Clinical and biochemical footprints of inherited metabolic diseases. XIII. Respiratory manifestations
Tài liệu tham khảo
Ferreira, 2019, Clinical and biochemical footprints of inherited metabolic diseases. I. Movement disorders, Mol. Genet. Metab., 127, 28, 10.1016/j.ymgme.2019.03.007
Ferreira, 2019, Clinical and biochemical footprints of inherited metabolic diseases. II. Metabolic liver diseases, Mol. Genet. Metab., 127, 117, 10.1016/j.ymgme.2019.04.002
Horvath, 2020, Clinical and biochemical footprints of inherited metabolic diseases. III. Psychiatric presentations, Mol. Genet. Metab., 130, 1, 10.1016/j.ymgme.2020.02.007
Ferreira, 2021, Clinical and biochemical footprints of inherited metabolic diseases. IV. Metabolic cardiovascular disease, Mol. Genet. Metab., 132, 112, 10.1016/j.ymgme.2020.12.290
Horvath, 2021, Clinical and biochemical footprints of inherited metabolic disease. V. Cerebral palsy phenotypes, Mol. Genet. Metab.
Ferreira, 2021, Clinical and biochemical footprints of inherited metabolic diseases. VI. Metabolic dermatoses, Mol. Genet. Metab., 134, 87, 10.1016/j.ymgme.2021.07.005
Garanto, 2022, Mol. Genet. Metab., 135, 311, 10.1016/j.ymgme.2022.02.002
Jerves, 2022, Clinical and biochemical footprints of inherited metabolic diseases. VIII. Neoplasias, Mol. Genet. Metab., S1096-7192, 00281
Bakhos, 2022, Clinical and biochemical footprints of inherited metabolic diseases. IX. Metabolic ear disease, Mol. Genet. Metab., 137, 223, 10.1016/j.ymgme.2022.09.005
Angelini, 2022, Clinical and biochemical footprints of inherited metabolic disorders: X. Metabolic myopathies, Mol. Genet. Metab., 137, 213, 10.1016/j.ymgme.2022.09.004
Salazar, 2023, Clinical and biochemical footprints of inherited metabolic disorders. XI. Gastrointestinal symptoms, Mol. Genet. Metab., 138, 10752, 10.1016/j.ymgme.2023.107528
de Boer, 2023, Clinical and biochemical footprints of inherited metabolic diseases. XII. Immunological defects, Mol. Genet. Metabol., 10.1016/j.ymgme.2023.107582
Ferreira, 2019, A proposed nosology of inborn errors of metabolism, Genet. Med. Off. J. Am. Coll. Med. Genet., 21, 102
Ferreira, 2021, Group Icimd advisory, an international classification of inherited metabolic disorders (ICIMD), J. Inherit. Metab. Dis., 44, 164, 10.1002/jimd.12348
Lee, 2018, Knowledge base and mini-expert platform for the diagnosis of inborn errors of metabolism, Genet. Med., 20, 151, 10.1038/gim.2017.108
Hall, 2011
Mortola, 2019, How to breathe? Respiratory mechanics and breathing pattern, Respir. Physiol. Neurobiol., 261, 48, 10.1016/j.resp.2018.12.005
Wijsenbeek, 2022, Interstitial lung diseases, Lancet., 400, 769, 10.1016/S0140-6736(22)01052-2
Allinson, 2023, Early childhood lower respiratory tract infect ion and premature adult death from respiratory disease in Great Britain: a national birth cohort study, Lancet., 10.1016/S0140-6736(23)00131-9
Horn, 1973, Role of viral infection and host factors in acute episodes of asthma and chronic bronchitis, Chest., 63, 44S, 10.1378/chest.63.4_Supplement.44S-a
Baumgartner, 1989, Biotinidase deficiency: a cause of subacute necrotizing encephalomyelopathy (Leigh syndrome). Report of a case with lethal outcome, Pediatr. Res., 26, 260, 10.1203/00006450-198909000-00021
Faverio, 2019, Molecular pathways and respiratory involvement in lysosomal storage diseases, Int. J. Mol. Sci., 20, 327, 10.3390/ijms20020327
Mauhin, 2017, Update on lysinuric protein intolerance, a multi-faceted disease retrospective cohort analysis from birth to adulthood, Orphanet. J. Rare Dis., 12, 3, 10.1186/s13023-016-0550-8
Yverneau, 2022, Influence of early identification and therapy on long-term outcomes in early-onset MTHFR deficiency, J. Inherit. Metab. Dis., 45, 848, 10.1002/jimd.12504
