Fibrosis pulmonar familiar en el síndrome de Hermansky-Pudlak
DOI:
https://doi.org/10.18004/mem.iics/1812-9528/2022.020.03.142Palabras clave:
Fibrosis pulmonar familiar, síndrome de Hermansky-Pudlak, neumonía intersticial idiopática, albinismo oculo-cutáneoResumen
La fibrosis pulmonar familiar en el contexto del síndrome de Hermansky-Pudlak es una entidad nosológica poco frecuente y cuyo único enfoque terapéutico definitivo es el trasplante pulmonar en los estadios avanzados. Describimos algunos aspectos clínicos diagnósticos y terapéuticos que configuran el manejo de las enfermedades huérfanas en países como el nuestro.
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Hortense AB, Santos MK, Wada D, Fabro AT, Lima M, Rodrigues S, et al. Familial pulmonary fibrosis: a heterogeneous spectrum of presentations. J Bras Pneumol.2019; 45(5): e20180079. https://doi.org/10.1590/1806-3713/e20180079
Aburto M, Aguirre U, Iciar-Arrizubieta M, Pérez Izquierdo J, Bronte O. Checking Siblings of Patients with Idiopathic Pulmonary Fibrosis as a Scheme for Early Disease Detection. Ann Am Thorac Soc 2021; 18 (1); 172-174. doi: https://doi.org/10.1513/AnnalsATS.202002-111RL
García-Sancho C, Buendía-Roldán I, Fernández-Plata MR, Navarro C, Pérez-Padilla R. Familial pulmonary fibrosis is the strongest risk factor for idiopathic pulmonary fibrosis. Respir Med.2011; 105(12): 1902-7. doi: https://doi.org/10.1016/j.rmed.2011.08.022
van Batenburg AA, van Oosterhout MFM, Knoppert SN,Kazemier K, Van der Vis J, Grtter J et al. The Extent of Inflammatory Cell Infiltrate and Fibrosis in Lungs of Telomere- and Surfacta nt-Related Familial Pulmonary Fibrosis. Front. Med. 2021; 8: 736485. doi: https://doi.org/10.3389/fmed.2021.736485
Steele MP, Speer MC, Loyd JE, Brown K, Herron A, Slifer S, et al. Clinical and pathologic features of familial interstitial pneumonia. Am J Respir Crit Care Med. 2005; 172(9): 1146-52. doi: https://doi.org/10.1164/rccm.200408-1104OC
Vicary GW, Vergne Y, Santiago-Cornier A, Young L, Roman S. Pulmonary Fibrosis in Hermansky-Pudlak Syndrome. Ann Am Thorac Soc. 2016; 13(10): 1839-1846. doi: https://doi.org/10.1513/AnnalsATS.201603-186FR .
Velázquez-Díaz P, Nakajima E, Sorkhdini P, Hernández A, Eberle A, Yang D, et al. Hermansky-Pudlak Syndrome and Lung Disease: Pathogenesisand Therapeutics. Front. Pharmacol. 2021; 12: 644671. doi: https://doi.org/10.3389/fphar.2021.644671
Berber I, Erkurt MA, Kuku I, Kaya E, Koroglu M, Nizam I, et al. Hermansky-pudlak syndrome: a case report. Case Rep Hematol. 2014; 2014: 249195. doi: https://doi.org/10.1155/2014/249195 .
Dell’Angelica EC. The building BLOC(k)s of lysosomes and related organelles. Curr.Opin. Cell Biol. 2004; 16, 458-464. doi: https://doi.org/10.1016/j.ceb.2004.05.001
Huizing M, Anikster Y, Gahl WA. Hermansky-Pudlak syndrome and related disorders of organelle formation. Traffic 2004; 1, 823-835. doi: https://doi.org/10.1034/j.1600-0854.2000.011103.x
Yokoyama T, Gochuico BR. Hermansky-Pudlak syndrome pulmonary fibrosis: a rare inherited interstitial lung disease. Eur Respir Rev 2021; 30: 200193 doi: https://doi.org/10.1183/16000617.0193-2020 .
Krauss E, Gehrken G, Drakopanagiotakis F, Tello S, Dartsch S, Mauer O, et al. Clinical characteristics of patients with familial idiopathic pulmonary fibrosis (f-IPF). BMC Pulm Med 2019; 19, 130. doi: https://doi.org/10.1186/s12890-019-0895-6 .
Brantly M, Avila NA, Shotelersuk V, Lucero C, Huizin M, Gahl W, et al. Pulmonary function and high-resolution CT findings in patients with an inherited form of pulmonary fibrosis, Hermansky-Pudlak syndrome, due to mutations in HPS-1. Chest 2000; 117: 129-136. doi: https://doi.org/10.1378/chest.117.1.129
Gahl WA, Brantly M, Troendle J, Avila N, Padua A, et al . Effect of pirfenidone on the pulmonary fibrosis of Hermansky-Pudlak syndrome. Mol Gen Metabol 2002; 76: 234-242. doi: https://doi.org/10.1016/s1096-7192(02)00044-6
Avila NA, Brantly M, Premkumar A, Huizing M, Dwyer A, Gahl W, et al. Hermansky-Pudlak syndrome: radiography and CT of the chest compared with pulmonary function tests and genetic studies. AJR Am J Roentgenol 2002; 179: 887-892. doi: https://doi.org/10.2214/ajr.179.4.1790887
Hengst M, Naehrlich L, Mahavadi P, Grosse-On J, Terheggen S, Skanke L, et al. Hermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood. Orphanet J Rare Dis 2018; 13: 42. Doi: https://doi.org/10.1186/s13023-018-0780-z
Berkmen Y, Dsouza B. Case 124: Hermansky-Pudlak Syndrome. Radiology 2007; 245:595-599. doi: https://doi.org/10.1148/radiol.2452040495
King TE Jr, Pardo A, Selman M. Idiopathic pulmonary fibrosis. Lancet 2011; 378: 1949-61. doi: https://doi.org/10.1016/S0140-6736(11)60052-4
Osanai K. Rab38 Mutation and the Lung Phenotype. Int. J. Mol. Sci. 2018, 19, 2203; doi: https://doi.org/10.3390/ijms19082203
Nakatani Y, Nakamura N, Sano J, Inayama Y, Kawano N, Kamanaka S, et al. Interstitial pneumonia in Hermansky-Pudlak syndrome: significance of florid foamy swelling/degeneration (giant lamellar body degeneration) of type-2 pneumocytes. Virchows Arch 2000; 437: 304-313. doi: https://doi.org/10.1007/s004280000241
O’Brien KJ, Introne WJ, Akal O, Akal T, Barbu A, et al. Prolonged treatment with open-label pirfenidone in Hermansky- Pudlak syndrome pulmonary fibrosis. Mol. Genet. Metab. 2018; 125, 168-173. doi: https://doi.org/10.1016/j.ymgme.2018.07.012
Meyer KC, Decker CA. Role of pirfenidone in the management of pulmonary fibrosis. Ther Clin Risk Manag 2017. (13): 427-37. doi: https://doi.org/10.2147/TCRM.S81141
