Nephrogenic diabetes insipidus is caused by the inability of the renal collecting ducts to absorb water in response to antidiuretic hormone (ADH), also known as arginine vasopressin (AVP; 192340). Approximately 90% of patients are males with the X-linked ... Nephrogenic diabetes insipidus is caused by the inability of the renal collecting ducts to absorb water in response to antidiuretic hormone (ADH), also known as arginine vasopressin (AVP; 192340). Approximately 90% of patients are males with the X-linked recessive form, type I (304800), which is caused by mutation in the gene encoding the vasopressin V2 receptor (AVPR2; 300538). The remaining 10% of patients have the autosomal form, type II, caused by mutation in the AQP2 gene (Morello and Bichet, 2001). Neurogenic, or central, diabetes insipidus (CDI; 125700) is caused by mutation in the gene encoding arginine vasopressin, located on 20p13.
Van Lieburg et al. (1994) reported 3 unrelated patients with NDI. All were born of consanguineous parents, indicating autosomal recessive inheritance. Onset in all patients was within the first weeks of life, with hypernatremia and severe dehydration. Urine ... Van Lieburg et al. (1994) reported 3 unrelated patients with NDI. All were born of consanguineous parents, indicating autosomal recessive inheritance. Onset in all patients was within the first weeks of life, with hypernatremia and severe dehydration. Urine osmolality was inappropriately low and did not increase in response to AVP. Other features included failure to thrive, feeding difficulties, and unexplained fever.
In a male patient with nephrogenic diabetes insipidus originally reported by Knoers and Monnens (1991), Deen et al. (1994) identified compound heterozygosity for 2 mutations in the AQP2 gene (107777.0001; 107777.0002). Missense mutations and a single-nucleotide deletion in ... In a male patient with nephrogenic diabetes insipidus originally reported by Knoers and Monnens (1991), Deen et al. (1994) identified compound heterozygosity for 2 mutations in the AQP2 gene (107777.0001; 107777.0002). Missense mutations and a single-nucleotide deletion in the AQP2 gene were found by van Lieburg et al. (1994) in 3 NDI patients from consanguineous families (107777.0003-107777.0005). In a mother and daughter with autosomal dominant NDI, Mulders et al. (1998) identified a heterozygous mutation in the AQP2 gene (107777.0009), which had a dominant-negative effect when expressed in Xenopus oocytes. Carroll et al. (2006) identified the molecular basis of NDI in Arab families. The authors identified 2 novel missense mutations in AQP2.