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BRONCHIECTASIS AND NASAL POLYPOSIS(BENP)

MedGen UID:
1053608
Concept ID:
CN378652
Disease or Syndrome
Synonym: BENP
 
Gene (location): WFDC2 (20q13.12)
 
OMIM®: 620984

Definition

Bronchiectasis and nasal polyposis (BENP) is an autosomal recessive airway disease characterized by chronic infection of the airways resulting in rhinosinusitis and pronounced nasal polyposis (Dougherty et al., 2024). [from OMIM]

Professional guidelines

PubMed

Ewen R, Pink I, Sutharsan S, Aries SP, Grünewaldt A, Shoemark A, Sommerwerck U, Staar BO, Wege S, Mertsch P, Rademacher J, Ringshausen FC; PROGNOSIS Study Group
Chest 2024 Nov;166(5):938-950. Epub 2024 Jun 15 doi: 10.1016/j.chest.2024.05.023. PMID: 38880279Free PMC Article
Kennedy DW
Int Forum Allergy Rhinol 2019 Dec;9(12):1399-1400. doi: 10.1002/alr.22496. PMID: 31816200
Porsbjerg C, Menzies-Gow A
Respirology 2017 May;22(4):651-661. Epub 2017 Mar 22 doi: 10.1111/resp.13026. PMID: 28328160

Recent clinical studies

Etiology

Fan R, Qian H, Xu JY, Wang JY, Su Y, Yang JW, Jiang F, Cao WJ, Xu JF
Respir Res 2024 Nov 20;25(1):413. doi: 10.1186/s12931-024-03034-3. PMID: 39567991Free PMC Article
Lemmetyinen RE, Toppila-Salmi SK, But A, Renkonen R, Pekkanen J, Haukka J, Karjalainen J
BMJ Open Respir Res 2024 Mar 14;11(1) doi: 10.1136/bmjresp-2023-001959. PMID: 38485249Free PMC Article
Polverino E, Dimakou K, Traversi L, Bossios A, Haworth CS, Loebinger MR, De Soyza A, Vendrell M, Burgel PR, Mertsch P, McDonnell M, Škrgat S, Maiz Carro L, Sibila O, van der Eerden M, Kauppi P, Hill AT, Wilson R, Milenkovic B, Menendez R, Murris M, Digalaki T, Crichton ML, Borecki S, Obradovic D, Nowinski A, Amorim A, Torres A, Lorent N, Welte T, Blasi F, Van Braeckel E, Altenburg J, Shoemark A, Shteinberg M, Boersma W, Elborn JS, Aliberti S, Ringshausen FC, Chalmers JD, Goeminne PC; EMBARC registry investigators
J Allergy Clin Immunol 2024 Jun;153(6):1553-1562. Epub 2024 Feb 23 doi: 10.1016/j.jaci.2024.01.027. PMID: 38401857
Brar T, Marino MJ, Lal D
Otolaryngol Clin North Am 2023 Feb;56(1):23-38. doi: 10.1016/j.otc.2022.09.002. PMID: 36410991
Rogliani P, Sforza M, Calzetta L
Curr Opin Pulm Med 2020 Jan;26(1):47-55. doi: 10.1097/MCP.0000000000000640. PMID: 31644439

Diagnosis

Dougherty GW, Ostrowski LE, Nöthe-Menchen T, Raidt J, Schramm A, Olbrich H, Yin W, Sears PR, Dang H, Smith AJ, Beule AG, Hjeij R, Rutjes N, Haarman EG, Maas SM, Ferkol TW, Noone PG, Olivier KN, Bracht DC, Barbry P, Zaragosi LE, Fierville M, Kliesch S, Wohlgemuth K, König J, George S, Loges NT, Ceppe A, Markovetz MR, Luo H, Guo T, Rizk H, Eldesoky T, Dahlke K, Boldt K, Ueffing M, Hill DB, Pang YP, Knowles MR, Zariwala MA, Omran H
Am J Respir Crit Care Med 2024 Jul 1;210(1):63-76. doi: 10.1164/rccm.202308-1370OC. PMID: 38626355Free PMC Article
Polverino E, Dimakou K, Traversi L, Bossios A, Haworth CS, Loebinger MR, De Soyza A, Vendrell M, Burgel PR, Mertsch P, McDonnell M, Škrgat S, Maiz Carro L, Sibila O, van der Eerden M, Kauppi P, Hill AT, Wilson R, Milenkovic B, Menendez R, Murris M, Digalaki T, Crichton ML, Borecki S, Obradovic D, Nowinski A, Amorim A, Torres A, Lorent N, Welte T, Blasi F, Van Braeckel E, Altenburg J, Shoemark A, Shteinberg M, Boersma W, Elborn JS, Aliberti S, Ringshausen FC, Chalmers JD, Goeminne PC; EMBARC registry investigators
J Allergy Clin Immunol 2024 Jun;153(6):1553-1562. Epub 2024 Feb 23 doi: 10.1016/j.jaci.2024.01.027. PMID: 38401857
Matucci A, Micheletto C, Vultaggio A
J Investig Allergol Clin Immunol 2023 Jun 15;33(3):168-178. Epub 2022 Sep 5 doi: 10.18176/jiaci.0856. PMID: 36059229
Piatti G, De Santi MM, Torretta S, Pignataro L, Soi D, Ambrosetti U
Ann Otol Rhinol Laryngol 2017 Apr;126(4):322-327. Epub 2017 Feb 12 doi: 10.1177/0003489417691299. PMID: 28290230
Aitken ML, Fiel SB
Dis Mon 1993 Jan;39(1):1-52. doi: 10.1016/0011-5029(93)90028-2. PMID: 8422840

