History of NDI

1892 C.H. McIlraith's paper describing families who experienced conditions of excessive thirst and frequent urination was published. This was the first reference to appear of what was probably an inherited factor in the disorder.
Notes on Some Cases of Diabetes Insipidus with Marked Family and Hereditary Tendencies
McIlraith, Charles H.
The Lancet ii:767-768, 1892.
1945 Renal diabetes insipidus was independently recognized as a distinct condition by Forssmann in Sweden and Waring, et al., in the U.S.A.
On Hereditary Diabetes Insipidus With Special Regard to a Sex-Linked Form
Forssmann, H.
Acta Medica Scandinavica 159:3-196, 1945.
A Congenital Defect of Water Metabolism
Waring, Antonio J.; Kajdi, Laslo; Tappan, Vivian
American Medical Association
1947 The term Nephrogenic Diabetes Insipidus was first used by R. H. Williams and C. Henry who determined that the symptoms of some DI patients were not alleviated by the injection of antidiuretic hormone.
Nephrogenic Diabetes Insipidus: Transmitted by Females and Appearing During Infancy in Males
Williams, Robert H.; Henry, Cole
Annals of Internal Medicine 27:84-95, 1947.
1954 The presence of the biologically active antidiuretic hormone arginine vasopressin (AVP) was found in the urine of NDI patients.
A Congenital Renal Tubular Defect
Luder, J.; Burnett, Dorothy
Archives of Disease in Childhood 29:44-47, 1954.
1963 Active AVP was found in the blood of NDI patients.
Evidence that the Antidiuretic Substance in the Plasma of Children with Nephrogenic Diabetes Insipidus is Antidiuretic Hormone
Holliday, Malcolm A.; Burstin, Charles; Harrah, Jean
Pediatrics 32:384-388, 1963.
1969 Bode and Crawford proposed under the term "The Hopewell Hypothesis" that most cases in America could be traced to descendants of Ulster Scots who arrived in Novia Scotia in 1761 on the ship Hopewell.
Nephrogenic Diabetes Insipidus in North America. The Hopewell Hypothesis
Bode, Hans H.; Crawford, M.D., John D.
New England Journal of Medicine 280:750-754, 1969.
See also, X-Linked Nephrogenic Diabetes Insipidus Mutations in North America and the Hopewell Hypothesis
Bichet, Daniel G.; Arthus, Marie-Francoise; Lonergan, Michele; Hendy, PhD, Geoffrey N.; Paradis, Ann Josee; Fujiwara, T. Mary; Morgan, Kenneth; Gregory, Martin C.; Rosenthal, Walter; Didwania, Arati
Journal of Clinical Investigation 92: 1262-1268, 1993.
1981 G.L. Robertson and J.A. Scheidler provided evidence of a variant of familial NDI characterized by partial resistance to vasopressin.
A newly recognized variant of familial nephrogenic diabetes insipidus distinguished by partial resistance to vasopressin.
Gary Robertson and Scheidler, J.A.
Clinical Research 29: 555A, 1981.
1987 Nine Knoers localized the gene that, when mutated, caused the most common type of inherited NDI. This was the vasopressin-2 receptor (V2R) gene.
Nephrogenic Diabetes Insipidus: Close Linkage with Markers from the Distal Long Arm of the Human X Chromosome
van Oost, Bernard A.; Monnens, Leo A.H.; van der Heyden, H.; Ropers, Hilger H.; Knoers, Nine; Willems, J.
Human Genetics 80(1):31-8, 1988.
1987 Mariel Birnbaumer isolated the cell line expressing the V2 receptor.
Development and Characterization of a Mouse Cell Line Expressing the Human V2 Vasopressin Receptor Gene
Birnbaumer, Mariel; Hinrichs, Victoria; Themmen, Axel P.N.
Molecular Endocrinology 4(2):245-54, 2-1-90.
1989 Daniel Bichet determined that NDI patients were not responding to dDAVP, a synthetic analog of AVP.
Epinephrine and dDAVP Administration in Patients with Congenital Nephrogenic Diabetes Insipidus. Evidence for a pre-cyclic AMP V2 Receptor Defective Mechanism
Bichet, Daniel G.; Razi, Mohammad; Arthus, Marie-Francoise; Lonergan, Michele; Tittley, Pauline; Smiley, Robert K.; Rock, PhD, MD, FRCP, Gail; Hirsch, David J.
