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Nephrogenic diabetes insipidus

MedGen UID:
57876
Concept ID:
C0162283
Disease or Syndrome
Synonyms: ADH resistant diabetes insipidus; Diabetes insipidus nephrogenic type 1; Diabetes insipidus nephrogenic X-linked; Vasopressin-resistant diabetes insipidus
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
X-linked recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Nephrogenic diabetes insipidus (111395007); NDI - Nephrogenic diabetes insipidus (111395007)
 
Related genes: AVPR2, AQP2
HPO: HP:0009806
Orphanet: ORPHA223

Disease characteristics

Excerpted from the GeneReview: Nephrogenic Diabetes Insipidus
Nephrogenic diabetes insipidus (NDI) is characterized by inability to concentrate the urine, which results in polyuria (excessive urine production) and polydipsia (excessive thirst). Affected untreated infants usually have poor feeding and failure to thrive, and rapid onset of severe dehydration with illness, hot environment, or the withholding of water. Short stature and secondary dilatation of the ureters and bladder from the high urine volume is common in untreated individuals. [from GeneReviews]
Authors:
Nine Knoers   view full author information

Additional description

From GHR
Nephrogenic diabetes insipidus is a disorder of water balance. The body normally balances fluid intake with the excretion of fluid in urine. However, people with nephrogenic diabetes insipidus produce too much urine (polyuria), which causes them to be excessively thirsty (polydipsia). Affected individuals can quickly become dehydrated if they do not drink enough water, especially in hot weather or when they are sick.Nephrogenic diabetes insipidus can be either acquired or hereditary. The acquired form is brought on by certain drugs and chronic diseases and can occur at any time during life. The hereditary form is caused by genetic mutations, and its signs and symptoms usually become apparent within the first few months of life.Infants with hereditary nephrogenic diabetes insipidus may eat poorly and fail to gain weight and grow at the expected rate (failure to thrive). They may also be irritable and experience fevers, diarrhea, and vomiting. Recurrent episodes of dehydration can lead to slow growth and delayed development. If the condition is not well-managed, over time it can damage the bladder and kidneys leading to pain, infections, and kidney failure. With appropriate treatment, affected individuals usually have few complications and a normal lifespan.Nephrogenic diabetes insipidus should not be confused with diabetes mellitus, which is much more common. Diabetes mellitus is characterized by high blood sugar levels resulting from a shortage of the hormone insulin or an insensitivity to this hormone. Although nephrogenic diabetes insipidus and diabetes mellitus have some features in common, they are separate disorders with different causes.  https://ghr.nlm.nih.gov/condition/nephrogenic-diabetes-insipidus

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Nephrogenic diabetes insipidus in Orphanet.

Conditions with this feature

Bardet-Biedl syndrome
MedGen UID:
156019
Concept ID:
C0752166
Disease or Syndrome
Bardet-Biedl syndrome (BBS) is characterized by rod-cone dystrophy, truncal obesity, postaxial polydactyly, cognitive impairment, male hypogonadotropic hypogonadism, complex female genitourinary malformations, and renal abnormalities. The visual prognosis for children with BBS is poor. Night blindness is usually evident by age seven to eight years; the mean age of legal blindness is 15.5 years. Birth weight is usually normal, but significant weight gain begins within the first year and becomes a lifelong issue for most individuals. A majority of individuals have significant learning difficulties; a minority have severe impairment on IQ testing. Renal disease is a major cause of morbidity and mortality.
Nephrogenic diabetes insipidus, autosomal
MedGen UID:
289643
Concept ID:
C1563706
Disease or Syndrome
Nephrogenic diabetes insipidus (NDI) is characterized by inability to concentrate the urine, which results in polyuria (excessive urine production) and polydipsia (excessive thirst). Affected untreated infants usually have poor feeding and failure to thrive, and rapid onset of severe dehydration with illness, hot environment, or the withholding of water. Short stature and secondary dilatation of the ureters and bladder from the high urine volume is common in untreated individuals.
Diabetes insipidus, nephrogenic, with mental retardation and intracerebral calcification
MedGen UID:
387791
Concept ID:
C1857297
Disease or Syndrome