Therapy

Fan R, Qian H, Xu JY, Wang JY, Su Y, Yang JW, Jiang F, Cao WJ, Xu JF
Respir Res 2024 Nov 20;25(1):413. doi: 10.1186/s12931-024-03034-3. PMID: 39567991Free PMC Article
Polverino E, Dimakou K, Traversi L, Bossios A, Haworth CS, Loebinger MR, De Soyza A, Vendrell M, Burgel PR, Mertsch P, McDonnell M, Škrgat S, Maiz Carro L, Sibila O, van der Eerden M, Kauppi P, Hill AT, Wilson R, Milenkovic B, Menendez R, Murris M, Digalaki T, Crichton ML, Borecki S, Obradovic D, Nowinski A, Amorim A, Torres A, Lorent N, Welte T, Blasi F, Van Braeckel E, Altenburg J, Shoemark A, Shteinberg M, Boersma W, Elborn JS, Aliberti S, Ringshausen FC, Chalmers JD, Goeminne PC; EMBARC registry investigators
J Allergy Clin Immunol 2024 Jun;153(6):1553-1562. Epub 2024 Feb 23 doi: 10.1016/j.jaci.2024.01.027. PMID: 38401857
Scelo G, Torres-Duque CA, Maspero J, Tran TN, Murray R, Martin N, Menzies-Gow AN, Hew M, Peters MJ, Gibson PG, Christoff GC, Popov TA, Côté A, Bergeron C, Dorscheid D, FitzGerald JM, Chapman KR, Boulet LP, Bhutani M, Sadatsafavi M, Jiménez-Maldonado L, Duran-Silva M, Rodriguez B, Celis-Preciado CA, Cano-Rosales DJ, Solarte I, Fernandez-Sanchez MJ, Parada-Tovar P, von Bülow A, Bjerrum AS, Ulrik CS, Assing KD, Rasmussen LM, Hansen S, Altraja A, Bourdin A, Taille C, Charriot J, Roche N, Papaioannou AI, Kostikas K, Papadopoulos NG, Salvi S, Long D, Mitchell PD, Costello R, Sirena C, Cardini C, Heffler E, Puggioni F, Canonica GW, Guida G, Iwanaga T, Al-Ahmad M, Linnemann DL, Garcia U, Kuna P, Fonseca JA, Al-Lehebi R, Koh MS, Rhee CK, Cosio BG, de Llano LP, Perng Steve DW, Huang EW, Wang HC, Tsai MJ, Mahboub B, Salameh LIJ, Jackson D, Busby J, Heaney LG, Pfeffer P, Goddard AG, Wang E, Hoyte F, Wechsler ME, Chapman N, Katial R, Carter V, Bulathsinhala L, Eleangovan N, Ariti C, Lyu J, Price DB, Porsbjerg C
Ann Allergy Asthma Immunol 2024 Jan;132(1):42-53. Epub 2023 Aug 26 doi: 10.1016/j.anai.2023.08.021. PMID: 37640263
Matucci A, Micheletto C, Vultaggio A
J Investig Allergol Clin Immunol 2023 Jun 15;33(3):168-178. Epub 2022 Sep 5 doi: 10.18176/jiaci.0856. PMID: 36059229
Mullol J, Azar A, Buchheit KM, Hopkins C, Bernstein JA
J Allergy Clin Immunol Pract 2022 Jun;10(6):1434-1453.e9. Epub 2022 Mar 16 doi: 10.1016/j.jaip.2022.03.002. PMID: 35306180

