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Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss(PFIC7)

MedGen UID:
1794253
•Concept ID:
C5562043
•
Disease or Syndrome
Synonyms: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 7, WITH OR WITHOUT HEARING LOSS; PFIC7
 
Gene (location): USP53 (4q26)
 
Monarch Initiative: MONDO:0030503
OMIM®: 619658

Definition

Progressive intrahepatic cholestasis-7 with or without hearing loss (PFIC7) is an autosomal recessive liver disorder characterized by infantile-onset jaundice and itching associated with cholestasis, elevated alanine aminotransferase (ALT) and aspartate aminotransferase (AST), and normal gamma glutamyltransferase (GGT). Liver biopsy shows hepatocellular and canalicular cholestasis with fibrotic changes. Many patients have resolution of the liver abnormalities with age, although some may have persistent liver enzyme abnormalities or splenomegaly. A subset of patients develops hearing loss in childhood between early infancy and the teenage years. Rifampicin may be effective for pruritis (summary by Maddirevula et al., 2019). For a discussion of genetic heterogeneity of PFIC, see PFIC1 (211600). [from OMIM]

Clinical features

From HPO
Cholestasis
MedGen UID:
925
•Concept ID:
C0008370
•
Disease or Syndrome
Impairment of bile flow due to obstruction in bile ducts.
See: Feature record | Search on this feature
Jaundice
MedGen UID:
43987
•Concept ID:
C0022346
•
Sign or Symptom
Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.
See: Feature record | Search on this feature
Hepatic fibrosis
MedGen UID:
116093
•Concept ID:
C0239946
•
Disease or Syndrome
The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process.
See: Feature record | Search on this feature
Hepatic bridging fibrosis
MedGen UID:
868315
•Concept ID:
C4022709
•
Disease or Syndrome
Hepatic fibrosis that reaches from a portal area to another portal area.
See: Feature record | Search on this feature
Hearing impairment
MedGen UID:
235586
•Concept ID:
C1384666
•
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
See: Feature record | Search on this feature
Splenomegaly
MedGen UID:
52469
•Concept ID:
C0038002
•
Finding
Abnormal increased size of the spleen.
See: Feature record | Search on this feature
Hypocalcemia
MedGen UID:
5705
•Concept ID:
C0020598
•
Disease or Syndrome
An abnormally decreased calcium concentration in the blood.
See: Feature record | Search on this feature
Elevated circulating aspartate aminotransferase concentration
MedGen UID:
57497
•Concept ID:
C0151904
•
Finding
The concentration of aspartate aminotransferase (AST) in the blood circulation is above the upper limit of normal.
See: Feature record | Search on this feature
Elevated circulating alanine aminotransferase concentration
MedGen UID:
57740
•Concept ID:
C0151905
•
Finding
An abnormally high concentration in the circulation of alanine aminotransferase (ALT).
See: Feature record | Search on this feature
Elevated circulating alkaline phosphatase concentration
MedGen UID:
727252
•Concept ID:
C1314665
•
Finding
Abnormally increased serum levels of alkaline phosphatase activity.
See: Feature record | Search on this feature
Elevated circulating gamma-aminobutyric acid concentration
MedGen UID:
1643920
•Concept ID:
C4703619
•
Finding
An increase in the level of Gamma-aminobutyric acid (GABA) in the blood circulation.
See: Feature record | Search on this feature
Pruritus
MedGen UID:
19534
•Concept ID:
C0033774
•
Sign or Symptom
Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Clinical Practice Guideline: Sudden Hearing Loss (Update).
Chandrasekhar SS, Tsai Do BS, Schwartz SR, Bontempo LJ, Faucett EA, Finestone SA, Hollingsworth DB, Kelley DM, Kmucha ST, Moonis G, Poling GL, Roberts JK, Stachler RJ, Zeitler DM, Corrigan MD, Nnacheta LC, Satterfield L
Otolaryngol Head Neck Surg 2019 Aug;161(1_suppl):S1-S45. doi: 10.1177/0194599819859885. PMID: 31369359
Hearing Loss in Adults: Differential Diagnosis and Treatment.
Michels TC, Duffy MT, Rogers DJ
Am Fam Physician 2019 Jul 15;100(2):98-108. PMID: 31305044
Newborn hearing screening--a silent revolution.
Morton CC, Nance WE
N Engl J Med 2006 May 18;354(20):2151-64. doi: 10.1056/NEJMra050700. PMID: 16707752

