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Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7(PFBMFT7)

MedGen UID:
1841121
Concept ID:
C5830485
Disease or Syndrome
Synonym: PFBMFT7
 
Gene (location): NAF1 (4q32.2)
 
Monarch Initiative: MONDO:0957261
OMIM®: 620365

Definition

Telomere-related pulmonary fibrosis and/or bone marrow failure syndrome-7 (PFBMFT7) is an autosomal dominant disorder characterized by variable manifestations associated with shortened telomeres. Features can include pulmonary fibrosis, emphysema, anemia, lymphopenia, liver involvement with portal hypertension and hepatopulmonary syndrome, premature graying of the hair, nail dystrophy, and predisposition to squamous cell cancers or myelodysplasia (Stanley et al., 2016). For a discussion of genetic heterogeneity of telomere-related pulmonary fibrosis and/or bone marrow failure syndromes, see PFBMFT1 (614742). [from OMIM]

Clinical features

From HPO
Myelodysplasia
MedGen UID:
10231
Concept ID:
C0026985
Congenital Abnormality
Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia.
Squamous cell carcinoma of the skin
MedGen UID:
107512
Concept ID:
C0553723
Neoplastic Process
Squamous cell carcinoma of the skin is a malignant tumor of squamous epithelium.
Cryptorchidism
MedGen UID:
8192
Concept ID:
C0010417
Congenital Abnormality
Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).
Portal hypertension
MedGen UID:
9375
Concept ID:
C0020541
Disease or Syndrome
Increased pressure in the portal vein.
Anemia
MedGen UID:
1526
Concept ID:
C0002871
Disease or Syndrome
A reduction in erythrocytes volume or hemoglobin concentration.
Thrombocytopenia
MedGen UID:
52737
Concept ID:
C0040034
Disease or Syndrome
A reduction in the number of circulating thrombocytes.
Osteopenia
MedGen UID:
18222
Concept ID:
C0029453
Disease or Syndrome
Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.
Emphysema
MedGen UID:
18764
Concept ID:
C0034067
Disease or Syndrome
A subcategory of chronic obstructive pulmonary disease (COPD). It occurs in people who smoke and suffer from chronic bronchitis. It is characterized by inflation of the alveoli, alveolar wall damage, and reduction in the number of alveoli, resulting in difficulty breathing.
Pulmonary fibrosis
MedGen UID:
11028
Concept ID:
C0034069
Disease or Syndrome
Replacement of normal lung tissues by fibroblasts and collagen.
Lymphopenia
MedGen UID:
7418
Concept ID:
C0024312
Disease or Syndrome
A reduced number of lymphocytes in the blood.
Diabetes mellitus type 1
MedGen UID:
41522
Concept ID:
C0011854
Disease or Syndrome
Type 1 diabetes mellitus (T1D), also designated insulin-dependent diabetes mellitus (IDDM), is a disorder of glucose homeostasis characterized by susceptibility to ketoacidosis in the absence of insulin therapy. It is a genetically heterogeneous autoimmune disease affecting about 0.3% of Caucasian populations (Todd, 1990). Genetic studies of T1D have focused on the identification of loci associated with increased susceptibility to this multifactorial phenotype. The classic phenotype of diabetes mellitus is polydipsia, polyphagia, and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels.
Nail dystrophy
MedGen UID:
66368
Concept ID:
C0221260
Disease or Syndrome
Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.
Premature graying of hair
MedGen UID:
75524
Concept ID:
C0263498
Finding
Development of gray hair at a younger than normal age.

Professional guidelines

PubMed

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
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Raghu G, Remy-Jardin M, Myers JL, Richeldi L, Ryerson CJ, Lederer DJ, Behr J, Cottin V, Danoff SK, Morell F, Flaherty KR, Wells A, Martinez FJ, Azuma A, Bice TJ, Bouros D, Brown KK, Collard HR, Duggal A, Galvin L, Inoue Y, Jenkins RG, Johkoh T, Kazerooni EA, Kitaichi M, Knight SL, Mansour G, Nicholson AG, Pipavath SNJ, Buendía-Roldán I, Selman M, Travis WD, Walsh S, Wilson KC; American Thoracic Society, European Respiratory Society, Japanese Respiratory Society, and Latin American Thoracic Society
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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

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
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
Rumende CM, Susanto EC, Sitorus TP
Acta Med Indones 2021 Apr;53(2):233-241. PMID: 34251354
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
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

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
Chanda D, Otoupalova E, Smith SR, Volckaert T, De Langhe SP, Thannickal VJ
Mol Aspects Med 2019 Feb;65:56-69. Epub 2018 Aug 23 doi: 10.1016/j.mam.2018.08.004. PMID: 30130563Free PMC Article
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
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
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

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
Corte TJ, Lancaster L, Swigris JJ, Maher TM, Goldin JG, Palmer SM, Suda T, Ogura T, Minnich A, Zhan X, Tirucherai GS, Elpers B, Xiao H, Watanabe H, Smith RA, Charles ED, Fischer A
BMJ Open Respir Res 2021 Dec;8(1) doi: 10.1136/bmjresp-2021-001026. PMID: 34969771Free PMC Article
Finnerty JP, Ponnuswamy A, Dutta P, Abdelaziz A, Kamil H
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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
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

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
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
Meyer KC
Expert Rev Respir Med 2017 May;11(5):343-359. Epub 2017 Apr 10 doi: 10.1080/17476348.2017.1312346. PMID: 28345383
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
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

Cottin V, Hirani NA, Hotchkin DL, Nambiar AM, Ogura T, Otaola M, Skowasch D, Park JS, Poonyagariyagorn HK, Wuyts W, Wells AU
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Recent systematic reviews

Zisi D, Chryssanthopoulos C, Nanas S, Philippou A
Heart Lung 2022 May-Jun;53:89-98. Epub 2022 Feb 27 doi: 10.1016/j.hrtlng.2022.02.006. PMID: 35235877
Pitre T, Mah J, Helmeczi W, Khalid MF, Cui S, Zhang M, Husnudinov R, Su J, Banfield L, Guy B, Coyne J, Scallan C, Kolb MR, Jones A, Zeraatkar D
Thorax 2022 Dec;77(12):1243-1250. Epub 2022 Feb 10 doi: 10.1136/thoraxjnl-2021-217976. PMID: 35145039
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
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
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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