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Hearing loss, autosomal dominant 34, with or without inflammation(DFNA34)

MedGen UID:
1626346
Concept ID:
C4521680
Disease or Syndrome
Synonym: Deafness, autosomal dominant 34, with or without inflammation
 
Gene (location): NLRP3 (1q44)
 
Monarch Initiative: MONDO:0033261
OMIM®: 617772

Definition

DFNA34 is an autosomal dominant form of postlingual, slowly progressive sensorineural hearing loss with variable severity and variable additional features. Some patients have pure hearing loss without significant additional features, whereas some patients have features of an autoinflammatory disorder with systemic manifestations, including periodic fevers, arthralgias, and episodic urticaria. The disorder results from abnormally increased activation of the inflammatory pathway, and treatment with an IL1 receptor antagonist (see 147679) may be effective if started early (summary by Nakanishi et al., 2017). [from OMIM]

Clinical features

From HPO
Arthralgia
MedGen UID:
13917
Concept ID:
C0003862
Sign or Symptom
Joint pain.
Headache
MedGen UID:
9149
Concept ID:
C0018681
Sign or Symptom
Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.
Arthritis
MedGen UID:
2043
Concept ID:
C0003864
Disease or Syndrome
Inflammation of a joint.
Conjunctivitis
MedGen UID:
1093
Concept ID:
C0009763
Disease or Syndrome
Inflammation of the conjunctiva.
Lymphadenopathy
MedGen UID:
96929
Concept ID:
C0497156
Disease or Syndrome
Enlargement (swelling) of a lymph node.
Fever
MedGen UID:
5169
Concept ID:
C0015967
Sign or Symptom
Body temperature elevated above the normal range.
Periodic fever
MedGen UID:
798670
Concept ID:
C0015974
Disease or Syndrome
Episodic fever that recurs at regular intervals.
Urticaria
MedGen UID:
22587
Concept ID:
C0042109
Disease or Syndrome
Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure.

Professional guidelines

PubMed

Kelly CR, Fischer M, Allegretti JR, LaPlante K, Stewart DB, Limketkai BN, Stollman NH
Am J Gastroenterol 2021 Jun 1;116(6):1124-1147. doi: 10.14309/ajg.0000000000001278. PMID: 34003176
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Gotts JE, Matthay MA
BMJ 2016 May 23;353:i1585. doi: 10.1136/bmj.i1585. PMID: 27217054

Recent clinical studies

Etiology

Soehnlein O, Libby P
Nat Rev Drug Discov 2021 Aug;20(8):589-610. Epub 2021 May 11 doi: 10.1038/s41573-021-00198-1. PMID: 33976384Free PMC Article
Singh N, Baby D, Rajguru JP, Patil PB, Thakkannavar SS, Pujari VB
Ann Afr Med 2019 Jul-Sep;18(3):121-126. doi: 10.4103/aam.aam_56_18. PMID: 31417011Free PMC Article
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Jordan MB, Allen CE, Weitzman S, Filipovich AH, McClain KL
Blood 2011 Oct 13;118(15):4041-52. Epub 2011 Aug 9 doi: 10.1182/blood-2011-03-278127. PMID: 21828139Free PMC Article
Libby P
Nature 2002 Dec 19-26;420(6917):868-74. doi: 10.1038/nature01323. PMID: 12490960

Diagnosis

Twarowski B, Herbet M
Int J Mol Sci 2023 Mar 30;24(7) doi: 10.3390/ijms24076518. PMID: 37047492Free PMC Article
Khan J, Asoom LIA, Sunni AA, Rafique N, Latif R, Saif SA, Almandil NB, Almohazey D, AbdulAzeez S, Borgio JF
Biomed Pharmacother 2021 Jul;139:111557. Epub 2021 May 17 doi: 10.1016/j.biopha.2021.111557. PMID: 34243621
Roe K
Scand J Immunol 2021 Feb;93(2):e12970. Epub 2020 Sep 18 doi: 10.1111/sji.12970. PMID: 32892387
Gerke AK
Front Immunol 2020;11:545413. Epub 2020 Nov 19 doi: 10.3389/fimmu.2020.545413. PMID: 33329511Free PMC Article
Germolec DR, Shipkowski KA, Frawley RP, Evans E
Methods Mol Biol 2018;1803:57-79. doi: 10.1007/978-1-4939-8549-4_5. PMID: 29882133

