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Nephrogenic diabetes insipidus

MedGen UID:
57876
Concept ID:
C0162283
Disease or Syndrome
Synonyms: ADH resistant diabetes insipidus; Diabetes insipidus nephrogenic X-linked; Vasopressin-resistant diabetes insipidus
SNOMED CT: Nephrogenic diabetes insipidus (111395007); NDI - Nephrogenic diabetes insipidus (111395007)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same 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
Source: 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
Source: 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.
 
Related genes: AVPR2, AQP2
 
HPO: HP:0009806
Monarch Initiative: MONDO:0016383
Orphanet: ORPHA223

Disease characteristics

Excerpted from the GeneReview: Hereditary Nephrogenic Diabetes Insipidus
Hereditary 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  |  Henny Lemmink   view full author information

Additional description

From MedlinePlus Genetics
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 should not be confused with diabetes mellitus, which is much more common. Diabetes mellitus is characterized by high blood sugar (glucose) 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.

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.  https://medlineplus.gov/genetics/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

Diabetes insipidus, nephrogenic, autosomal
MedGen UID:
289643
Concept ID:
C1563706
Disease or Syndrome
Hereditary 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.
Nephrogenic diabetes insipidus-intracranial calcification syndrome
MedGen UID:
387791
Concept ID:
C1857297
Disease or Syndrome
A rare, genetic, renal tubular disease characterised by nephrogenic diabetes insipidus, intracerebral calcifications, intellectual disability, short stature and facial dysmorphism. There have been no further descriptions in the literature since 1990.
Arthrogryposis, renal dysfunction, and cholestasis 1
MedGen UID:
347219
Concept ID:
C1859722
Disease or Syndrome
Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VPS33B gene.
Bardet-Biedl syndrome 1
MedGen UID:
422452
Concept ID:
C2936862
Disease or Syndrome
Bardet-Biedl syndrome is an autosomal recessive and genetically heterogeneous ciliopathy characterized by retinitis pigmentosa, obesity, kidney dysfunction, polydactyly, behavioral dysfunction, and hypogonadism (summary by Beales et al., 1999). Eight proteins implicated in the disorder assemble to form the BBSome, a stable complex involved in signaling receptor trafficking to and from cilia (summary by Scheidecker et al., 2014). Genetic Heterogeneity of Bardet-Biedl Syndrome BBS2 (615981) is caused by mutation in a gene on 16q13 (606151); BBS3 (600151), by mutation in the ARL6 gene on 3q11 (608845); BBS4 (615982), by mutation in a gene on 15q22 (600374); BBS5 (615983), by mutation in a gene on 2q31 (603650); BBS6 (605231), by mutation in the MKKS gene on 20p12 (604896); BBS7 (615984), by mutation in a gene on 4q27 (607590); BBS8 (615985), by mutation in the TTC8 gene on 14q32 (608132); BBS9 (615986), by mutation in a gene on 7p14 (607968); BBS10 (615987), by mutation in a gene on 12q21 (610148); BBS11 (615988), by mutation in the TRIM32 gene on 9q33 (602290); BBS12 (615989), by mutation in a gene on 4q27 (610683); BBS13 (615990), by mutation in the MKS1 gene (609883) on 17q23; BBS14 (615991), by mutation in the CEP290 gene (610142) on 12q21, BBS15 (615992), by mutation in the WDPCP gene (613580) on 2p15; BBS16 (615993), by mutation in the SDCCAG8 gene (613524) on 1q43; BBS17 (615994), by mutation in the LZTFL1 gene (606568) on 3p21; BBS18 (615995), by mutation in the BBIP1 gene (613605) on 10q25; BBS19 (615996), by mutation in the IFT27 gene (615870) on 22q12; BBS20 (619471), by mutation in the IFT172 gene (607386) on 9p21; BBS21 (617406), by mutation in the CFAP418 gene (614477) on 8q22; and BBS22 (617119), by mutation in the IFT74 gene (608040) on 9p21. The CCDC28B gene (610162) modifies the expression of BBS phenotypes in patients who have mutations in other genes. Mutations in MKS1, MKS3 (TMEM67; 609884), and C2ORF86 also modify the expression of BBS phenotypes in patients who have mutations in other genes. Although BBS had originally been thought to be a recessive disorder, Katsanis et al. (2001) demonstrated that clinical manifestation of some forms of Bardet-Biedl syndrome requires recessive mutations in 1 of the 6 loci plus an additional mutation in a second locus. While Katsanis et al. (2001) called this 'triallelic inheritance,' Burghes et al. (2001) suggested the term 'recessive inheritance with a modifier of penetrance.' Mykytyn et al. (2002) found no evidence of involvement of the common BBS1 mutation in triallelic inheritance. However, Fan et al. (2004) found heterozygosity in a mutation of the BBS3 gene (608845.0002) as an apparent modifier of the expression of homozygosity of the met390-to-arg mutation in the BBS1 gene (209901.0001). Allelic disorders include nonsyndromic forms of retinitis pigmentosa: RP51 (613464), caused by TTC8 mutation, and RP55 (613575), caused by ARL6 mutation.
Arthrogryposis, renal dysfunction, and cholestasis 2
MedGen UID:
462022
Concept ID:
C3150672
Disease or Syndrome
Arthrogryposis, renal dysfunction, and cholestasis-2 (ARCS2) is a multisystem disorder associated with abnormalities in polarized liver and kidney cells (Qiu et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of ARCS, see ARCS1 (208085).
Combined oxidative phosphorylation deficiency 57
MedGen UID:
1824048
Concept ID:
C5774275
Disease or Syndrome
Combined oxidative phosphorylation deficiency-57 (COXPD57) is an autosomal recessive multisystem mitochondrial disease with varying degrees of severity from premature death in infancy to permanent disability in young adulthood (Lee et al., 2022). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).

