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Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9(PFBMFT9)

MedGen UID:
1841196
•Concept ID:
C5830560
•
Disease or Syndrome
Synonym: PFBMFT9
 
Gene (location): NOP10 (15q14)
 
Monarch Initiative: MONDO:0957294
OMIM®: 620400

Definition

Telomere-related pulmonary fibrosis and/or bone marrow failure syndrome-9 (PFBMFT9) is an autosomal dominant short telomere syndrome characterized by the development of pulmonary fibrosis or hematologic abnormalities, including leukopenia and leukemia, in adulthood. Liver disease may also be present. There is incomplete penetrance and evidence of genetic anticipation. Affected individuals have shortened telomeres, but do not show mucocutaneous manifestations (Kannengiesser et al., 2020). For a discussion of genetic heterogeneity of telomere-related pulmonary fibrosis and/or bone marrow failure, see PFBMFT1 (614742). [from OMIM]

Clinical features

From HPO
Leukemia
MedGen UID:
9725
•Concept ID:
C0023418
•
Neoplastic Process
A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes.
See: Feature record | Search on this feature
Pulmonary fibrosis
MedGen UID:
11028
•Concept ID:
C0034069
•
Disease or Syndrome
Replacement of normal lung tissues by fibroblasts and collagen.
See: Feature record | Search on this feature
Leukopenia
MedGen UID:
6073
•Concept ID:
C0023530
•
Disease or Syndrome
An abnormal decreased number of leukocytes in the blood.
See: Feature record | Search on this feature
Short telomere length
MedGen UID:
1627435
•Concept ID:
C4531138
•
Anatomical Abnormality
An abnormal reduction in telomere length. Telomeres are non-coding, repetitive sequences of DNA at the ends of the chromosomes of eukaryotic cells which become shorter as cells divide, and when telomere attrition reaches its limit, cell proliferation arrest, senescence, and apoptosis can occur.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Progressive pulmonary fibrosis: an expert group consensus statement.
Rajan SK, Cottin V, Dhar R, Danoff S, Flaherty KR, Brown KK, Mohan A, Renzoni E, Mohan M, Udwadia Z, Shenoy P, Currow D, Devraj A, Jankharia B, Kulshrestha R, Jones S, Ravaglia C, Quadrelli S, Iyer R, Dhooria S, Kolb M, Wells AU
Eur Respir J 2023 Mar;61(3) Epub 2023 Mar 30 doi: 10.1183/13993003.03187-2021. PMID: 36517177Free PMC Article
Idiopathic Pulmonary Fibrosis (an Update) and Progressive Pulmonary Fibrosis in Adults: An Official ATS/ERS/JRS/ALAT Clinical Practice Guideline.
Raghu G, Remy-Jardin M, Richeldi L, Thomson CC, Inoue Y, Johkoh T, Kreuter M, Lynch DA, Maher TM, Martinez FJ, Molina-Molina M, Myers JL, Nicholson AG, Ryerson CJ, Strek ME, Troy LK, Wijsenbeek M, Mammen MJ, Hossain T, Bissell BD, Herman DD, Hon SM, Kheir F, Khor YH, Macrea M, Antoniou KM, Bouros D, Buendia-Roldan I, Caro F, Crestani B, Ho L, Morisset J, Olson AL, Podolanczuk A, Poletti V, Selman M, Ewing T, Jones S, Knight SL, Ghazipura M, Wilson KC
Am J Respir Crit Care Med 2022 May 1;205(9):e18-e47. doi: 10.1164/rccm.202202-0399ST. PMID: 35486072Free PMC Article
Pulmonary arterial hypertension: pathogenesis and clinical management.
Thenappan T, Ormiston ML, Ryan JJ, Archer SL
BMJ 2018 Mar 14;360:j5492. doi: 10.1136/bmj.j5492. PMID: 29540357Free PMC Article