Therapy

Soehnlein O, Libby P
Nat Rev Drug Discov 2021 Aug;20(8):589-610. Epub 2021 May 11 doi: 10.1038/s41573-021-00198-1. PMID: 33976384Free PMC Article
Gerke AK
Front Immunol 2020;11:545413. Epub 2020 Nov 19 doi: 10.3389/fimmu.2020.545413. PMID: 33329511Free PMC Article
Murphy SP, Kakkar R, McCarthy CP, Januzzi JL Jr
J Am Coll Cardiol 2020 Mar 24;75(11):1324-1340. doi: 10.1016/j.jacc.2020.01.014. PMID: 32192660
Drucker DJ
Cell Metab 2016 Jul 12;24(1):15-30. Epub 2016 Jun 23 doi: 10.1016/j.cmet.2016.06.009. PMID: 27345422
Bower JE
Nat Rev Clin Oncol 2014 Oct;11(10):597-609. Epub 2014 Aug 12 doi: 10.1038/nrclinonc.2014.127. PMID: 25113839Free PMC Article

Prognosis

Markwart R, Saito H, Harder T, Tomczyk S, Cassini A, Fleischmann-Struzek C, Reichert F, Eckmanns T, Allegranzi B
Intensive Care Med 2020 Aug;46(8):1536-1551. Epub 2020 Jun 26 doi: 10.1007/s00134-020-06106-2. PMID: 32591853Free PMC Article
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Sci Rep 2019 Mar 1;9(1):3284. doi: 10.1038/s41598-019-39150-0. PMID: 30824727Free PMC Article
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Rhee C, Dantes R, Epstein L, Murphy DJ, Seymour CW, Iwashyna TJ, Kadri SS, Angus DC, Danner RL, Fiore AE, Jernigan JA, Martin GS, Septimus E, Warren DK, Karcz A, Chan C, Menchaca JT, Wang R, Gruber S, Klompas M; CDC Prevention Epicenter Program
JAMA 2017 Oct 3;318(13):1241-1249. doi: 10.1001/jama.2017.13836. PMID: 28903154Free PMC Article
Vincent JL, Sakr Y, Sprung CL, Ranieri VM, Reinhart K, Gerlach H, Moreno R, Carlet J, Le Gall JR, Payen D; Sepsis Occurrence in Acutely Ill Patients Investigators
Crit Care Med 2006 Feb;34(2):344-53. doi: 10.1097/01.ccm.0000194725.48928.3a. PMID: 16424713

Clinical prediction guides

Yamamoto T, Kawada K, Obama K
Int J Mol Sci 2021 Jul 27;22(15) doi: 10.3390/ijms22158002. PMID: 34360768Free PMC Article
Rochlani Y, Pothineni NV, Kovelamudi S, Mehta JL
Ther Adv Cardiovasc Dis 2017 Aug;11(8):215-225. Epub 2017 Jun 22 doi: 10.1177/1753944717711379. PMID: 28639538Free PMC Article
Bray C, Bell LN, Liang H, Haykal R, Kaiksow F, Mazza JJ, Yale SH
WMJ 2016 Dec;115(6):317-21. PMID: 29094869
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Recent systematic reviews

Dainese P, Wyngaert KV, De Mits S, Wittoek R, Van Ginckel A, Calders P
Osteoarthritis Cartilage 2022 Apr;30(4):516-534. Epub 2021 Dec 27 doi: 10.1016/j.joca.2021.12.003. PMID: 34968719
Ulven SM, Holven KB, Gil A, Rangel-Huerta OD
Adv Nutr 2019 May 1;10(suppl_2):S239-S250. doi: 10.1093/advances/nmy072. PMID: 31089732Free PMC Article
Bordoni A, Danesi F, Dardevet D, Dupont D, Fernandez AS, Gille D, Nunes Dos Santos C, Pinto P, Re R, Rémond D, Shahar DR, Vergères G
Crit Rev Food Sci Nutr 2017 Aug 13;57(12):2497-2525. doi: 10.1080/10408398.2014.967385. PMID: 26287637
Soysal P, Stubbs B, Lucato P, Luchini C, Solmi M, Peluso R, Sergi G, Isik AT, Manzato E, Maggi S, Maggio M, Prina AM, Cosco TD, Wu YT, Veronese N
Ageing Res Rev 2016 Nov;31:1-8. Epub 2016 Aug 31 doi: 10.1016/j.arr.2016.08.006. PMID: 27592340
Irwin MR, Olmstead R, Carroll JE
Biol Psychiatry 2016 Jul 1;80(1):40-52. Epub 2015 Jun 1 doi: 10.1016/j.biopsych.2015.05.014. PMID: 26140821Free PMC Article

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