- Central Diabetes Insipidus
- Central Diabetes Insipidus - NORD (National Organization for Rare Disorders)
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In CDI, the body produces antibodies or lymphocytes that attack cells that secrete vasopressin. CDI may also occur as part of a larger syndrome or disorder including Wolfram syndrome or septo-optic dysplasia. For more information on these disorders, choose the specific disorder name as your search term in the Rare Disease Database. CDI affects males and females in equal numbers and can occur at any age. Onset is more common between the ages of 10 and 20 years. The inherited form of CDI is extremely rare with fewer than cases reported in the medical literature.
CDI is estimated to occur in 1 out of every 25, individuals. Symptoms of the following disorders can be similar to those of CDI. Comparisons may be useful for a differential diagnosis. Nephrogenic diabetes insipidus NDI is a rare kidney disorder that may be inherited or acquired. In this situation, the problem is not a defect in synthesis or secretion of vasopressin, but rather an inability of the kidney to respond to the vasopressin that is secreted. NDI causes chronic excessive thirst polydipsia , excessive urine production polyuria , and potentially dehydration.
Central Diabetes Insipidus
If left untreated, repeated episodes of severe dehydration may develop, eventually resulting in serious complications. Most cases of hereditary NDI are inherited as an X-linked recessive trait.
Rare cases are inherited as an autosomal recessive or dominant trait. Two different genes have been identified that cause hereditary NDI: AVPR2 which codes for the vasopressin receptor and AQP2 which codes for acquaporin that facilitates water transport and reabsorption in the kidney.
Central Diabetes Insipidus - NORD (National Organization for Rare Disorders)
NDI may also be acquired during life as a result of drug use e. Diabetes mellitus insulin dependent diabetes is a common disorder in which the body does not produce enough insulin or is unable to properly use available insulin. Therefore, the body is not able to properly transport glucose a form of suger into the cells of the body. The disorder has different etiologies: genetic and environmental.
Although the most obvious symptoms are usually excessive thirst and urination, diabetes mellitus is not related to diabetes insipidus and therefore the treatments are different. Primary psychogenic polydipsia is a rare disorder in which individuals drink excessive amounts of water in the absence of any normal stimulus for thirst. Affected individuals will produce excessive amounts of urine polyuria because they drink excessively, not because they are unable to concentrate the urine.
In response to the excessive intake of water, their pituitary secretes less vasopressin. Primary psychogenic polydipsia can potentially cause water intoxication — a condition that can cause serious complications. Some cases of primary psychogenic polydispsia occur as part of mental illness. In other cases, the cause is unknown. A diagnosis of CDI may be suspected based upon the identification of characteristic findings, specifically excessive thirst and excessive urination.
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A thorough clinical evaluation, a detailed patient history, and a variety of specialized tests may be used to confirm a diagnosis. Physicians may take blood and urine samples to determine the concentration of salts, and sugar within those samples. The ratio of these substances to water within the blood or urine is known as osmolality. Individuals with CDI have a high osmolality in their blood and a low osmolality in their urine. The urine osmolality may be estimated by the specific gravity, which is low in untreated diabetes insipidus.
Additional tests may be necessary to confirm a diagnosis or rule out other causes of diabetes insipidus. Assay of vasopressin in the circulation is problematic since it is unstable and has a short half-life. Copeptin is cosecreted with vasopressin and is more stable. Therefore, it provides a surrogate marker of vasopressin secretion. Individuals with a different form of diabetes insipidus i.
Conversely, individuals with CDI respond to supplemental vasopressin treatment. In some individuals an additional test, known as a water deprivation test, may be required to confirm a diagnosis. During this test, affected individuals cannot ingest any fluids and can only eat dry foods for a specific period of time. Blood and urine samples will be taken to measure serum sodium concentration or osmolality and urine output, osmolality or specific gravity.
This dehydration provides a stimulus for vasopressin secretion which can be estimated by measuring copeptin concentrations or by the concentration of the urine. Serum vasopressin levels may be measured as well if handled appropriately. Body weight and vital signs are monitored to prevent excessive dehydration. This test may be used to distinguish between the various causes of diabetes insipidus.
