Case Studies1 September 1965Hereditary Idiopathic Diabetes InsipidusA Case Report with Autopsy FindingsLEWIS E. BRAVERMAN, M.D., JOSEPH P. MANCINI, M.D., DAVID M. MCGOLDRICK, M.D.LEWIS E. BRAVERMAN, M.D.Search for more papers by this author, JOSEPH P. MANCINI, M.D.Search for more papers by this author, DAVID M. MCGOLDRICK, M.D.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-63-3-503 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptIdiopathic or primary diabetes insipidus may be a familial disease, and many families with this disorder have been reported (1-12). The hereditary form has been described as being autosomal dominant (4-6, 8, 10, 12), autosomal dominant with incomplete female penetrance (7, 11), or sex-linked recessive (4, 9). However, postmortem studies have been reported only rarely. Blotner (13) described the autopsy findings of three cases, one of which was familial. In two of these cases there was a marked loss of nerve cells in the supra-optic nuclei of the hypothalamus. The paraventricular nuclei likewise showed some cell loss but to a...References1. WEIL A: Über die hereditäre form des diabetes insipidus. Deutsch. Arch. Klin. Med. 93: 180, 1908. Google Scholar2. CHASE LA: Hereditary diabetes insipidus. Canad. Med. Ass. J. 17: 212, 1927. MedlineGoogle Scholar3. BLOTNER H: The inheritance of diabetes insipidus. Amer. J. Med. Sci. 204: 261, 1942. CrossrefGoogle Scholar4. FORSSMAN H: On hereditary diabetes insipidus with special regard to a sex-linked form. Acta Med. Scand. (supplement) 159: 1, 1945. Google Scholar5. WELLERELLIOTTGUSMAN CGWAR: Hereditary diabetes insipidus: unusual urinary tract changes. J. Urol. 64: 716, 1950. CrossrefMedlineGoogle Scholar6. PENDERFRASER CBC: Dominant inheritance of diabetes insipidus: a family study. Pediatrics 11: 246, 1953. MedlineGoogle Scholar7. CANNON JF: Diabetes insipidus: clinical and experimental studies with consideration of genetic relationships. Arch. Intern. Med. 96: 215, 1955. CrossrefGoogle Scholar8. LEVINGERESCAMILLA ELRF: Hereditary diabetes insipidus: report of 20 cases in seven generations. J. Clin. Endocr. 15: 547, 1955. CrossrefGoogle Scholar9. FORSSMAN H: Two different mutations of the X-chromosome causing diabetes insipidus. Amer. J. Hum. Genet. 7: 21, 1955. MedlineGoogle Scholar10. MOEHLINGSCHULTZ RCRL: Familial diabetes insipidus. Report of one of fourteen cases in four generations. JAMA 158: 725, 1955. CrossrefMedlineGoogle Scholar11. MARTIN FJ: Familial diabetes insipidus. Quart. J. Med. 28: 573, 1959. MedlineGoogle Scholar12. ZEVTIGDJONOVICTRNINIC MZCB: Le diabète insipide héréditaire (observations de sept cas en trois générations). Rev. Med. Nancy 86: 1202, 1961. Google Scholar13. BLOTNER H: Primary or idiopathic diabetes insipidus: a system disease. Metabolism 7: 191, 1958. MedlineGoogle Scholar14. HANHART E: Die erbpathologie des diabetes insipidus, in Handbuch der Erbbiologie des Menschen, vol. 4, part II, Julius Springer, Berlin, 1940, p. 801. Google Scholar15. GAUPP R: Über den diabetes insipidus. Z. ges. Neurol. Psychiat. 171: 514, 1941. CrossrefGoogle Scholar16. LEVEQUESHARRER TFE: Pituicytes and the origin of the antidiuretic hormone. Endocrinology 52: 436, 1953. CrossrefMedlineGoogle Scholar17. DAUGHADAY WH: The neurohypophysis, in Textbook of Endocrinology, ed. by WILLIAMS, R. H., W. B. Saunders Co., Philadelphia, 1962, p. 86. Google Scholar18. BLOTNER H: Diabetes insipidus, in Oxford Medicine, ed. by CHRISTIAN, H. A. Oxford University Press Inc., New York, 1950, p. 179. Google Scholar This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAffiliations: Boston, MassachusettsFrom the Endocrine Division and Department of Pathology, St. Elizabeth's Hospital, Boston, Mass.This study was supported in part by grant AM-07917 from the National Institute of Arthritis and Metabolic Diseases, National Institutes of Health, Bethesda, Md.Requests for reprints should be addressed to Lewis E. Braverman, M.D., Division of Endocrinology, St. Elizabeth's Hospital, 736 Cambridge St., Boston, Mass. 02135. 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tissue sensitivity to vasopressin in hereditary hypothalamic diabetes insipidusVasopressin function in familial cranial diabetes insipidus.Diabetes insipidusThe Polyuric SyndromesDas hypothalamo-neurohypophysäre SystemFever of unknown origin in childrenClinical disorders of water metabolismPathophysiologic and pharmacologic alterations in the release and action of ADHPostpartum amenorrhea, diabetes insipidus and galactorrheaGenetic Models in Biomedical InvestigationANTIDIURETIC RESPONSES TO HYPERTONIC SALINE INFUSION, WATER DEPRIVATION, AND A SYNTHETIC ANALOGUE OF VASOPRESSIN IN PATIENTS WITH HEREDITARY, HYPOTHALAMIC DIABETES INSIPIDUSThe Hypothalamo-Neurohypophyseal SystemDisorders of Antidiuretic Hormone SecretionGrowth and Growth HormoneGenetic Aspects of Clinical EndocrinologyHereditary hypothalamic diabetes insipidus in rats (Brattleboro strain)Pathological Aspects of the Concept of Neurosecretion with Special Reference to the Pathogenesis of Diabetes Insipidus 1 September 1965Volume 63, Issue 3Page: 503-508KeywordsArthritisAutopsyHypothalamusMetabolic disordersNeuronsNeutrophils Issue Published: 1 September 1965 PDF DownloadLoading ...
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