Recent clinical studies

Etiology

Diabetes mellitus and hearing loss.
Deng Y, Chen S, Hu J
Mol Med 2023 Oct 24;29(1):141. doi: 10.1186/s10020-023-00737-z. PMID: 37875793Free PMC Article
Diabetes mellitus and hearing loss: A review.
Samocha-Bonet D, Wu B, Ryugo DK
Ageing Res Rev 2021 Nov;71:101423. Epub 2021 Aug 9 doi: 10.1016/j.arr.2021.101423. PMID: 34384902
Hearing Loss.
Nieman CL, Oh ES
Ann Intern Med 2020 Dec 1;173(11):ITC81-ITC96. doi: 10.7326/AITC202012010. PMID: 33253610
Congenital hearing loss.
Korver AM, Smith RJ, Van Camp G, Schleiss MR, Bitner-Glindzicz MA, Lustig LR, Usami SI, Boudewyns AN
Nat Rev Dis Primers 2017 Jan 12;3:16094. doi: 10.1038/nrdp.2016.94. PMID: 28079113Free PMC Article
Hearing loss: diagnosis and management.
Lasak JM, Allen P, McVay T, Lewis D
Prim Care 2014 Mar;41(1):19-31. Epub 2013 Nov 18 doi: 10.1016/j.pop.2013.10.003. PMID: 24439878

Diagnosis

Hearing Loss in Children: A Review.
Lieu JEC, Kenna M, Anne S, Davidson L
JAMA 2020 Dec 1;324(21):2195-2205. doi: 10.1001/jama.2020.17647. PMID: 33258894
Hearing Loss.
Nieman CL, Oh ES
Ann Intern Med 2020 Dec 1;173(11):ITC81-ITC96. doi: 10.7326/AITC202012010. PMID: 33253610
Hearing Loss in Adults: Differential Diagnosis and Treatment.
Michels TC, Duffy MT, Rogers DJ
Am Fam Physician 2019 Jul 15;100(2):98-108. PMID: 31305044
Congenital hearing loss.
Korver AM, Smith RJ, Van Camp G, Schleiss MR, Bitner-Glindzicz MA, Lustig LR, Usami SI, Boudewyns AN
Nat Rev Dis Primers 2017 Jan 12;3:16094. doi: 10.1038/nrdp.2016.94. PMID: 28079113Free PMC Article
Newborn hearing screening--a silent revolution.
Morton CC, Nance WE
N Engl J Med 2006 May 18;354(20):2151-64. doi: 10.1056/NEJMra050700. PMID: 16707752

