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Nephrogenic Diabetes Insipidus, Type I

Known as: Diabetes Insipidus, Nephrogenic, Type I, Diabetes Insipidus, Nephrogenic, X-Linked, NDI 
X-linked congenital nephrogenic diabetes insipidus disorders occurring mostly in males and associated with V2 RECEPTOR mutations.
National Institutes of Health

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AVPR2 wt AlleleAVPR2, 1-BP INSAVPR2, PHE105VALConstipation

Broader (1)

Nephrogenic Diabetes Insipidus

Papers overview

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Review
2015
Review
2015
[Wolfram syndrome: clinical features, molecular genetics of WFS1 gene].
Wolfram syndrome(WFS: OMIM 222300) is a rare recessive neuro-endocrine degenerative disorder, known as DIDMOAD(Diabetes Insipidus… 
2013
2013
Characterization of AQP‐2 gene mutation (R254Q) in a family with dominant nephrogenic DI
We identified the AQP‐2 gene mutation (R254Q) in a family with dominant NDI. The patient studied here has NDI with partial… 
2006
2006
Enamel-renal syndrome associated with hypokalaemic metabolic alkalosis and impaired renal concentration: a novel syndrome?
Enamel-renal syndrome (ERS, OMIM204690) is char-acterized by amelogenesis imperfecta (AI) and nephro-calcinosis and has been… 
2006
2006
Lithium-induced NDI in rats is associated with loss of alpha-ENaC regulation by aldosterone in CCD.
Lithium-induced nephrogenic diabetes insipidus (Li-NDI) is associated with increased urinary sodium excretion and decreased… 
2004
2004
Changes of Rat Kidney AQP2 and Na,K-ATPase mRNA Expression in Lithium-Induced Nephrogenic Diabetes insipidus
Background/Aim: In a rat model, lithium treatment is associated with polyuria and severe downregulation of aquaporin-2 (AQP2… 
2000
2000
Juxtaposed Cystic Nephroma and Wilms' Tumor
ABSTRACT We report a case of juxtaposed Wilms' tumor (WT) and cystic nephroma (CN) in a 21-month-old girl which gave rise to… 
Review
1993
Review
1993
Hereditary Vasopressin Resistance in Man and Mouse
The DI +/+ Severe hereditary nephrogenic diabetes insipidus mouse is resistant to the antidiuretic action of vasopressin (VP… 
1989
1989
Embryonic neurons as in vitro inducers of differentiation of nephrogenic mesenchyme.
1988
1988
Sweat Tests in Patients with Diabetes Insipidus
Increased sweat chloride concentrations have been reported in patients with nephrogenic (NDI) but not central diabetes insipidus… 
1980
1980
Cellular action of vasopressin in medullary tubules of mice with hereditary nephrogenic diabetes insipidus.
Our previous studies (1974. J. Clin. Invest.54: 753-762.) suggested that impaired metabolism of cyclic AMP (cAMP) may be involved… 
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