the SCO have been described in all species developing congenital hydrocephalus. In these reports, the important question whether the changes occurring in the SCO precede hydrocephalus, or are a consequence of the hydrocephalic state, has not been clarified. Recently, evidence has been obtained indicating that a primary defect of the SCO-RF complex may lead to hydrocephalus. Thus, a primary and selective immunoneutralization of the SCO-RF complex during the fetal and early postnatal life leads to absence of RF, aqueductal stenosis, increased CSF concentration of monoamines, and a moderate but sustained hydrocephalus.
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PMID:Subcommissural organ, cerebrospinal fluid circulation, and hydrocephalus. 1124 68

We present an infant who underwent endoscopic third ventriculostomy due to symptomatic hydrocephalus secondary to aqueductal stenosis. This is the first reported case of inappropriate secretion of antidiuretic hormone complicated by hyponatriemia and seizures following endoscopic surgery. The possibility of such a neuroendoscopic complication should alert neurosurgeons and close observation of serum electrolytes is highly recommended in the acute postoperative period, particularly in infants.
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PMID:Transient hyponatriemia complicated by seizures after endoscopic third ventriculostomy. 1127 Aug 29

Endoscopic third ventriculostomy has been found to be successful for treating occlusive hydrocephalus. The complication rate ranges from 6 to 12%. Intraoperative bleeding is the most common incident. Endocrinological failures are rare, mainly due to the proximity of the hypothalamic structures. We report the case of a 33-year-old man who was referred in emergency for subacute hydrocephalus related to a tentorium meningioma. The hydrocephalus was treated by endoscopic third ventriculostomy. During the procedure, the floor of the third ventricle was found to be thick but fenestration was performed without incident. After surgery, the clinical signs of hydrocephalus disappeared but diabetes insipidus was diagnosed the same day. There were no other endocrinology disorders. Medical treatment with vasopressin allowed resolution of the diabetes insipidus in fifteen days. Surgical debulking of the meningioma was then achieved via a subtemporal approach. There was no recurrence of the endocrinology disorder. Diabetes insipidus is an unpredictable complication of third ventriculostomy. The mechanism is not well known. It is however a transient disorder that can easily be treated with vasopresin and therefore should not modify the indications of third ventriculostomy, especially in tumor-related hydrocephalus.
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PMID:[Diabetes insipidus after endoscopic third ventriculostomy. A case report and review of the literature]. 1149 73

Cerebral salt wasting syndrome (CSWS) is a syndrome of hyponatremia and natriuresis described in patients with intracranial diseases. We describe a 3-year-old boy with tuberculous meningitis complicated by hydrocephalus and CSWS and emphasize the different clinical presentation and management of patients with CSWS and the syndrome of inappropriate secretion of antidiuretic hormone.
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PMID:Tuberculous meningitis complicated with hydrocephalus and cerebral salt wasting syndrome in a three-year-old boy. 1536 36

A previously healthy 30-day-old girl presented with seizures, irritability and inability to sleep for three days. Vitamin K was not given just after birth. She was lethargic. A multifocal clonic seizure was evident during examination. Anisocoria was diagnosed on eye examination. Brain magnetic resonance imaging showed intracerebral hemorrhage, ventricular dilatation, and hematoma in the left temporofrontal region extending to the hypothalamus. Central diabetes insipidus was diagnosed by water deprivation due to dehydration and hypernatremia, and then desmopressin was added to phenobarbital. The possible mechanism of central diabetes insipidus in our patient is damage of vasopressin pathway resulting from compression of hemorrhage. An operation of ventriculoperitoneal shunt was also performed due to hydrocephalus. While she was symptom-free except for neurological sequel during routine control examinations after discharging from hospital, the parents said that she died, most probably from bronchopneumonia, at the age of 7.5 months. In conclusion, we emphasize that prophylactic vitamin K should be administrated to all babies just after birth, and infants with intracranial hemorrhage should carefully be monitored for central diabetes insipidus.
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PMID:Central diabetes insipidus following intracranial hemorrhage due to vitamin K deficiency in a neonate. 1630 78

X-linked hydrocephalus with aqueductal stenosis (HSAS) is caused by mutation or deletion of the L1 cell adhesion molecule gene (L1CAM) at Xq28. Central diabetes insipidus (CDI) can arise as a consequence of resultant hypothalamic dysfunction from hydrocephalus and must be distinguished from nephrogenic diabetes insipidus (NDI) by exogenous vasopressin response. Causes of NDI are heterogeneous and include mutation or deletion of the arginine vasopressin receptor 2 gene (AVPR2), which is located approximately 29 kb telomeric to L1CAM. We identified a patient with both HSAS and NDI where DNA sequencing failure suggested the possibility of a contiguous gene deletion. A 32.7 kb deletion mapping from L1CAM intron1 to AVPR2 exon2 was confirmed. A 90 bp junctional insertion fragment sharing short direct repeat homology with flanking sequences was identified. To our knowledge this is the first reported case of an Xq28 microdeletion involving both L1CAM and AVPR2, defining a new contiguous gene syndrome comprised of HSAS and NDI. Contiguous gene deletion should be considered as a mechanism for all patients presenting with hydrocephalus and NDI.
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PMID:Contiguous gene deletion involving L1CAM and AVPR2 causes X-linked hydrocephalus with nephrogenic diabetes insipidus. 1731 48

We report the first case of Alexander disease diagnosed and published in the region of former Czechoslovakia. The case was characterized by early (late infantile) onset, the absence of megacephaly but with extensive internal hydrocephaly, despite a patent aqueduct. Neuropathology revealed severe depletion ofoligodendroglia and myelin, loss of axons, prominent astrocytosis with massive intracellular, dense globular GFAP aggregates which differed from typical Rosenthal fibers. Additionally, many large aggregates of GFAP were located extracellularly. Globular GFAP aggregates were also identified in neurohypophyseal pituicytes. DNA analysis disclosed a heterozygous mutation c.1117G>A in the GFAP, which is predicted to lead to the amino acid exchange p.Glu-373Lys (E373K) in the C-terminal tail of the GFAP protein. The parents and a healthy sister did not show any variation in GFAP in somatic cells.
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PMID:Early onset Alexander disease: a case report with evidence for manifestation of the disorder in neurohypophyseal pituicytes. 1840 84


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