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American Journal of Physiology. Renal... Nov 2018The antidiuretic hormone vasopressin (VP) is produced by the hypothalamus and is stored and secreted from the posterior pituitary. VP acts via VP type 2 receptors (V2Rs)... (Review)
Review
The antidiuretic hormone vasopressin (VP) is produced by the hypothalamus and is stored and secreted from the posterior pituitary. VP acts via VP type 2 receptors (V2Rs) on the basolateral membrane of principal cells of the collecting duct (CD) to regulate fluid permeability. The VP-evoked endocrine pathway is essential in determining urine concentrating capability. For example, a defect in any component of the VP signaling pathway can result in polyuria, polydipsia, and hypotonic urine, collectively termed diabetes insipidus (DI). A lack of VP production precipitates central diabetes insipidus (CDI), which can be managed effectively by VP supplementation. A majority of cases of nephrogenic diabetes insipidus (NDI) result from V2R mutations that impair receptor sensitivity. No specific therapy is currently available for management of NDI. Evidence is evolving that (pro)renin receptor (PRR), a newly identified member of the renin-angiotensin system, is capable of regulating VP production and action. As such, PRR should be considered strongly as a therapeutic target for treating CDI and NDI. The current review will summarize recent advances in understanding the physiology of renal and central PRR as it relates to the two types of DI.
Topics: Animals; Antidiuretic Agents; Diabetes Insipidus; Diuresis; Genetic Predisposition to Disease; Humans; Kidney; Mutation; Phenotype; Receptors, Cell Surface; Receptors, Vasopressin; Renin-Angiotensin System; Vasopressins; Prorenin Receptor
PubMed: 30019932
DOI: 10.1152/ajprenal.00266.2018 -
Journal of Medical Case Reports Oct 2020Disorders of water and sodium balance can occur after brain injury. Prolonged polyuria resulting from central diabetes insipidus and cerebral salt wasting complicated by...
BACKGROUND
Disorders of water and sodium balance can occur after brain injury. Prolonged polyuria resulting from central diabetes insipidus and cerebral salt wasting complicated by gradient washout and a type of secondary nephrogenic diabetes insipidus, however, has not been described previously, to the best of our knowledge. We report an unusual case of an infant with glioblastoma who, after tumor resection, was treated for concurrent central diabetes insipidus and cerebral salt wasting complicated by secondary nephrogenic diabetes insipidus.
CASE PRESENTATION
A 5-month-old Hispanic girl was found to have a large, hemorrhagic, suprasellar glioblastoma causing obstructive hydrocephalus. Prior to mass resection, she developed central diabetes insipidus. Postoperatively, she continued to have central diabetes insipidus and concurrent cerebral salt wasting soon after. She was managed with a vasopressin infusion, sodium supplementation, fludrocortisone, and urine output replacements. Despite resolution of her other major medical issues, she remained in the pediatric intensive care unit for continual and aggressive management of water and sodium derangements. Starting on postoperative day 18, her polyuria began increasing dramatically and did not abate with increasing vasopressin. Nephrology was consulted. Her blood urea nitrogen was undetectable during this time, and it was thought that she may have developed a depletion of inner medullary urea and osmotic gradient: a "gradient washout." Supplemental dietary protein was added to her enteral nutrition, and her fluid intake was decreased. Within 4 days, her blood urea nitrogen increased, and her vasopressin and fluid replacement requirements significantly decreased. She was transitioned soon thereafter to subcutaneous desmopressin and transferred out of the pediatric intensive care unit.
CONCLUSIONS
Gradient washout has not been widely reported in humans, although it has been observed in the mammalian kidneys after prolonged polyuria. Although not a problem with aquaporin protein expression or production, gradient washout causes a different type of secondary nephrogenic diabetes insipidus because the absence of a medullary gradient impairs water reabsorption. We report a case of an infant who developed complex water and sodium imbalances after brain injury. Prolonged polyuria resulting from both water and solute diuresis with low enteral protein intake was thought to cause a urea gradient washout and secondary nephrogenic diabetes insipidus. The restriction of fluid replacements and supplementation of enteral protein appeared adequate to restore the renal osmotic gradient and efficacy of vasopressin.
