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Diabetes insipidus, neurohypophyseal, autosomal recessive

MedGen UID:
864867
Concept ID:
C4016430
Finding
Synonym: DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, AUTOSOMAL RECESSIVE
 
OMIM®: 192340

Professional guidelines

PubMed

Di Iorgi N, Napoli F, Allegri AE, Olivieri I, Bertelli E, Gallizia A, Rossi A, Maghnie M
Horm Res Paediatr 2012;77(2):69-84. Epub 2012 Mar 16 doi: 10.1159/000336333. PMID: 22433947

Recent clinical studies

Etiology

Shalev H, Romanovsky I, Knoers NV, Lupa S, Landau D
Nephrol Dial Transplant 2004 Mar;19(3):608-13. doi: 10.1093/ndt/gfg574. PMID: 14767016
Swift RG, Sadler DB, Swift M
Lancet 1990 Sep 15;336(8716):667-9. doi: 10.1016/0140-6736(90)92157-d. PMID: 1975860

Diagnosis

Spiess M, Beuret N, Rutishauser J
Best Pract Res Clin Endocrinol Metab 2020 Sep;34(5):101432. Epub 2020 Jun 19 doi: 10.1016/j.beem.2020.101432. PMID: 32712149
Bichet DG
Ann Endocrinol (Paris) 2012 Apr;73(2):117-27. Epub 2012 Apr 19 doi: 10.1016/j.ando.2012.03.030. PMID: 22520736
Di Iorgi N, Napoli F, Allegri AE, Olivieri I, Bertelli E, Gallizia A, Rossi A, Maghnie M
Horm Res Paediatr 2012;77(2):69-84. Epub 2012 Mar 16 doi: 10.1159/000336333. PMID: 22433947
Bichet DG
Prog Mol Biol Transl Sci 2009;89:15-29. Epub 2009 Oct 7 doi: 10.1016/S1877-1173(09)89002-9. PMID: 20374732
Ghirardello S, Garrè ML, Rossi A, Maghnie M
J Pediatr Endocrinol Metab 2007 Mar;20(3):359-75. doi: 10.1515/jpem.2007.20.3.359. PMID: 17451074

Therapy

Di Iorgi N, Napoli F, Allegri AE, Olivieri I, Bertelli E, Gallizia A, Rossi A, Maghnie M
Horm Res Paediatr 2012;77(2):69-84. Epub 2012 Mar 16 doi: 10.1159/000336333. PMID: 22433947

Prognosis

Christensen JH, Kvistgaard H, Knudsen J, Shaikh G, Tolmie J, Cooke S, Pedersen S, Corydon TJ, Gregersen N, Rittig S
Clin Genet 2013 Jan;83(1):44-52. Epub 2012 Jan 17 doi: 10.1111/j.1399-0004.2011.01833.x. PMID: 22168581
Christensen JH, Siggaard C, Corydon TJ, Robertson GL, Gregersen N, Bolund L, Rittig S
J Clin Endocrinol Metab 2004 Sep;89(9):4521-31. doi: 10.1210/jc.2003-031813. PMID: 15356057

Clinical prediction guides

Rutishauser J, Beuret N, Prescianotto-Baschong C, Spiess M
Exp Suppl 2019;111:299-315. doi: 10.1007/978-3-030-25905-1_14. PMID: 31588537
Christensen JH, Kvistgaard H, Knudsen J, Shaikh G, Tolmie J, Cooke S, Pedersen S, Corydon TJ, Gregersen N, Rittig S
Clin Genet 2013 Jan;83(1):44-52. Epub 2012 Jan 17 doi: 10.1111/j.1399-0004.2011.01833.x. PMID: 22168581
Di Iorgi N, Napoli F, Allegri AE, Olivieri I, Bertelli E, Gallizia A, Rossi A, Maghnie M
Horm Res Paediatr 2012;77(2):69-84. Epub 2012 Mar 16 doi: 10.1159/000336333. PMID: 22433947
Ghirardello S, Garrè ML, Rossi A, Maghnie M
J Pediatr Endocrinol Metab 2007 Mar;20(3):359-75. doi: 10.1515/jpem.2007.20.3.359. PMID: 17451074
Christensen JH, Siggaard C, Corydon TJ, Robertson GL, Gregersen N, Bolund L, Rittig S
J Clin Endocrinol Metab 2004 Sep;89(9):4521-31. doi: 10.1210/jc.2003-031813. PMID: 15356057

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
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    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources