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Hereditary Nephrogenic Diabetes Insipidus: Pathophysiology and Possible Treatment. An Update

A real cure for nephrogenic diabetes insipidus (NDI) is still missing, and the main symptoms of the disease are handled with s continuous supply of water, a restrictive diet, and nonspecific drugs. Unfortunately, the current therapeutic options are limited and only partially beneficial. Further investigation in vitro or using the available animal models of the disease, combined with clinical trials, will eventually lead to the identification of one or more targeted strategies that will improve or replace the current conventional therapy and grant NDI patients a better quality of life.

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Articles of Interest

A mini-review of pharmacological strategies used to ameliorate polyuria associated with X-linked nephrogenic diabetes insipidus

Nephrogenic diabetes insipidus (NDI) is characterized by renal resistance to the antidiuretic hormone arginine vasopressin (AVP), which leads to polyuria, plasma hyperosmolarity, polydipsia, and impaired quality of living. Inherited forms are caused by X-linked loss-of-function mutations in the gene encoding the vasopressin 2 receptor (V2R) or autosomal recessive/dominant mutations in the gene encoding aquaporin 2 (AQP2).

Causes of reversible nephrogenic diabetes insipidus: A systematic review

In nephrogenic diabetes insipidus (NDI), the kidney is unable to produce concentrated urine because of the insensitivity of the distal nephron to antidiuretic hormone (arginine vasopressin). In settings in which fluid intake cannot be maintained, this may result in severe dehydration and electrolyte imbalances. The risk for conversion of reversible to irreversible NDI seems to be a potential complication.

Hereditary nephrogenic diabetes insipidus (NDI)

Affected untreated infants usually have poor feeding and failure to thrive, and rapid onset of severe dehydration with illness, hot environment, or the withholding of water. Short stature and secondary dilatation of the ureters and bladder from the high urine volume is common in untreated individuals. Lack of early signs or symptoms does not exclude the diagnosis.

International expert consensus statement on the diagnosis and management of congenital nephrogenic diabetes insipidus (arginine vasopressin resistance)

Congenital nephrogenic diabetes insipidus (NDI; also known as arginine vasopressin resistance) is a rare inherited disorder of water homeostasis, caused by insensitivity of the distal nephron to arginine vasopressin. Consequently, the kidney loses its ability to concentrate urine, which leads to polyuria, polydipsia and the risk of hypertonic dehydration. The diagnosis and management of NDI are very challenging and require an integrated, multidisciplinary approach.

Managing Nephrogenic Diabetes Insipidus: Treatment Approaches

Nephrogenic diabetes insipidus is a challenging condition to manage, but with appropriate treatment and lifestyle modifications, individuals with NDI can lead fulfilling lives. Treatment approaches focus on maintaining hydration, reducing urine output, and preventing complications associated with excessive urination and dehydration.

Nephrogenic Diabetes Insipidus Characteristics and Presentation

Nephrogenic diabetes insipidus occurs due to a defect in the ADH receptor and is characterized by normal or increased ADH levels and decreased urine osmolality. Causes may include kidney disease, drugs such as lithium, and electrolyte disturbances. Patients may experience polyuria, polydipsia, nocturia, and hypovolemia.

Pathophysiology, diagnosis and management of nephrogenic diabetes insipidus

NDI can be inherited (X-linked or autosomal) or acquired, most commonly as a result of lithium treatment Management of primary forms of NDI focuses on dietary modification to reduce osmotic load and pharmacological treatment with inhibitors of prostaglandin synthesis and thiazide diuretics

Physiological insights into novel therapies for nephrogenic diabetes insipidus

Over the past decade, studies elucidating the molecular physiology and signaling pathways regulating water transport have suggested novel therapeutic possibilities. In patients with congenital NDI due to mutations in the type 2 vasopressin receptor (V2R) or acquired NDI due to lithium (or other medications), there are no functional abnormalities in the aquaporin-2 (AQP2) water channel, or in another key inner medullary transport protein, the UT-A1 urea transporter.

Understanding nephrogenic diabetes insipidus: Causes, symptoms, and management

Nephrogenic diabetes insipidus is a rare disorder characterized by the kidney’s inability to concentrate urine properly. Unlike diabetes mellitus, which involves problems with insulin, NDI specifically affects the kidneys’ response to a hormone called vasopressin. This condition can lead to excessive thirst and urination, causing significant disruptions in daily life.

Resources

NDI Foundation

The NDI Foundation was formed to support education, research, treatment and cure for Nephrogenic Diabetes Insipidus. Our goal is to create a communication channel to serve the entire NDI community: patients and their families, researchers, physicians and other health care providers.

Annual Reviews

Nephrogenic diabetes insipidus, which can be inherited or acquired, is characterized by an inability to concentrate urine despite normal or elevated plasma concentrations of the antidiuretic hormone arginine vasopressin. Polyuria, with hyposthenuria, and polydipsia are the cardinal clinical manifestations of the disease. About 90% of patients with congenital nephrogenic diabetes insipidus are males with the X-linked recessive form of the disease (OMIM 304800) who have mutations in the arginine vasopressin receptor 2 gene (AVPR2), which codes for the vasopressin V2 receptor.

NORD

Most cases of hereditary NDI are due to changes (mutations or variants) in the AVPR2 gene and are inherited in an X-linked pattern. Rare cases are due to variants in the AQP2 gene and are inherited in an autosomal recessive or dominant pattern. NDI may also be acquired during life due to drugs (e.g., lithium therapy), kidney disease, obstruction of the tubes that carry urine from the kidneys to the bladder (ureters) and prolonged metabolic imbalances such as low levels of potassium in the blood (hypokalemia) or high levels of calcium in the blood (hypercalcemia).