The objective of this study is to obtain additional clinical and molecular genetic data to test the hypothesis that familial neurohypophyseal diabetes insipidus (FNDI) is due to mutations in the coding region of the vasopressin-neurophysin II gene that directs the production of a mutant preprohormone that accumulates in and destroys magnocellular neurons because it can not be folded and processed efficiently. The studies will be performed in all consenting affected and unaffected members of at least 14 American kindreds in which FNDI is known or presumed to be segregating. The subjects will be admitted to the Clinical Research Center at 1 to 5 year intervals for measurements of fluid intake and urine output, plasma electrolytes, plasma and urinary vasopressin, urine aquaporin II and abnormal forms of """"""""big vasopressin"""""""" under basal conditions and during a fluid deprivation/hypertonic saline infusion or water load/hypertonic saline infusion test. Subjects will also undergo MRI of the pituitary-hypothalamic area and have blood collected for sequencing of the vasopressin-neurophysin gene. Affected subjects will undergo a therapeutic trial of desmopressin (DDAVP). A few subjects who undergo spontaneous remissions of their diabetes insipidus may also receive short infusions of oxytocin or vasopressin antagonists to determine if urinary dilution occurs.
| Sherenian, Michael G; Singh, Anne M; Arguelles, Lester et al. (2018) Association of food allergy and decreased lung function in children and young adults with asthma. Ann Allergy Asthma Immunol 121:588-593.e1 |
| Baron, Kelly Glazer; Reid, Kathryn J; Malkani, Roneil G et al. (2017) Sleep Variability Among Older Adults With Insomnia: Associations With Sleep Quality and Cardiometabolic Disease Risk. Behav Sleep Med 15:144-157 |
| Makhija, Melanie M; Robison, Rachel G; Caruso, Deanna et al. (2016) Patterns of allergen sensitization and self-reported allergic disease in parents of food allergic children. Ann Allergy Asthma Immunol 117:382-386.e1 |
| Gupta, Ruchi S; Walkner, Madeline M; Greenhawt, Matthew et al. (2016) Food Allergy Sensitization and Presentation in Siblings of Food Allergic Children. J Allergy Clin Immunol Pract 4:956-62 |
| Raghanti, Mary Ann; Edler, Melissa K; Stephenson, Alexa R et al. (2016) Human-specific increase of dopaminergic innervation in a striatal region associated with speech and language: A comparative analysis of the primate basal ganglia. J Comp Neurol 524:2117-29 |
| Slama, Laurence; Jacobson, Lisa P; Li, Xiuhong et al. (2016) Longitudinal Changes Over 10 Years in Free Testosterone Among HIV-Infected and HIV-Uninfected Men. J Acquir Immune Defic Syndr 71:57-64 |
| Ye, Wen; Rosenthal, Philip; Magee, John C et al. (2015) Factors Determining ?-Bilirubin Levels in Infants With Biliary Atresia. J Pediatr Gastroenterol Nutr 60:659-63 |
| Arroyo-Ávila, Mariangelí; Santiago-Casas, Yesenia; McGwin Jr, Gerald et al. (2015) Clinical associations of anti-Smith antibodies in PROFILE: a multi-ethnic lupus cohort. Clin Rheumatol 34:1217-23 |
| Lertratanakul, Apinya; Wu, Peggy; Dyer, Alan R et al. (2014) Risk factors in the progression of subclinical atherosclerosis in women with systemic lupus erythematosus. Arthritis Care Res (Hoboken) 66:1177-85 |
| Nodzenski, Michael; Muehlbauer, Michael J; Bain, James R et al. (2014) Metabomxtr: an R package for mixture-model analysis of non-targeted metabolomics data. Bioinformatics 30:3287-8 |
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