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

There is an increasing interest on one of the smallest human chromosomes as it is shown by the First International Symposium on the Human Chromosome 20 and by the genetic map prepared by EUROGEN. The conserved part of the long arm of human chromosome 20 is synthenic with the distal part of the mouse chromosome 2 allowing for some analogies between them. Human chromosome 20 contains several important genes for the human pathology. Mutations of one of them, the vasopressin-neurophysin II gene, are responsible for hereditary neurohypophyseal diabetes insipidus. Severe combined immunodeficiency due to adenosin deaminase deficiency is the first human disorder successfully treated by somatic gene therapy. Spongiform encephalopathies are related to mutation and/or polymorphisms of the PRNP amyloid gene. One form of benign familiar neonatal convulsions is mapped to a specific locus on chromosome 20. In some families, maturity onset diabetes of the young (MODY) is caused by alterations of a hypothetical gene closely linked to the ADA locus. Allegile syndrome is often associated with deletions and microdeletions of the short arm of the chromosome. Finally, deletions of the long arm of the chromosome is a frequent finding in several hematologic malignities, specifically in myeloproliferative disorders and myelodysplastic syndromes.
 ...
PMID:[The human genome--chromosome 20]. 748 83

Central diabetes insipidus (DI) is a rare but recognized complication of myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) that is caused by leukemic infiltration to the hypothalamo-neurohypophyseal system. In rare patients in whom a wide region of the hypothalamus is involved, central DI results in hypodipsic hypernatremia and dehydration. Typical DI symptoms such as polydipsia, polyuria, and marked thirst are concealed in these cases, because the hypothalamic "thirst center" cannot send thirst stimuli to the cerebral cortex. Herein we describe a patient with MDS developing into AML, who presented with hypodipsic hypernatremia and dehydration. A diagnosis of central DI was made on the ground of a low level of serum anti-diuretic hormone (ADH) despite high serum osmolality. A magnetic resonance imaging study revealed attenuation of a physiological "bright spot" of the neurohypophysis. An induction course chemotherapy including regular-dose cytarabine and daunorubicin produced a rapid improvement of hypernatremia. The bone marrow aspirate after two courses of chemotherapy showed complete remission. At that point, ADH release and the "bright spot" were recovered. In order to correctly diagnose central DI in association with hematological malignancies, we should not overlook this atypical type of DI.
 ...
PMID:Myelodysplastic syndrome with central diabetes insipidus manifesting hypodipsic hypernatremia and dehydration. 1505 12

Syndrome of inappropriate antidiuretic hormone secretion (SIADH) is a common cause of hyponatremia in cancer patients. It is most frequently reported in association with small-cell lung cancer, but has been reported in other cancers as well. Here we report the case of a patient with myelodysplastic syndrome and blast crisis who developed concurrent hyponatremia. The patient failed to respond to fluid restriction and administration of hypertonic saline. She was treated with tolvaptan, a vasopressin antagonist licensed for the treatment of adult patients with hyponatremia secondary to syndrome of inappropriate antidiuretic hormone secretion. We conclude that in myelodysplastic syndrome patients with blast crisis, inappropriate antidiuretic hormone secretion should be considered as a cause of hyponatremia and be treated with tolvaptan.
 ...
PMID:Tolvaptan for SIADH in Myelodysplastic Syndrome with Blast Crisis. 2675 59

Sweet disease may occur in several organs, and central nervous system involvement, known as Neuro-Sweet disease (NSD), is rare. The clinical features of NSD include recurrent encephalomeningitis accompanied by fever and erythematous plaques; systemic corticosteroid therapy is highly effective. Syndrome of inappropriate antidiuretic hormone secretion (SIADH) is an important electrolyte abnormality because it can be life-threatening. We describe the first case of SIADH and NSD associated with low-risk myelodysplastic syndrome that was successfully treated with corticosteroids and cyclosporine. The patient has remained stable for 1 year without any recurrence.
 ...
PMID:Successful Treatment of Syndrome of Inappropriate Antidiuretic Hormone Secretion Associated with Neuro-Sweet Disease in Myelodysplastic Syndrome. 2922 51