Topics: Animals; Brain Injuries; Child; Diabetes Insipidus, Nephrogenic; Diabetes Insipidus, Neurogenic; Diabetes Mellitus; Female; Humans; Infant; Kidney; Sodium
PubMed: 33036650
DOI: 10.1186/s13256-020-02536-0 -
Journal of the Royal College of... 1998
Review
Topics: Deamino Arginine Vasopressin; Diabetes Insipidus; Female; Humans; Hypoglycemic Agents; Male; Prognosis; Vasopressins
PubMed: 9597622
DOI: No ID Found -
British Medical Journal Apr 1972
Review
Topics: Body Weight; Dehydration; Diabetes Insipidus; Diagnosis, Differential; Humans; Hypertonic Solutions; Injections, Intramuscular; Injections, Intravenous; Isotonic Solutions; Nicotine; Polyuria; Smoking; Sodium Chloride; Sulfonylurea Compounds; Thirst; Vasopressins
PubMed: 4553944
DOI: 10.1136/bmj.2.5807.210 -
AJNR. American Journal of Neuroradiology 1991Diabetes insipidus is a clinical syndrome characterized by the excretion of copious volumes of dilute urine combined with persistent intake of abnormally large... (Review)
Review
Diabetes insipidus is a clinical syndrome characterized by the excretion of copious volumes of dilute urine combined with persistent intake of abnormally large quantities of fluid. There are two general forms of the disease, central (vasopressin deficient) and nephrogenic (vasopressin resistant). Diabetes insipidus of central origin most often results from lesions in the hypothalamic-neurohypophyseal axis. Twenty-six cases of central diabetes insipidus were evaluated with the use of high-field-strength MR imaging. A wide variety of precipitating conditions were found, including Langerhans cell histiocytosis, neoplasia, trauma, and infection. A thickened pituitary infundibulum was seen in most patients, and an absence of high intensity signal in the posterior pituitary lobe on T1-weighted images was seen in every case. 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. When combined with clinical information, MR imaging is able to provide a specific diagnosis in almost all cases of central diabetes insipidus.
Topics: Adolescent; Adult; Aged; Brain; Child; Child, Preschool; Diabetes Insipidus; Female; Humans; Infant; Magnetic Resonance Imaging; Male; Middle Aged; Retrospective Studies
PubMed: 2058510
DOI: No ID Found -
Archives of Endocrinology and Metabolism Nov 2022" (Juliet, from by William Shakespeare). Shakespeare's implication is that a name is nothing but a word and it therefore represents a convention with no intrinsic...
" (Juliet, from 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 endocrine pediatric 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.
Topics: Humans; Child; Diabetes Insipidus; Arginine Vasopressin; Diabetes Mellitus
PubMed: 36219203
DOI: 10.20945/2359-3997000000528 -
Neurology India 2020Patients with pituitary masses who undergo transsphenoidal resection are at risk for a number of medical complications postoperatively. Among these are disturbances in... (Review)
Review
Patients with pituitary masses who undergo transsphenoidal resection are at risk for a number of medical complications postoperatively. Among these are disturbances in fluid and sodium homeostasis, including diabetes insipidus (DI) and syndrome of inappropriate secretion of antidiuretic hormone (SIADH). It is believed that these pathologic states are a result of damage to the hypothalamic-pituitary axis from surgery, as are the downstream consequences, such as the triple phase response. The triple-phase response describes the pattern of initial acute DI, subsequent rebound SIADH, and eventual chronic DI, the pathophysiology of which is described. Given the medical complexity of managing postoperative pituitary patients, it is essential to develop dedicated postoperative management protocols. Here, we describe the University of Utah's postoperative pituitary management protocol that includes immediate postoperative monitoring, treatment of DI, surveillance for the triple-phase response after discharge with outpatient serum sodium checks, and involvement of the endocrinology service for assistance with management of hypopituitarism. A complete understanding of the relevant anatomy, physiology, and development of standardized protocols for postoperative management can aid with minimizing medical complications after pituitary surgery.
Topics: Diabetes Insipidus; Disease Management; Humans; Inappropriate ADH Syndrome; Neurosurgical Procedures; Pituitary Gland; Pituitary Neoplasms; Postoperative Complications; Water-Electrolyte Balance
PubMed: 32611899
DOI: 10.4103/0028-3886.287679 -
European Journal of Endocrinology Jul 2020COVID-19 has changed the nature of medical consultations, emphasizing virtual patient counseling, with relevance for patients with diabetes insipidus (DI) or...
COVID-19 has changed the nature of medical consultations, emphasizing virtual patient counseling, with relevance for patients with diabetes insipidus (DI) or hyponatraemia. The main complication of desmopressin treatment in DI is dilutional hyponatraemia. Since plasma sodium monitoring is not always possible in times of COVID-19, we recommend to delay the desmopressin dose once a week until aquaresis occurs allowing excess retained water to be excreted. Patients should measure their body weight daily. Patients with DI admitted to the hospital with COVID-19 have a high risk for mortality due to volume depletion. Specialists must supervise fluid replacement and dosing of desmopressin. Patients after pituitary surgery should drink to thirst and measure their body weight daily to early recognize the development of the postoperative syndrome of inappropriate antidiuresis (SIAD). They should know hyponatraemia symptoms. The prevalence of hyponatraemia in patients with pneumonia due to COVID-19 is not yet known, but seems to be low. In contrast, hypernatraemia may develop in COVID-19 patients in ICU, from different multifactorial reasons, for example, due to insensible water losses from pyrexia, increased respiration rate and use of diuretics. Hypernatraemic dehydration may contribute to the high risk of acute kidney injury in COVID-19. IV fluid replacement should be administered with caution in severe cases of COVID-19 because of the risk of pulmonary oedema.