Therapy

Odevixibat treatment in progressive familial intrahepatic cholestasis: a randomised, placebo-controlled, phase 3 trial.
Thompson RJ, Arnell H, Artan R, Baumann U, Calvo PL, Czubkowski P, Dalgic B, D'Antiga L, Durmaz Ö, Fischler B, Gonzalès E, Grammatikopoulos T, Gupte G, Hardikar W, Houwen RHJ, Kamath BM, Karpen SJ, Kjems L, Lacaille F, Lachaux A, Lainka E, Mack CL, Mattsson JP, McKiernan P, Özen H, Rajwal SR, Roquelaure B, Shagrani M, Shteyer E, Soufi N, Sturm E, Tessier ME, Verkade HJ, Horn P
Lancet Gastroenterol Hepatol 2022 Sep;7(9):830-842. Epub 2022 Jul 1 doi: 10.1016/S2468-1253(22)00093-0. PMID: 35780807
Hyperbaric Oxygen Therapy for Patients With Sudden Sensorineural Hearing Loss: A Systematic Review and Meta-analysis.
Joshua TG, Ayub A, Wijesinghe P, Nunez DA
JAMA Otolaryngol Head Neck Surg 2022 Jan 1;148(1):5-11. doi: 10.1001/jamaoto.2021.2685. PMID: 34709348Free PMC Article
Noise-Induced Hearing Loss: Updates on Molecular Targets and Potential Interventions.
Mao H, Chen Y
Neural Plast 2021;2021:4784385. Epub 2021 Jul 6 doi: 10.1155/2021/4784385. PMID: 34306060Free PMC Article
Gene therapy for hearing loss.
Omichi R, Shibata SB, Morton CC, Smith RJH
Hum Mol Genet 2019 Oct 1;28(R1):R65-R79. doi: 10.1093/hmg/ddz129. PMID: 31227837Free PMC Article
Corticosteroids for acute bacterial meningitis.
Brouwer MC, McIntyre P, Prasad K, van de Beek D
Cochrane Database Syst Rev 2015 Sep 12;2015(9):CD004405. doi: 10.1002/14651858.CD004405.pub5. PMID: 26362566Free PMC Article

Prognosis

Global, regional, and national prevalence of hearing loss from 1990 to 2019: A trend and health inequality analyses based on the Global Burden of Disease Study 2019.
Jiang CY, Han K, Yang F, Yin SY, Zhang L, Liang BY, Wang TB, Jiang T, Chen YR, Shi TY, Liu YC, Chen SW, Tong BS, Liu YH, Pan HF, Han YX
Ageing Res Rev 2023 Dec;92:102124. Epub 2023 Nov 14 doi: 10.1016/j.arr.2023.102124. PMID: 37972859
Effects of sodium thiosulfate versus observation on development of cisplatin-induced hearing loss in children with cancer (ACCL0431): a multicentre, randomised, controlled, open-label, phase 3 trial.
Freyer DR, Chen L, Krailo MD, Knight K, Villaluna D, Bliss B, Pollock BH, Ramdas J, Lange B, Van Hoff D, VanSoelen ML, Wiernikowski J, Neuwelt EA, Sung L
Lancet Oncol 2017 Jan;18(1):63-74. Epub 2016 Dec 1 doi: 10.1016/S1470-2045(16)30625-8. PMID: 27914822Free PMC Article
Aging and Hearing Health: The Life-course Approach.
Davis A, McMahon CM, Pichora-Fuller KM, Russ S, Lin F, Olusanya BO, Chadha S, Tremblay KL
Gerontologist 2016 Apr;56 Suppl 2(Suppl 2):S256-67. doi: 10.1093/geront/gnw033. PMID: 26994265Free PMC Article
Hearing loss and incident dementia.
Lin FR, Metter EJ, O'Brien RJ, Resnick SM, Zonderman AB, Ferrucci L
Arch Neurol 2011 Feb;68(2):214-20. doi: 10.1001/archneurol.2010.362. PMID: 21320988Free PMC Article
Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families.
Strautnieks SS, Byrne JA, Pawlikowska L, Cebecauerová D, Rayner A, Dutton L, Meier Y, Antoniou A, Stieger B, Arnell H, Ozçay F, Al-Hussaini HF, Bassas AF, Verkade HJ, Fischler B, Németh A, Kotalová R, Shneider BL, Cielecka-Kuszyk J, McClean P, Whitington PF, Sokal E, Jirsa M, Wali SH, Jankowska I, Pawłowska J, Mieli-Vergani G, Knisely AS, Bull LN, Thompson RJ
Gastroenterology 2008 Apr;134(4):1203-14. Epub 2008 Jan 18 doi: 10.1053/j.gastro.2008.01.038. PMID: 18395098