Prognosis

Ewen R, Pink I, Sutharsan S, Aries SP, Grünewaldt A, Shoemark A, Sommerwerck U, Staar BO, Wege S, Mertsch P, Rademacher J, Ringshausen FC; PROGNOSIS Study Group
Chest 2024 Nov;166(5):938-950. Epub 2024 Jun 15 doi: 10.1016/j.chest.2024.05.023. PMID: 38880279Free PMC Article
Carpagnano GE, Portacci A, Nolasco S, Detoraki A, Vatrella A, Calabrese C, Pelaia C, Montagnolo F, Scioscia G, Valenti G, D'Amato M, Caiaffa MF, Triggiani M, Scichilone N, Crimi C
Front Immunol 2024;15:1343362. Epub 2024 Jan 23 doi: 10.3389/fimmu.2024.1343362. PMID: 38327518Free PMC Article
Domínguez-Ortega J, Luna-Porta JA, Olaguibel JM, Barranco P, Arismendi E, Barroso B, Betancor D, Bobolea I, Caballero ML, Cárdaba B, Cruz MJ, Curto E, González-Barcala FJ, Losantos-García I, Martínez-Rivera C, Mendez-Brea P, Mullol J, Muñoz X, Picado C, Plaza V, Del Pozo V, Rial MJ, Sastre J, Soto L, Valero A, Valverde-Monge M, Quirce S
J Investig Allergol Clin Immunol 2023 Jul 27;33(4):281-288. Epub 2002 May 3 doi: 10.18176/jiaci.0816. PMID: 35503227
Sheng H, Yao X, Wang X, Wang Y, Liu X, Zhang L
BMC Pulm Med 2021 Jul 5;21(1):211. doi: 10.1186/s12890-021-01575-7. PMID: 34225679Free PMC Article
Aitken ML, Fiel SB
Dis Mon 1993 Jan;39(1):1-52. doi: 10.1016/0011-5029(93)90028-2. PMID: 8422840

Clinical prediction guides

Fan R, Qian H, Xu JY, Wang JY, Su Y, Yang JW, Jiang F, Cao WJ, Xu JF
Respir Res 2024 Nov 20;25(1):413. doi: 10.1186/s12931-024-03034-3. PMID: 39567991Free PMC Article
Ewen R, Pink I, Sutharsan S, Aries SP, Grünewaldt A, Shoemark A, Sommerwerck U, Staar BO, Wege S, Mertsch P, Rademacher J, Ringshausen FC; PROGNOSIS Study Group
Chest 2024 Nov;166(5):938-950. Epub 2024 Jun 15 doi: 10.1016/j.chest.2024.05.023. PMID: 38880279Free PMC Article
Polverino E, Dimakou K, Traversi L, Bossios A, Haworth CS, Loebinger MR, De Soyza A, Vendrell M, Burgel PR, Mertsch P, McDonnell M, Škrgat S, Maiz Carro L, Sibila O, van der Eerden M, Kauppi P, Hill AT, Wilson R, Milenkovic B, Menendez R, Murris M, Digalaki T, Crichton ML, Borecki S, Obradovic D, Nowinski A, Amorim A, Torres A, Lorent N, Welte T, Blasi F, Van Braeckel E, Altenburg J, Shoemark A, Shteinberg M, Boersma W, Elborn JS, Aliberti S, Ringshausen FC, Chalmers JD, Goeminne PC; EMBARC registry investigators
J Allergy Clin Immunol 2024 Jun;153(6):1553-1562. Epub 2024 Feb 23 doi: 10.1016/j.jaci.2024.01.027. PMID: 38401857
Carpagnano GE, Portacci A, Nolasco S, Detoraki A, Vatrella A, Calabrese C, Pelaia C, Montagnolo F, Scioscia G, Valenti G, D'Amato M, Caiaffa MF, Triggiani M, Scichilone N, Crimi C
Front Immunol 2024;15:1343362. Epub 2024 Jan 23 doi: 10.3389/fimmu.2024.1343362. PMID: 38327518Free PMC Article
Guan WJ, Oscullo G, He MZ, Xu DY, Gómez-Olivas JD, Martinez-Garcia MA
J Allergy Clin Immunol Pract 2023 Apr;11(4):1089-1099. Epub 2022 Oct 30 doi: 10.1016/j.jaip.2022.10.027. PMID: 36323380

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