X-linked Nephrogenic Diabetes Insipidus

X-linked nephrogenic diabetes insipidus Vasopressin V2 receptor (V2R) SR121463, SR49059... 

X-linked nephrogenic diabetes insipidus (NDI) is caused by mutations in the gene for the vasopressin V2 receptor leading to an insensitivity of the kidney for the antidiuretic hormone arginine vasopressin (AVP). The main symptom of the disease is diuresis, i.e., the production of a large amount of diluted urine. Due to the massive loss of water, the patients suffer from thirst and are in danger of dehydration. The disease usually becomes evident shortly after birth. 

X-linked Nephrogenic Diabetes Insipidus X-ray Contrast Agents... 

Los EL, Deen PM, Robben JH (2010) Potential of nonpeptide (ant)agonists to rescue vasopressin V2 receptor mutants for the treatment of X-linked nephrogenic diabetes insipidus. J Neuroendocrinol 22 393-399... 

Arthus M-F, Lonergan M, Crumley MJ et al (2000) Report of 33 novel AVPR2 mutations and analysis of 117 families with X-linked nephrogenic diabetes insipidus. J Am Soc Nephrol 11 1044-1054... 

Bichet DG, Arthus M-F, Lonergan M et al (1993) X-linked nephrogenic diabetes insipidus mutations in North America and the Hopewell hypothesis. J Clin Invest 92 1262-1268... 

In nephrogenic diabetes insipidus the kidney s ability to respond to AVP is impaired by different causes, such as drugs (e.g. lithium), chronic disorders (e.g. sickle cell disease, kidney failure) or inherited genetic disorders (X-linked or autosomal NDI). This type of diabetes insipidus can not be treated by exogenous administration of AVP or AVP analogues. Instead, diuretics (hydrochlorothiazide combined or not with amiloride) and NSAI (indomethacin) are administrated to ameliorate polyuria. 

Nephrogenic diabetes insipidus (NDI) is characterized by renal tubular resistance to the antidiuretic effect of arginine vasopressin (AVP). NDI may be inherited as an autosomal dominant or X-linked recessive disorder. The autosomal dominant form of NDI results from mutations of the aquaporin 2 gene (AQP2). AQP2 encodes a water channel of the renal collecting duct. Its disruption causes autosomal dominant NDI (113,114) and occasionally recessive forms of the disease. 

Nephrogenic Diabetes Insipidus. Failure of the kidney to respond to normal or increased concentrations of AVP can cause NDI. In the majority of these patients, AVP is mcapable of stimulating cychc adenosine monophosphate (cAMP) formation. Two causes have been described for this disorder (1) mutation in the vasopressin receptor and (2) mutations in the aquaporin-2 water channels. Hie vasopressin receptor mutation form of NDI is an X-chromosome-linked disorder that mostly affects males. Females are more likely to have the aquaporin-2 water channel gene defect on chromosome 12,ql2-13, which produces an autosomal recessive disease. Acquired forms of NDI may be caused by metabolic disorders (hypokalemia, hypercalcemia, and amyloidosis), drugs (hthium, demeclocycline, and barbiturates), and renal diseases (polycystic disease and chronic renal failure). NDI may also be seen in the absence of these factors (idiopathic). 

Emery-Dreifuss muscular dystrophy Diabetes insipidus, nephrogenic, X-linked Myotubular myopathy, X-linked Otopalatodigital syndrome, type I... 

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