Recent clinical studies

Etiology

Idiopathic Pulmonary Fibrosis and Progressive Pulmonary Fibrosis.
Strykowski R, Adegunsoye A
Immunol Allergy Clin North Am 2023 May;43(2):209-228. Epub 2023 Mar 3 doi: 10.1016/j.iac.2023.01.010. PMID: 37055085
Progressive pulmonary fibrosis: an expert group consensus statement.
Rajan SK, Cottin V, Dhar R, Danoff S, Flaherty KR, Brown KK, Mohan A, Renzoni E, Mohan M, Udwadia Z, Shenoy P, Currow D, Devraj A, Jankharia B, Kulshrestha R, Jones S, Ravaglia C, Quadrelli S, Iyer R, Dhooria S, Kolb M, Wells AU
Eur Respir J 2023 Mar;61(3) Epub 2023 Mar 30 doi: 10.1183/13993003.03187-2021. PMID: 36517177Free PMC Article
Presentation, diagnosis and clinical course of the spectrum of progressive-fibrosing interstitial lung diseases.
Cottin V, Hirani NA, Hotchkin DL, Nambiar AM, Ogura T, Otaola M, Skowasch D, Park JS, Poonyagariyagorn HK, Wuyts W, Wells AU
Eur Respir Rev 2018 Dec 31;27(150) Epub 2018 Dec 21 doi: 10.1183/16000617.0076-2018. PMID: 30578335Free PMC Article
Idiopathic pulmonary fibrosis: Epithelial-mesenchymal interactions and emerging therapeutic targets.
Hewlett JC, Kropski JA, Blackwell TS
Matrix Biol 2018 Oct;71-72:112-127. Epub 2018 Apr 3 doi: 10.1016/j.matbio.2018.03.021. PMID: 29625182Free PMC Article
Pulmonary fibrosis, part I: epidemiology, pathogenesis, and diagnosis.
Meyer KC
Expert Rev Respir Med 2017 May;11(5):343-359. Epub 2017 Apr 10 doi: 10.1080/17476348.2017.1312346. PMID: 28345383

Diagnosis

Pulmonary fibrosis: from pathogenesis to clinical decision-making.
Koudstaal T, Funke-Chambour M, Kreuter M, Molyneaux PL, Wijsenbeek MS
Trends Mol Med 2023 Dec;29(12):1076-1087. Epub 2023 Sep 14 doi: 10.1016/j.molmed.2023.08.010. PMID: 37716906
Progressive pulmonary fibrosis: an expert group consensus statement.
Rajan SK, Cottin V, Dhar R, Danoff S, Flaherty KR, Brown KK, Mohan A, Renzoni E, Mohan M, Udwadia Z, Shenoy P, Currow D, Devraj A, Jankharia B, Kulshrestha R, Jones S, Ravaglia C, Quadrelli S, Iyer R, Dhooria S, Kolb M, Wells AU
Eur Respir J 2023 Mar;61(3) Epub 2023 Mar 30 doi: 10.1183/13993003.03187-2021. PMID: 36517177Free PMC Article
Idiopathic pulmonary fibrosis.
Martinez FJ, Collard HR, Pardo A, Raghu G, Richeldi L, Selman M, Swigris JJ, Taniguchi H, Wells AU
Nat Rev Dis Primers 2017 Oct 20;3:17074. doi: 10.1038/nrdp.2017.74. PMID: 29052582
Idiopathic pulmonary fibrosis.
Richeldi L, Collard HR, Jones MG
Lancet 2017 May 13;389(10082):1941-1952. Epub 2017 Mar 30 doi: 10.1016/S0140-6736(17)30866-8. PMID: 28365056
Pulmonary fibrosis, part I: epidemiology, pathogenesis, and diagnosis.
Meyer KC
Expert Rev Respir Med 2017 May;11(5):343-359. Epub 2017 Apr 10 doi: 10.1080/17476348.2017.1312346. PMID: 28345383

Therapy

Idiopathic pulmonary fibrosis.
Koudstaal T, Wijsenbeek MS
Presse Med 2023 Sep;52(3):104166. Epub 2023 May 6 doi: 10.1016/j.lpm.2023.104166. PMID: 37156412
Idiopathic pulmonary fibrosis: Current and future treatment.
Glass DS, Grossfeld D, Renna HA, Agarwala P, Spiegler P, DeLeon J, Reiss AB
Clin Respir J 2022 Feb;16(2):84-96. Epub 2022 Jan 10 doi: 10.1111/crj.13466. PMID: 35001525Free PMC Article
Efficacy of antifibrotic drugs, nintedanib and pirfenidone, in treatment of progressive pulmonary fibrosis in both idiopathic pulmonary fibrosis (IPF) and non-IPF: a systematic review and meta-analysis.
Finnerty JP, Ponnuswamy A, Dutta P, Abdelaziz A, Kamil H
BMC Pulm Med 2021 Dec 11;21(1):411. doi: 10.1186/s12890-021-01783-1. PMID: 34895203Free PMC Article
Inflammation and immunity in IPF pathogenesis and treatment.
Heukels P, Moor CC, von der Thüsen JH, Wijsenbeek MS, Kool M
Respir Med 2019 Feb;147:79-91. Epub 2019 Jan 9 doi: 10.1016/j.rmed.2018.12.015. PMID: 30704705
The Bleomycin Model of Pulmonary Fibrosis.
Liu T, De Los Santos FG, Phan SH
Methods Mol Biol 2017;1627:27-42. doi: 10.1007/978-1-4939-7113-8_2. PMID: 28836192