Professional guidelines

PubMed

Christ-Crain M, Winzeler B, Refardt J
J Intern Med 2021 Jul;290(1):73-87. Epub 2021 Mar 13 doi: 10.1111/joim.13261. PMID: 33713498
Refardt J
Best Pract Res Clin Endocrinol Metab 2020 Sep;34(5):101398. Epub 2020 Feb 28 doi: 10.1016/j.beem.2020.101398. PMID: 32387127
Makaryus AN, McFarlane SI
Cleve Clin J Med 2006 Jan;73(1):65-71. doi: 10.3949/ccjm.73.1.65. PMID: 16444918

Curated

UK NICE Guideline NG19, Diabetic foot problems: prevention and management, 2019

Recent clinical studies

Etiology

Arima H, Cheetham T, Christ-Crain M, Cooper D, Drummond J, Gurnell M, Levy M, McCormack A, Newell-Price J, Verbalis JG, Wass J; Working Group for Renaming Diabetes Insipidus
J Clin Endocrinol Metab 2022 Dec 17;108(1):1-3. doi: 10.1210/clinem/dgac547. PMID: 36355385Free PMC Article
Davis J, Desmond M, Berk M
BMC Nephrol 2018 Nov 3;19(1):305. doi: 10.1186/s12882-018-1101-4. PMID: 30390660Free PMC Article
Baird-Gunning J, Lea-Henry T, Hoegberg LCG, Gosselin S, Roberts DM
J Intensive Care Med 2017 May;32(4):249-263. Epub 2016 Aug 11 doi: 10.1177/0885066616651582. PMID: 27516079
Laniado-Laborín R, Cabrales-Vargas MN
Rev Iberoam Micol 2009 Dec 31;26(4):223-7. doi: 10.1016/j.riam.2009.06.003. PMID: 19836985
Bendz H, Aurell M
Drug Saf 1999 Dec;21(6):449-56. doi: 10.2165/00002018-199921060-00002. PMID: 10612269

Diagnosis

Christ-Crain M, Winzeler B, Refardt J
J Intern Med 2021 Jul;290(1):73-87. Epub 2021 Mar 13 doi: 10.1111/joim.13261. PMID: 33713498
Refardt J, Winzeler B, Christ-Crain M
Endocrinol Metab Clin North Am 2020 Sep;49(3):517-531. Epub 2020 Jul 15 doi: 10.1016/j.ecl.2020.05.012. PMID: 32741486
Dabrowski E, Kadakia R, Zimmerman D
Best Pract Res Clin Endocrinol Metab 2016 Mar;30(2):317-28. Epub 2016 Feb 27 doi: 10.1016/j.beem.2016.02.006. PMID: 27156767
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
Makaryus AN, McFarlane SI
Cleve Clin J Med 2006 Jan;73(1):65-71. doi: 10.3949/ccjm.73.1.65. PMID: 16444918