Kidney International 36(5):859-66, 1989.
1992 The gene and the cDNA for the V2 receptor were isolated by Mariel Birnbaumer.
Molecular Cloning of the Receptor for Human Antidiuretic Hormone
Birnbaumer, Mariel; Seibold, Anita; Gilbert, Stephanie; Ishido, Ph.D., Masami; Barberis, Claude; Antaramian, Anaid; Brabet, Philippe; Rosenthal, Walter
Nature 357(6376):333-5, 5-28-92.
1992 Lolait, et al., clone a vasopressin V2 receptor of a rat and suggest its connection to nephrogenic diabetes insipidus.
Cloning and Characterization of a Vasopressin V2 Receptor and Possible Link to Nephrogenic Diabetes Insipidus
Lolait, Stephen J.; O'Carroll, Anne-Marie; McBride, O. Wesley; Konig, Monica; Morel, Alain; Brownstein, Michael J.
Nature 357(6376):336-9, 5-28-92.
1992 Dr. Birnbaumer's laboratory provided biochemical proof that the mutated V2R receptor is the cause of X-linked NDI.
Molecular Identification of the Gene Responsible for Congenital Nephrogenic Diabetes Insipidus
Rosenthal, Walter; Seibold, Anita; Antaramian, Anaid; Lonergan, Michele; Arthus, Marie-Francoise; Hendy, PhD, Geoffrey N.; Birnbaumer, Mariel; Bichet, Daniel G.
Nature 359(6392):233-5, 9-17-92.
1992 Mariel Birnbaumer, et al., deduced the primary structure of the human V2R.
Structure and Chromosomal Localization of the Human Antidiuretic Hormone Receptor Gene
Seibold, Anita; Brabet, Philippe; Rosenthal, Walter; Birnbaumer, Mariel
American Journal of Human Genetics 51(5):1078-83, 11-1-92.
1993 Vasopressin-regulated water channel (AQP2) cDNA was isolated by Fushimi, K., et al., in the rat.
Cloning and Expression of Apical Membrane Water Channel of Rat Kidney Collecting Tubule
Fushimi, MD, Kiyohide; Uchida, Shinichi; Hara, Yukichi; Hirata, MD, Yukio; Marumo, MD, Fumiaki; Sasaki, Sei
Nature 361(6412):549-52, 2-11-93.
1993 After the isolation of the V2 receptor cDNA and gene, Dr. Birnbaumer's laboratory confirmed that the gene mapped to the same region of the X chromosome to which NDI had been previously mapped by genetic linkage analysis.
The Vasopressin Type 2 Receptor Gene. Chromosomal Localization and Its Role in Nephrogenic Diabetes Insipidus
Rosenthal, Walter; Birnbaumer, Mariel; Seibold, Anita; Bichet, Daniel G.
Regulatory Peptides 29;45(1-2):67-71, 4-1-93.
1994 Between 1992 and 1994, Dr. Birnbaumer's laboratory identified the first mutations in the V2 receptor gene in individuals affected with NDI that had been clinically characterized by Dr. Daniel Bichet, and confirmed biochemically that a receptor bearing those mutations did not function in vitro as the normal receptor does. This joint effort of medicine, molecular biology and biochemistry established the receptor mutations as the most common cause of NDI.
Nephrogenic Diabetes Insipidus. A V2 Vasopressin Receptor Unable to Stimulate Adenylyl Cyclase
Birnbaumer, Mariel; Rosenthal, Walter; Antaramian, Anaid; Gilbert, Stephanie
Journal of Biological Chemistry 268(18):13030-3, 6-25-93.
Mutations in the Vasopressin V2 Receptor Gene in Families with Nephrogenic Diabetes Insipidus and Functional Expression of the Q-2 Mutant
Rosenthal, Walter; Seibold, Anita; Antaramian, Anaid; Gilbert, Stephanie; Birnbaumer, Mariel; Bichet, Daniel G.; Arthus, Marie-Francoise; Lonergan, Michele
Cellular and Molecular Biology 40(3):429-36, 5-1-94.
1994 The human cDNA for AQP2 was isolated and its chromosomal localization was assigned to 12q13 by Sasaki, et al.
Cloning, Characterization, and Chromosomal Mapping of Human Aquaporin of Collecting Duct
Sasaki, Sei; Fushimi, MD, Kiyohide; Saito, Hidehiko; Saito, Fumiko; Uchida, Shinichi; Ishibashi, Kenichi; Kuwahara, Michio; Ikeuchi, Tatsuro; Inui, Ken-ichi; Nakajima, Kiichird; Watanabe, Tohru; Marumo, MD, Fumiaki
Journal of Clinical Investigation 93(3):1250-6, 3-1-94
Isolation of Human aquaporin-CD Gene
Uchida, Shinichi; Sasaki, Sei; Fushimi, MD, Kiyohide; Marumo, MD, Fumiaki
Journal of Biological Chemistry 269(38):23451-5, 9-23-94.
1994 The Nijmegan group of The Netherlands isolated the human cDNA for the AQP2 water channel gene and identified mutations of the AQP2 gene as a cause of the recessive form of NDI.
Patients with Autosomal Nephrogenic Diabetes Insipidus Homozygous for Mutations in the Aquaporin 2 Water-Channel Gene
van Lieburg, Angenita; Verdijk, Marian A.J.; Knoers, Nine; van Essen, A.J.; Proesmans, W.; Mallmann, Rudolf; Monnens, Leo A.H.; van Oost, Bernard A.; van Os, Carel; Deen, Peter M.T.
American Journal of Human Genetics 55(4):648-52, 10-1-94.
Requirement of Human Renal Water Channel Aquaporin-2 for Vasopressin-Dependent Concentration of Urine
Deen, Peter M.T.; Verdijk, Marian A.J.; Knoers, Nine; Wieringa, Be; Monnens, Leo A.H.; van Os, Carel; van Oost, Bernard A.
Science 264(5155):92-5, 4-94.
1994 The human AQP2 gene was mapped to the long arm of chromosome 12.
Assignment of the Human Gene for the Water Channel of Renal Collecting Duct Aquaporin 2 (AQP2) to Chromosome 12 Region q12-->q13
Deen, Peter M.T.; Weghuis, D.O.; Sinke, R.J.; Geurts van Kessel, A.; Wieringa, Be; van Os, Carel
Cytogenetics and Cell Genetics 66(4):260-2, 1994.
1995 The first demonstration of changes in AQP2 in association with NDI are documented by David Marples, et al.
Lithium-induced Down regulation of Aquaporin-2 Water Channel Expression in Rat Kidney Medulla
Marples, David; Christensen, Sten; Christensen, Erik Ilso; Ottosen, Peter D.; Nielsen, Soren
Journal of Clinical Investigation 95(4):1838-45, 4-1-95.
1995 Deen, et al., provided cell biological proof that mutant AQP2 proteins, coded for by patients with recessive NDI, are impaired in their transport to the plasma membrane (export from the endoplasmic reticulum).
Water Channels Encoded by Mutant Aquaporin-2 Genes in Nephrogenic Diabetes Insipidus are Impaired in Their Cellular Routing
Deen, Peter M.T.; Croes, Huib; van Aubel, Remon A.M.H.; Ginsel, Leo A.; van Os, Carel
Journal of Clinical Investigation 95(5):2291-6, 5-1-95.
1998 Mulders, et al., provided the first evidence that autosomal dominant NDI is also caused by a mutation in the AQP2 gene and that this form of NDI is also caused by an impaired transport of the mutant AQP2 protein to the plasma membrane (retained in the Golgi Complex).
An Aquaporin-2 Water Channel Mutant Which Causes Autosomal Dominant Nephrogenic Diabetes Insipidus is Retained in the Golgi Complex
Morgan, Kenneth; Deen, Peter M.T.; Kamsteeg, Erik-Jan; Lonergan, Michele; Leijendekker, Richtje; van der Sluijs, Peter; Bichet, Daniel G.; Mulders, Sabine M.; Fujiwara, T. Mary; Arthus, Marie-Francoise; van Os, Carel; Rijss, Johan P.L.
Journal of Clinical Investigation 102(1):57-66. 7-1-98.
1998 Two new mutations in the AQP2 gene causing NDI were identified by Goji, K., et al.
Novel Mutations in Aquaporin-2 Gene in Female Siblings with Nephrogenic Diabetes Insipidus: Evidence of Disrupted Water Channel Function
Goji, Katsumi; Kuwahara, Michio; Gu, Yong; Matsuo, Masafumi; Marumo, MD, Fumiaki; Sasaki, Sei