Prognosis

Incidence and prevalence of interstitial lung diseases worldwide: a systematic literature review.
Shah Gupta R, Koteci A, Morgan A, George PM, Quint JK
BMJ Open Respir Res 2023 Jun;10(1) doi: 10.1136/bmjresp-2022-001291. PMID: 37308252Free PMC Article
Efficacy of antifibrotic drugs, nintedanib and pirfenidone, in treatment of progressive pulmonary fibrosis in both idiopathic pulmonary fibrosis (IPF) and non-IPF: a systematic review and meta-analysis.
Finnerty JP, Ponnuswamy A, Dutta P, Abdelaziz A, Kamil H
BMC Pulm Med 2021 Dec 11;21(1):411. doi: 10.1186/s12890-021-01783-1. PMID: 34895203Free PMC Article
Global incidence and prevalence of idiopathic pulmonary fibrosis.
Maher TM, Bendstrup E, Dron L, Langley J, Smith G, Khalid JM, Patel H, Kreuter M
Respir Res 2021 Jul 7;22(1):197. doi: 10.1186/s12931-021-01791-z. PMID: 34233665Free PMC Article
Global incidence and mortality of idiopathic pulmonary fibrosis: a systematic review.
Hutchinson J, Fogarty A, Hubbard R, McKeever T
Eur Respir J 2015 Sep;46(3):795-806. Epub 2015 May 14 doi: 10.1183/09031936.00185114. PMID: 25976683
Clinical course and prediction of survival in idiopathic pulmonary fibrosis.
Ley B, Collard HR, King TE Jr
Am J Respir Crit Care Med 2011 Feb 15;183(4):431-40. Epub 2010 Oct 8 doi: 10.1164/rccm.201006-0894CI. PMID: 20935110

Clinical prediction guides

Presentation, diagnosis and clinical course of the spectrum of progressive-fibrosing interstitial lung diseases.
Cottin V, Hirani NA, Hotchkin DL, Nambiar AM, Ogura T, Otaola M, Skowasch D, Park JS, Poonyagariyagorn HK, Wuyts W, Wells AU
Eur Respir Rev 2018 Dec 31;27(150) Epub 2018 Dec 21 doi: 10.1183/16000617.0076-2018. PMID: 30578335Free PMC Article
Idiopathic pulmonary fibrosis: current challenges and future perspectives.
Richeldi L
Eur Respir Rev 2013 Jun 1;22(128):103-5. doi: 10.1183/09059180.00001413. PMID: 23728863Free PMC Article
A multidimensional index and staging system for idiopathic pulmonary fibrosis.
Ley B, Ryerson CJ, Vittinghoff E, Ryu JH, Tomassetti S, Lee JS, Poletti V, Buccioli M, Elicker BM, Jones KD, King TE Jr, Collard HR
Ann Intern Med 2012 May 15;156(10):684-91. doi: 10.7326/0003-4819-156-10-201205150-00004. PMID: 22586007
Pulmonary fibrosis.
Zisman DA, Keane MP, Belperio JA, Strieter RM, Lynch JP 3rd
Methods Mol Med 2005;117:3-44. doi: 10.1385/1-59259-940-0:003. PMID: 16130230Free PMC Article
Mechanisms of pulmonary fibrosis.
Thannickal VJ, Toews GB, White ES, Lynch JP 3rd, Martinez FJ
Annu Rev Med 2004;55:395-417. doi: 10.1146/annurev.med.55.091902.103810. PMID: 14746528

Recent systematic reviews

Incidence and prevalence of interstitial lung diseases worldwide: a systematic literature review.
Shah Gupta R, Koteci A, Morgan A, George PM, Quint JK
BMJ Open Respir Res 2023 Jun;10(1) doi: 10.1136/bmjresp-2022-001291. PMID: 37308252Free PMC Article
Association between genetically determined telomere length and health-related outcomes: A systematic review and meta-analysis of Mendelian randomization studies.
Chen B, Yan Y, Wang H, Xu J
Aging Cell 2023 Jul;22(7):e13874. Epub 2023 May 26 doi: 10.1111/acel.13874. PMID: 37232505Free PMC Article
Efficacy of antifibrotic drugs, nintedanib and pirfenidone, in treatment of progressive pulmonary fibrosis in both idiopathic pulmonary fibrosis (IPF) and non-IPF: a systematic review and meta-analysis.
Finnerty JP, Ponnuswamy A, Dutta P, Abdelaziz A, Kamil H
BMC Pulm Med 2021 Dec 11;21(1):411. doi: 10.1186/s12890-021-01783-1. PMID: 34895203Free PMC Article
Pulmonary rehabilitation for interstitial lung disease.
Dowman L, Hill CJ, May A, Holland AE
Cochrane Database Syst Rev 2021 Feb 1;2(2):CD006322. doi: 10.1002/14651858.CD006322.pub4. PMID: 34559419Free PMC Article
Global incidence and mortality of idiopathic pulmonary fibrosis: a systematic review.
Hutchinson J, Fogarty A, Hubbard R, McKeever T
Eur Respir J 2015 Sep;46(3):795-806. Epub 2015 May 14 doi: 10.1183/09031936.00185114. PMID: 25976683

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