Therapy

Mifsud S, Cilia K, Mifsud EL, Gruppetta M
Br J Hosp Med (Lond) 2020 Nov 2;81(11):1-9. Epub 2020 Nov 17 doi: 10.12968/hmed.2020.0457. PMID: 33263481
Kavanagh C, Uy NS
Pediatr Clin North Am 2019 Feb;66(1):227-234. doi: 10.1016/j.pcl.2018.09.006. PMID: 30454745
Dabrowski E, Kadakia R, Zimmerman D
Best Pract Res Clin Endocrinol Metab 2016 Mar;30(2):317-28. Epub 2016 Feb 27 doi: 10.1016/j.beem.2016.02.006. PMID: 27156767
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
Bendz H, Aurell M
Drug Saf 1999 Dec;21(6):449-56. doi: 10.2165/00002018-199921060-00002. PMID: 10612269

Prognosis

Fotso Soh J, Torres-Platas SG, Beaulieu S, Mantere O, Platt R, Mucsi I, Saury S, Renaud S, Levinson A, Andreazza AC, Mulsant BH, Müller D, Schaffer A, Dols A, Cervantes P, Low NC, Herrmann N, Christensen BM, Trepiccione F, Rajji T, Rej S
BMC Psychiatry 2018 Jul 16;18(1):227. doi: 10.1186/s12888-018-1793-9. PMID: 30012135Free PMC Article
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Bendz H, Aurell M
Drug Saf 1999 Dec;21(6):449-56. doi: 10.2165/00002018-199921060-00002. PMID: 10612269
Knoers NV, Monnens LL
Semin Nephrol 1999 Jul;19(4):344-52. PMID: 10435672
Bell TN
Crit Care Nurs Clin North Am 1994 Dec;6(4):675-85. PMID: 7766345

Clinical prediction guides

Fotso Soh J, Torres-Platas SG, Beaulieu S, Mantere O, Platt R, Mucsi I, Saury S, Renaud S, Levinson A, Andreazza AC, Mulsant BH, Müller D, Schaffer A, Dols A, Cervantes P, Low NC, Herrmann N, Christensen BM, Trepiccione F, Rajji T, Rej S
BMC Psychiatry 2018 Jul 16;18(1):227. doi: 10.1186/s12888-018-1793-9. PMID: 30012135Free PMC Article
Baird-Gunning J, Lea-Henry T, Hoegberg LCG, Gosselin S, Roberts DM
J Intensive Care Med 2017 May;32(4):249-263. Epub 2016 Aug 11 doi: 10.1177/0885066616651582. PMID: 27516079
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G Ital Nefrol 2016 Feb;33 Suppl 66:33.S66.1. PMID: 26913870
Di Iorgi N, Napoli F, Allegri AE, Olivieri I, Bertelli E, Gallizia A, Rossi A, Maghnie M
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Recent systematic reviews

Damba JJ, Bodenstein K, Lavin P, Drury J, Sekhon H, Renoux C, Trinh E, Rej S, Greenway KT
CNS Drugs 2022 Oct;36(10):1049-1077. Epub 2022 Sep 26 doi: 10.1007/s40263-022-00952-y. PMID: 36161425
Schoot TS, Molmans THJ, Grootens KP, Kerckhoffs APM
Eur Neuropsychopharmacol 2020 Feb;31:16-32. Epub 2019 Dec 11 doi: 10.1016/j.euroneuro.2019.11.006. PMID: 31837914
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
Rej S, Herrmann N, Shulman K
J Geriatr Psychiatry Neurol 2012 Mar;25(1):51-61. doi: 10.1177/0891988712436690. PMID: 22467847
Garofeanu CG, Weir M, Rosas-Arellano MP, Henson G, Garg AX, Clark WF
Am J Kidney Dis 2005 Apr;45(4):626-37. doi: 10.1053/j.ajkd.2005.01.008. PMID: 15806465

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    Curated

    • NICE, 2019
      UK NICE Guideline NG19, Diabetic foot problems: prevention and management, 2019

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