Clinical prediction guides

Clinical phenotype of adult-onset liver disease in patients with variants in ABCB4, ABCB11, and ATP8B1.
Nayagam JS, Foskett P, Strautnieks S, Agarwal K, Miquel R, Joshi D, Thompson RJ
Hepatol Commun 2022 Oct;6(10):2654-2664. Epub 2022 Jul 27 doi: 10.1002/hep4.2051. PMID: 35894240Free PMC Article
Odevixibat treatment in progressive familial intrahepatic cholestasis: a randomised, placebo-controlled, phase 3 trial.
Thompson RJ, Arnell H, Artan R, Baumann U, Calvo PL, Czubkowski P, Dalgic B, D'Antiga L, Durmaz Ö, Fischler B, Gonzalès E, Grammatikopoulos T, Gupte G, Hardikar W, Houwen RHJ, Kamath BM, Karpen SJ, Kjems L, Lacaille F, Lachaux A, Lainka E, Mack CL, Mattsson JP, McKiernan P, Özen H, Rajwal SR, Roquelaure B, Shagrani M, Shteyer E, Soufi N, Sturm E, Tessier ME, Verkade HJ, Horn P
Lancet Gastroenterol Hepatol 2022 Sep;7(9):830-842. Epub 2022 Jul 1 doi: 10.1016/S2468-1253(22)00093-0. PMID: 35780807
Hearing Loss in Adults: Differential Diagnosis and Treatment.
Michels TC, Duffy MT, Rogers DJ
Am Fam Physician 2019 Jul 15;100(2):98-108. PMID: 31305044
Sudden sensorineural hearing loss: a review of diagnosis, treatment, and prognosis.
Kuhn M, Heman-Ackah SE, Shaikh JA, Roehm PC
Trends Amplif 2011 Sep;15(3):91-105. Epub 2011 May 22 doi: 10.1177/1084713811408349. PMID: 21606048Free PMC Article
Predicting binaural interference.
Jerger J
J Am Acad Audiol 2011 Mar;22(3):128. doi: 10.3766/jaaa.22.3.1. PMID: 21545765

Recent systematic reviews

Migraine associated with tinnitus and hearing loss in adults: a systematic review.
Campello CP, Lemos CAA, Andrade WTL, Melo LPF, Nunes GRS, Cavalcanti HG
Int J Audiol 2024 Jan;63(1):1-7. Epub 2022 Dec 2 doi: 10.1080/14992027.2022.2151943. PMID: 36459425
Association of Hearing Aids and Cochlear Implants With Cognitive Decline and Dementia: A Systematic Review and Meta-analysis.
Yeo BSY, Song HJJMD, Toh EMS, Ng LS, Ho CSH, Ho R, Merchant RA, Tan BKJ, Loh WS
JAMA Neurol 2023 Feb 1;80(2):134-141. doi: 10.1001/jamaneurol.2022.4427. PMID: 36469314Free PMC Article
Hyperbaric Oxygen Therapy for Patients With Sudden Sensorineural Hearing Loss: A Systematic Review and Meta-analysis.
Joshua TG, Ayub A, Wijesinghe P, Nunez DA
JAMA Otolaryngol Head Neck Surg 2022 Jan 1;148(1):5-11. doi: 10.1001/jamaoto.2021.2685. PMID: 34709348Free PMC Article
Ear wax.
Wright T
BMJ Clin Evid 2015 Mar 4;2015 PMID: 25738938Free PMC Article
Burden of disease caused by otitis media: systematic review and global estimates.
Monasta L, Ronfani L, Marchetti F, Montico M, Vecchi Brumatti L, Bavcar A, Grasso D, Barbiero C, Tamburlini G
PLoS One 2012;7(4):e36226. Epub 2012 Apr 30 doi: 10.1371/journal.pone.0036226. PMID: 22558393Free PMC Article

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