Topics: Antidiuretic Agents; Brain Injuries; COVID-19; Coronavirus Infections; Deamino Arginine Vasopressin; Dehydration; Diabetes Insipidus; Diabetes Insipidus, Neurogenic; Disease Management; Fluid Therapy; Humans; Hypernatremia; Hyponatremia; Hypotonic Solutions; Inappropriate ADH Syndrome; Neurosurgical Procedures; Pandemics; Pneumonia, Viral; Postoperative Complications; Practice Guidelines as Topic; Saline Solution; Shock
PubMed: 32380474
DOI: 10.1530/EJE-20-0338 -
Endocrine Journal Apr 2021This Review Article overviews the literature on diabetes insipidus (DI) associated with pregnancy and labor in Japan published from 1982 to 2019. The total number of... (Review)
Review
This Review Article overviews the literature on diabetes insipidus (DI) associated with pregnancy and labor in Japan published from 1982 to 2019. The total number of patients collected was 361, however, only one-third of these cases had detailed pathophysiologic information enabling us to identify the respective etiology and subtype. Pregnancy-associated DI can be divided into 3 etiologies, central (neurogenic) DI, nephrogenic DI, and excess vasopressinase-associated DI. Neurogenic DI has various causes: for example, DI associated with tumoral lesions in the pituitary and neighboring area, DI associated with Sheehan's syndrome and/or pituitary apoplexy, and DI associated with lymphocytic infundibuloneurohypophysitis (LINH, stalkitis). Nephrogenic DI results from defective response of the kidney to normal levels of vasopressin. However, the most interesting causal factor of pregnancy-associated DI is excess vasopressinase, caused either by excess production of vasopressinase by the placenta or defective clearance of vasopressinase by the liver. Hepatic complications resulting in pregnancy-associated DI include acute fatty liver of pregnancy (AFLP) and HELLP syndrome (syndrome of hemolysis, elevated liver enzymes, low platelets), as well as pre-existing or co-incidental hepatic diseases. A possible role of glucose uptake in putative stress-induced DI and the importance of correct diagnosis and treatment of pregnancy-associated DI, including use of 1-deamino 8-D arginine vasopressin, are also discussed.
Topics: Adult; Cystinyl Aminopeptidase; Diabetes Insipidus; Female; Humans; Japan; Pregnancy
PubMed: 33775975
DOI: 10.1507/endocrj.EJ20-0745 -
The Journal of Clinical Endocrinology... Jul 2019The transcription factor RAX is a paired-type homeoprotein that plays a critical role in eye and forebrain development of vertebrate species. RAX knockout mice have...
CONTEXT
The transcription factor RAX is a paired-type homeoprotein that plays a critical role in eye and forebrain development of vertebrate species. RAX knockout mice have anophthalmia, cleft palate, and an abnormal hypothalamus and display perinatal lethality. In humans, homozygous or compound heterozygous RAX mutations have been reported to cause bilateral microphthalmia or anophthalmia without consistent associated features. Congenital hypopituitarism can be associated with various eye or craniofacial anomalies; however, the co-occurrence of congenital hypopituitarism, anophthalmia, cleft palate, and diabetes insipidus has been very rare.
RESULTS
We report the case of a child with anophthalmia, congenital hypopituitarism, diabetes insipidus, and bilateral cleft lip and palate who had a homozygous frameshift truncating mutation c.266delC (p.Pro89Argfs*114) in exon 1 of the RAX gene. Rax knockout mice show loss of ventral forebrain structures, pituitary, and basosphenoid bone and palate and a misplaced anterior pituitary gland along the roof of the oral cavity.
CONCLUSIONS
Our patient's phenotype was more severe than that reported in other patients. Although most of the previously reported patients with RAX mutations showed either a missense or some less severe mutation in at least one of their RAX alleles, our patient was homozygous for truncating mutations that would yield a severe, null protein phenotype. The severity of the genetic defect, the precise match between the knockout mouse and the patient's endocrine phenotypes, and the prominent roles of RAX in eye and pituitary development and diencephalic patterning suggest that the RAX null mutations could fully account for the observed phenotype.
Topics: Animals; Anophthalmos; Antidiuretic Agents; Cleft Lip; Cleft Palate; Deamino Arginine Vasopressin; Diabetes Insipidus; Eye Proteins; Frameshift Mutation; Homeodomain Proteins; Hormone Replacement Therapy; Human Growth Hormone; Humans; Hydrocortisone; Hypopituitarism; Infant, Newborn; Magnetic Resonance Imaging; Male; Melatonin; Mice, Knockout; Pituitary Gland; Thyroxine; Transcription Factors
PubMed: 30811539
DOI: 10.1210/jc.2018-02316