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Dent disease

MedGen UID:
168056
Concept ID:
C0878681
Disease or Syndrome
Synonym: Dent's disease
SNOMED CT: Dent disease (444645005); Dent's disease (444645005)
Modes of inheritance:
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: OCRL, CLCN5
 
Monarch Initiative: MONDO:0015612
OMIM®: 300008
OMIM® Phenotypic series: PS300009
Orphanet: ORPHA1652

Disease characteristics

Excerpted from the GeneReview: Dent Disease
Dent disease, an X-linked disorder of proximal renal tubular dysfunction, is characterized by low molecular weight (LMW) proteinuria, hypercalciuria, and at least one additional finding including nephrocalcinosis, nephrolithiasis, hematuria, hypophosphatemia, chronic kidney disease (CKD), and evidence of X-linked inheritance. Males younger than age ten years may manifest only LMW proteinuria and/or hypercalciuria, which are usually asymptomatic. Thirty to 80% of affected males develop end-stage renal disease (ESRD) between ages 30 and 50 years; in some instances ESRD does not develop until the sixth decade of life or later. The disease may also be accompanied by rickets or osteomalacia, growth restriction, and short stature. Disease severity can vary within the same family. Males with Dent disease 2 (caused by pathogenic variants in OCRL) may also have mild intellectual disability, cataracts, and/or elevated muscle enzymes. Due to random X-chromosome inactivation, some female carriers may manifest hypercalciuria and, rarely, renal calculi and moderate LMW proteinuria. Females rarely develop CKD. [from GeneReviews]
Authors:
John C Lieske  |  Dawn S Milliner  |  Lada Beara-Lasic, et. al.   view full author information

Professional guidelines

PubMed

Huang L, Qi C, Zhu G, Ding J, Yuan L, Sun J, He X, Wang X
Mol Genet Genomics 2022 Jul;297(4):1049-1061. Epub 2022 May 25 doi: 10.1007/s00438-022-01897-z. PMID: 35612621Free PMC Article
Haffner D, Leifheit-Nestler M, Grund A, Schnabel D
Pediatr Nephrol 2022 Oct;37(10):2289-2302. Epub 2022 Mar 29 doi: 10.1007/s00467-022-05505-5. PMID: 35352187Free PMC Article
Gianesello L, Arroyo J, Del Prete D, Priante G, Ceol M, Harris PC, Lieske JC, Anglani F
Genes (Basel) 2021 Oct 11;12(10) doi: 10.3390/genes12101597. PMID: 34680992Free PMC Article

Recent clinical studies

Etiology

Barbour SJ, Coppo R, Er L, Pillebout E, Russo ML, Alpers CE, Fogo AB, Ferrario F, Jennette JC, Roberts ISD, Cook HT, Ding J, Su B, Zhong X, Fervenza FC, Zand L, Peruzzi L, Lucchetti L, Katafuchi R, Shima Y, Yoshikawa N, Ichikawa D, Suzuki Y, Murer L, Wyatt RJ, Park C, Nelson RD, Narus JH, Wenderfer S, Geetha D, Daugas E, Monteiro RC, Nakatani S, Mastrangelo A, Nuutinen M, Koskela M, Weber LT, Hackl A, Pohl M, Pecoraro C, Tsuboi N, Yokoo T, Takafumi I, Fujimoto S, Conti G, Santoro D, Materassi M, Zhang H, Shi S, Liu ZH, Tesar V, Maixnerova D, Avila-Casado C, Bajema I, Barreca A, Becker JU, Comstock JM, Cornea V, Eldin K, Hernandez LH, Hou J, Joh K, Lin M, Messias N, Muda AO, Pagni F, Diomedi-Camassei F, Tokola H, D'Armiento M, Seidl M, Rosenberg A, Sannier A, Soares MF, Wang S, Zeng C, Haas M
Clin J Am Soc Nephrol 2024 Apr 1;19(4):438-451. Epub 2024 Jan 23 doi: 10.2215/CJN.0000000000000398. PMID: 38261310Free PMC Article
Burballa C, Cantero-Recasens G, Prikhodina L, Lugani F, Schlingmann K, Ananin PV, Besouw M, Bockenhauer D, Madariaga L, Bertholet-Thomas A, Taroni F, Parolin M, Conlon P, Emma F, Del Prete D, Chauveau D, Koster-Kamphuis L, Fila M, Pasini A, Castro I, Colussi G, Gil M, Mohidin B, Wlodkowski T, Schaefer F, Ariceta G; DENT study group
Nephrol Dial Transplant 2023 May 31;38(6):1497-1507. doi: 10.1093/ndt/gfac310. PMID: 36441012
Huang L, Qi C, Zhu G, Ding J, Yuan L, Sun J, He X, Wang X
Mol Genet Genomics 2022 Jul;297(4):1049-1061. Epub 2022 May 25 doi: 10.1007/s00438-022-01897-z. PMID: 35612621Free PMC Article
Clark AJ, Jabs K, Hunley TE, Jones DP, VanDeVoorde RG, Anderson C, Du L, Zhong J, Fogo AB, Yang H, Kon V
Pediatr Nephrol 2019 Nov;34(11):2351-2360. Epub 2019 Jun 23 doi: 10.1007/s00467-019-04289-5. PMID: 31230128Free PMC Article
Veser J, Özsoy M, Seitz C
Curr Opin Urol 2018 Sep;28(5):414-419. doi: 10.1097/MOU.0000000000000522. PMID: 29957682