Recent clinical studies

Etiology

Bockenhauer D, Bichet DG
Curr Opin Pediatr 2017 Apr;29(2):199-205. doi: 10.1097/MOP.0000000000000473. PMID: 28134709
Guo WH, Li Q, Wei HY, Lu HY, Qu HQ, Zhu M
J Int Med Res 2016 Oct;44(5):1131-1137. Epub 2016 Sep 27 doi: 10.1177/0300060516655642. PMID: 27565746Free PMC Article
García Castaño A, Pérez de Nanclares G, Madariaga L, Aguirre M, Chocron S, Madrid A, Lafita Tejedor FJ, Gil Campos M, Sánchez Del Pozo J, Ruiz Cano R, Espino M, Gomez Vida JM, Santos F, García Nieto VM, Loza R, Rodríguez LM, Hidalgo Barquero E, Printza N, Camacho JA, Castaño L, Ariceta G; RenalTube Group.
Eur J Pediatr 2015 Oct;174(10):1373-85. Epub 2015 Apr 23 doi: 10.1007/s00431-015-2534-4. PMID: 25902753
Akar M, Kasapkara ÇS, Özbek MN, Tüzün H, Aldudak B, Kanar B
Ren Fail 2014 Jul;36(6):951-2. Epub 2014 Mar 27 doi: 10.3109/0886022X.2014.900403. PMID: 24673433
Caletti MG, Balestracci A, Di Pinto D
Pediatr Nephrol 2014 Mar;29(3):487-90. Epub 2013 Dec 14 doi: 10.1007/s00467-013-2689-z. PMID: 24337364

Diagnosis

Bichet DG, Bockenhauer D
Best Pract Res Clin Endocrinol Metab 2016 Mar;30(2):263-76. Epub 2016 Mar 2 doi: 10.1016/j.beem.2016.02.010. PMID: 27156763
Schernthaner-Reiter MH, Adams D, Trivellin G, Ramnitz MS, Raygada M, Golas G, Faucz FR, Nilsson O, Nella AA, Dileepan K, Lodish M, Lee P, Tifft C, Markello T, Gahl W, Stratakis CA
Eur J Pediatr 2016 May;175(5):727-33. Epub 2016 Jan 21 doi: 10.1007/s00431-015-2684-4. PMID: 26795631
Kim HJ, Shin YS, Choi H, Kim MK, Jeong YB, Park JK
J R Army Med Corps 2016 Oct;162(5):391-392. Epub 2015 Jul 22 doi: 10.1136/jramc-2015-000471. PMID: 26201512
Bockenhauer D, Bichet DG
Nat Rev Nephrol 2015 Oct;11(10):576-88. Epub 2015 Jun 16 doi: 10.1038/nrneph.2015.89. PMID: 26077742
García Castaño A, Pérez de Nanclares G, Madariaga L, Aguirre M, Chocron S, Madrid A, Lafita Tejedor FJ, Gil Campos M, Sánchez Del Pozo J, Ruiz Cano R, Espino M, Gomez Vida JM, Santos F, García Nieto VM, Loza R, Rodríguez LM, Hidalgo Barquero E, Printza N, Camacho JA, Castaño L, Ariceta G; RenalTube Group.
Eur J Pediatr 2015 Oct;174(10):1373-85. Epub 2015 Apr 23 doi: 10.1007/s00431-015-2534-4. PMID: 25902753

Therapy

Uwumugambi NA, Sanchorawala V, Shelton AC, Stern L, Gordon CE
Am J Kidney Dis 2017 Feb;69(2):317-319. Epub 2016 Oct 22 doi: 10.1053/j.ajkd.2016.07.037. PMID: 27780577
Sands JM, Klein JD
Am J Physiol Renal Physiol 2016 Dec 1;311(6):F1149-F1152. Epub 2016 Aug 17 doi: 10.1152/ajprenal.00418.2016. PMID: 27534996Free PMC Article
Fung E, Anand S, Bhalla V
Am J Kidney Dis 2016 Oct;68(4):628-632. Epub 2016 May 28 doi: 10.1053/j.ajkd.2016.04.016. PMID: 27241854Free PMC Article
Dayal D, Verma Attri S, Kumar Bhalla A, Kumar R
Pediatr Endocrinol Diabetes Metab 2015;20(4):178-81. doi: 10.18544/PEDM-20.04.0018. PMID: 26615585
Caletti MG, Balestracci A, Di Pinto D
Pediatr Nephrol 2014 Mar;29(3):487-90. Epub 2013 Dec 14 doi: 10.1007/s00467-013-2689-z. PMID: 24337364