Some individuals will have x-ray scans including computed tomography CT scan or magnetic resonance imaging MRI to rule out brain tumors that can affect the pituitary gland, a potential cause of CDI. Ensuring proper fluid intake and reducing urine output are essential. Specific treatments include the administration of certain drugs.
Specific therapy varies depending upon the severity of vasopressin deficiency. Individuals with the severe form of the disorder may receive replacement therapy with a synthetic form of vasopressin known as desmopressin DDAVP, 1-desaminoD-arginine vasopressin. Desmopressin may be taken orally, injected, or used as a nasal spray. Individuals with partial CDI and residual vasopressin activity may be treated with other drugs such as hydrochlorothiazide.
Infants with diabetes insipidus are particularly problematic and may be treated by diluting the formula with water and with hydrochlorothiazide. DDAVP must be used with caution in this age group since infants have an obligate liquid intake to provide adequate calories for growth. In cases of hereditary CDI, genetic counseling may be of benefit for affected individuals and their families. Other treatment is symptomatic and supportive. Information on current clinical trials is posted on the Internet at www.
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For information about clinical trials sponsored by private sources, contact: www. Thomas A. Wilson stonybrookmedicine. Diabetes Insipidus. Pathophysiology, diagnosis and management of nephrogenic diabetes insipidus. Nat Rev Nephrol.
Diagnostic accuracy of copeptin in the differential diagnosis of the polyuria-polydipsia syndrome: a prospective multicenter study. J Clin Endocrinol Metab. Epub Mar Diabetes insipidus: diagnosis and treatment of a complex disease. Cleve Clin J Med. Idiopathic central diabetes insipidus is associated with abnormal blood supply to the posterior pituitary gland caused by vascular impairment of the inferior hypophyseal artery system. Six novel mutations in the arginine vasopressin gene in 15 kindreds with autosomal dominant familial neurohypophyseal diabetes insipidus give further insight into the pathogenesis.
Europ J Hum Genet.
Central diabetes insipidus and autoimmunity: relationship between the occurrence of antibodies to arginine vasopressin-secreting cells and clinical, immunological, and radiological features in a large cohort of patients with central diabetes insipidus of known and unknown etiology. There is one case reported in adult literature, where a pituitary apoplexy precipitated diabetes insipidus, patient subsequently underwent trans sphenoidal pituitary surgery with subtotal resection of this mass. Microscopic evaluation of tumor tissue revealed a pituitary adenoma with evidence of recent infarct and hemorrhage [ 8 ] but no such cases were reported in paediatric population.
There was a physiological model which provides a plausible mechanistic explanation for some varieties of postsurgical water and electrolyte disturbances, in which increasing damage to the pituitary potentiates the likelihood of a full triphasic response. However, there was also evidence which show that merely modifying the level of damage does not produce every presentation of water and electrolyte imbalance [ 10 ].
No such case is reported in literature so far. He presented to local hospital with altered sensorium. He was then transferred to our tertiary centre. DDAVP stopped and he is advised to drink fluids at his choice, but did not drink because of hypodipsia. MRI of Brain done subsequently, showed an increase in the size of tumour mass, likely haemorrhage within the optic pathway glioma, which had contributed to this triphasic response. Progression of the patient is shown in Table 1. Although SIADH is likely in this case, there is also this possibility that this could be a DDAVP toxicity as there are also evidence that prolonged desmopressin bioactivity may increase the risk of water intoxication [ 11 ].
Mechanisms that underlie the pathophysiology of the triphasic pattern of post-operative diabetes insipidus could be applicable in this case as well. That is, the first phase of diabetes insipidus is initiated by a partial or complete pituitary stalk section, which severs the connections between the cell bodies of AVP secreting neurons in the hypothalamus and their nerve terminals in posterior pituitary gland, which prevents AVP secretion. The second phase of antidiuresis is caused by uncontrolled release of AVP into the blood stream from the degenerating nerve terminals in posterior pituitary.
The third phase of Diabetes insipidus develops, when the AVP secreting neuronal cell bodies in hypothalamus have degenerated. But research needed to confirm the same. Med Rep Case Stud 3: DOI: This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Select your language of interest to view the total content in your interested language.
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