Diagnosis

Marik B, Bagga A, Sinha A, Khandelwal P, Hari P, Sharma A
Eur J Med Genet 2022 Aug;65(8):104540. Epub 2022 Jun 21 doi: 10.1016/j.ejmg.2022.104540. PMID: 35738466
Jin YY, Huang LM, Quan XF, Mao JH
World J Pediatr 2021 Feb;17(1):52-57. Epub 2020 Apr 4 doi: 10.1007/s12519-020-00357-1. PMID: 32248351
Foreman JW
Pediatr Clin North Am 2019 Feb;66(1):159-167. doi: 10.1016/j.pcl.2018.09.002. PMID: 30454741
Veser J, Özsoy M, Seitz C
Curr Opin Urol 2018 Sep;28(5):414-419. doi: 10.1097/MOU.0000000000000522. PMID: 29957682
Bökenkamp A, Ludwig M
Pediatr Nephrol 2016 Dec;31(12):2201-2212. Epub 2016 Mar 24 doi: 10.1007/s00467-016-3343-3. PMID: 27011217Free PMC Article

Therapy

Haffner D, Leifheit-Nestler M, Grund A, Schnabel D
Pediatr Nephrol 2022 Oct;37(10):2289-2302. Epub 2022 Mar 29 doi: 10.1007/s00467-022-05505-5. PMID: 35352187Free PMC Article
Deng H, Zhang Y, Xiao H, Yao Y, Zhang H, Liu X, Su B, Guan N, Zhong X, Wang S, Ding J, Wang F
Mol Genet Genomic Med 2020 Aug;8(8):e1306. Epub 2020 Jun 3 doi: 10.1002/mgg3.1306. PMID: 32495484Free PMC Article
Beara-Lasic L, Cogal A, Mara K, Enders F, Mehta RA, Haskic Z, Furth SL, Trachtman H, Scheinman SJ, Milliner DS, Goldfarb DS, Harris PC, Lieske JC; investigators of the Rare Kidney Stone Consortium
Pediatr Nephrol 2020 Apr;35(4):633-640. Epub 2019 Mar 10 doi: 10.1007/s00467-019-04210-0. PMID: 30852663Free PMC Article
Fervenza FC
Clin J Am Soc Nephrol 2013 Nov;8(11):1979-87. Epub 2013 Jul 25 doi: 10.2215/CJN.03400313. PMID: 23886564Free PMC Article
Vaisbich MH, Henriques Ldos S, Igarashi T, Sekine T, Seki G, Koch VH
J Bras Nefrol 2012 Mar;34(1):78-81. PMID: 22441187