Prognosis

Bockenhauer D, Bichet DG
Curr Opin Pediatr 2017 Apr;29(2):199-205. doi: 10.1097/MOP.0000000000000473. PMID: 28134709
Yamashita S, Hata A, Usui T, Oda H, Hijikata A, Shirai T, Kaneko N, Hata D
J Pediatr Endocrinol Metab 2016 May 1;29(5):591-6. doi: 10.1515/jpem-2015-0323. PMID: 26974133
Schernthaner-Reiter MH, Adams D, Trivellin G, Ramnitz MS, Raygada M, Golas G, Faucz FR, Nilsson O, Nella AA, Dileepan K, Lodish M, Lee P, Tifft C, Markello T, Gahl W, Stratakis CA
Eur J Pediatr 2016 May;175(5):727-33. Epub 2016 Jan 21 doi: 10.1007/s00431-015-2684-4. PMID: 26795631
Saglar E, Deniz F, Erdem B, Karaduman T, Yönem A, Cagiltay E, Mergen H
Endocrine 2014 May;46(1):148-53. Epub 2013 Sep 13 doi: 10.1007/s12020-013-0043-7. PMID: 24026507
Kamath C, Govindan J, Premawardhana AD, Wood SJ, Adlan MA, Premawardhana LD
Clin Med (Lond) 2013 Aug;13(4):407-10. doi: 10.7861/clinmedicine.13-4-407. PMID: 23908517

Clinical prediction guides

Muyldermans M, Jennes S, Morrison S, Soete O, François PM, Keersebilck E, Rose T, Pantet O
Crit Care Med 2016 Dec;44(12):e1246-e1250. doi: 10.1097/CCM.0000000000001956. PMID: 27414478
Schernthaner-Reiter MH, Adams D, Trivellin G, Ramnitz MS, Raygada M, Golas G, Faucz FR, Nilsson O, Nella AA, Dileepan K, Lodish M, Lee P, Tifft C, Markello T, Gahl W, Stratakis CA
Eur J Pediatr 2016 May;175(5):727-33. Epub 2016 Jan 21 doi: 10.1007/s00431-015-2684-4. PMID: 26795631
Dayal D, Verma Attri S, Kumar Bhalla A, Kumar R
Pediatr Endocrinol Diabetes Metab 2015;20(4):178-81. doi: 10.18544/PEDM-20.04.0018. PMID: 26615585
Bockenhauer D, Bichet DG
Am J Physiol Renal Physiol 2013 Apr 15;304(8):F1037-42. Epub 2013 Jan 30 doi: 10.1152/ajprenal.00639.2012. PMID: 23364801
Ingemi AI, Bota VM, Peguero A, Charpentier M
Pharmacotherapy 2012 Jan;32(1):e12-6. doi: 10.1002/PHAR.1013. PMID: 22392832

Recent systematic reviews

Rej S, Pira S, Marshe V, Do A, Elie D, Looper KJ, Herrmann N, Müller DJ
Int Urol Nephrol 2016 Nov;48(11):1843-1853. Epub 2016 Jun 29 doi: 10.1007/s11255-016-1352-6. PMID: 27357223
Miell J, Dhanjal P, Jamookeeah C
Int J Clin Pract 2015 Dec;69(12):1396-417. Epub 2015 Aug 19 doi: 10.1111/ijcp.12713. PMID: 26289137Free PMC Article
Spanakis E, Milord E, Gragnoli C
J Cell Physiol 2008 Dec;217(3):605-17. doi: 10.1002/jcp.21552. PMID: 18726898
Peters HP, Robben JH, Deen PM, Wetzels JF
Neth J Med 2007 Oct;65(9):325-32. PMID: 17954951
Garofeanu CG, Weir M, Rosas-Arellano MP, Henson G, Garg AX, Clark WF
Am J Kidney Dis 2005 Apr;45(4):626-37. PMID: 15806465

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