Prognosis

Barbour SJ, Coppo R, Er L, Pillebout E, Russo ML, Alpers CE, Fogo AB, Ferrario F, Jennette JC, Roberts ISD, Cook HT, Ding J, Su B, Zhong X, Fervenza FC, Zand L, Peruzzi L, Lucchetti L, Katafuchi R, Shima Y, Yoshikawa N, Ichikawa D, Suzuki Y, Murer L, Wyatt RJ, Park C, Nelson RD, Narus JH, Wenderfer S, Geetha D, Daugas E, Monteiro RC, Nakatani S, Mastrangelo A, Nuutinen M, Koskela M, Weber LT, Hackl A, Pohl M, Pecoraro C, Tsuboi N, Yokoo T, Takafumi I, Fujimoto S, Conti G, Santoro D, Materassi M, Zhang H, Shi S, Liu ZH, Tesar V, Maixnerova D, Avila-Casado C, Bajema I, Barreca A, Becker JU, Comstock JM, Cornea V, Eldin K, Hernandez LH, Hou J, Joh K, Lin M, Messias N, Muda AO, Pagni F, Diomedi-Camassei F, Tokola H, D'Armiento M, Seidl M, Rosenberg A, Sannier A, Soares MF, Wang S, Zeng C, Haas M
Clin J Am Soc Nephrol 2024 Apr 1;19(4):438-451. Epub 2024 Jan 23 doi: 10.2215/CJN.0000000000000398. PMID: 38261310Free PMC Article
Gianesello L, Del Prete D, Anglani F, Calò LA
Hum Genet 2021 Mar;140(3):401-421. Epub 2020 Aug 29 doi: 10.1007/s00439-020-02219-2. PMID: 32860533Free PMC Article
Dickson FJ, Sayer JA
Int J Mol Sci 2020 Jan 6;21(1) doi: 10.3390/ijms21010369. PMID: 31935940Free PMC Article
van Berkel Y, Ludwig M, van Wijk JAE, Bökenkamp A
Pediatr Nephrol 2017 Oct;32(10):1851-1859. Epub 2016 Oct 18 doi: 10.1007/s00467-016-3499-x. PMID: 27757584Free PMC Article
Devuyst O, Thakker RV
Orphanet J Rare Dis 2010 Oct 14;5:28. doi: 10.1186/1750-1172-5-28. PMID: 20946626Free PMC Article

Clinical prediction guides

Barbour SJ, Coppo R, Er L, Pillebout E, Russo ML, Alpers CE, Fogo AB, Ferrario F, Jennette JC, Roberts ISD, Cook HT, Ding J, Su B, Zhong X, Fervenza FC, Zand L, Peruzzi L, Lucchetti L, Katafuchi R, Shima Y, Yoshikawa N, Ichikawa D, Suzuki Y, Murer L, Wyatt RJ, Park C, Nelson RD, Narus JH, Wenderfer S, Geetha D, Daugas E, Monteiro RC, Nakatani S, Mastrangelo A, Nuutinen M, Koskela M, Weber LT, Hackl A, Pohl M, Pecoraro C, Tsuboi N, Yokoo T, Takafumi I, Fujimoto S, Conti G, Santoro D, Materassi M, Zhang H, Shi S, Liu ZH, Tesar V, Maixnerova D, Avila-Casado C, Bajema I, Barreca A, Becker JU, Comstock JM, Cornea V, Eldin K, Hernandez LH, Hou J, Joh K, Lin M, Messias N, Muda AO, Pagni F, Diomedi-Camassei F, Tokola H, D'Armiento M, Seidl M, Rosenberg A, Sannier A, Soares MF, Wang S, Zeng C, Haas M
Clin J Am Soc Nephrol 2024 Apr 1;19(4):438-451. Epub 2024 Jan 23 doi: 10.2215/CJN.0000000000000398. PMID: 38261310Free PMC Article
Huang L, Qi C, Zhu G, Ding J, Yuan L, Sun J, He X, Wang X
Mol Genet Genomics 2022 Jul;297(4):1049-1061. Epub 2022 May 25 doi: 10.1007/s00438-022-01897-z. PMID: 35612621Free PMC Article
Ramya K, Krishnamurthy S, Sivamurukan P
Indian Pediatr 2020 May 15;57(5):415-419. Epub 2020 Mar 12 PMID: 32221050
Anglani F, Gianesello L, Beara-Lasic L, Lieske J
J Cell Mol Med 2019 Nov;23(11):7132-7142. Epub 2019 Aug 31 doi: 10.1111/jcmm.14590. PMID: 31472005Free PMC Article
Ludwig M, Sethi SK
Int Urol Nephrol 2011 Dec;43(4):1107-15. Epub 2011 Mar 1 doi: 10.1007/s11255-011-9914-0. PMID: 21360162

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