Borie, 2021, Interstitial lung disease in lysosomal storage disorders, Eur. Respir. Rev., 30, 10.1183/16000617.0363-2020
McGovern, 2017, Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD), Orphanet. J. Rare Dis., 12, 41, 10.1186/s13023-017-0572-x
DeRuisseau, 2009, Neural deficits contribute to respiratory insufficiency in Pompe disease, Proc. Natl. Acad. Sci. U. S. A., 106, 9419, 10.1073/pnas.0902534106
Santamaria, 2007, Upper airway obstructive disease in mucopolysaccharidoses: polysomnography, computed tomography and nasal endoscopy findings, J. Inherit. Metab. Dis., 30, 743, 10.1007/s10545-007-0555-5
Berger, 2013, Respiratory and sleep disorders in mucopolysaccharidosis, J. Inherit. Metab. Dis., 36, 201, 10.1007/s10545-012-9555-1
Mistry, 2002, Pulmonary hypertension in type 1 Gaucher’s disease: genetic and epigenetic determinants of phenotype and response to therapy, Mol. Genet. Metab., 77, 91, 10.1016/S1096-7192(02)00122-1
Theise, 1990, Pulmonary hypertension and Gaucher’s disease: logical association or mere coincidence?, Am. J. Pediatr. Hematol. Oncol., 12, 74, 10.1097/00043426-199021000-00014
Jardim, 2010, Contemporary issues in pulmonary hypertension, Eur. Respir. Rev., 19, 266, 10.1183/09059180.00008810
Ozand, 1994, Unusual presentations of propionic acidemia, Brain and Development, 16, 46, 10.1016/0387-7604(94)90096-5
Brandstetter, 1990, Corpulmonale as a complication of methylmalonic acidemia and homocystinuria (Cbl-C type), Am. J. Med. Genet., 36, 167, 10.1002/ajmg.1320360208
Schapira, 2006, Mitochondrial disease, Lancet, 368, 70, 10.1016/S0140-6736(06)68970-8
Coman, 2008, The skeletal manifestations of the congenital disorders of glycosylation, Clin. Genet., 73, 507, 10.1111/j.1399-0004.2008.01015.x
Synofzik, 2023, Ataxia and spastic paraplegia in mitochondrial disease, Handb. Clin. Neurol., 194, 79, 10.1016/B978-0-12-821751-1.00009-9
Donadieu, 2009, Respiratory distress and sudden death of a patient with GSDIb chronic neutropenia: possible role of pegfilgrastim, Haematologica, 94, 1175, 10.3324/haematol.2008.005330
Nyhan, 2005, Disorders of purine and pyrimidine metabolism, Mol. Genet. Metab., 86, 25, 10.1016/j.ymgme.2005.07.027
Chiappini, 2021, Prevention of recurrent respiratory infections : inter-society consensus, Ital. J. Pediatr., 47, 211, 10.1186/s13052-021-01150-0
Marcus, 2012, Diagnosis and management of childhood obstructive sleep apnea syndrome, Pediatrics., 130, 576, 10.1542/peds.2012-1671
Stanojevic, 2022, ERS/ATS technical standard on interpretive strategies for routine lung function tests, Eur. Respir. J., 60, 2101499, 10.1183/13993003.01499-2021
Graham, 2017, 2017 ERS/ATS standards for single-breath carbon monoxide uptake in the lung, Eur. Respir. J., 49, 1600016, 10.1183/13993003.00016-2016
ATS Committee on Proficiency Standards for Clinical Pulmonary Function Laboratories, 2002, ATS statement: guidelines for the six-minute walk test, Am. J. Respir. Crit. Care Med., 166, 111, 10.1164/ajrccm.166.1.at1102
Davis, 2013, AARC clinical practice guideline: blood gas analysis and hemoximetry: 2013, Respir. Care, 58, 1694, 10.4187/respcare.02786
Lumeng, 2008, Epidemiology of pediatric obstructive sleep apnea, Proc. Am. Thorac. Soc., 5, 242, 10.1513/pats.200708-135MG
Borrelli, 2022, Obstructive sleep apnoea in children with Down syndrome: a multidisciplinary approach, J. Pers. Med., 13, 71, 10.3390/jpm13010071
Grenier, 1993, High-resolution computed tomography of the airways, J. Thorac. Imaging., 8, 213, 10.1097/00005382-199322000-00006
Montella, 2012, Magnetic resonance imaging is an accurate and reliable method to evaluate non-cystic fibrosis paediatric lung disease, Respirology., 17, 87, 10.1111/j.1440-1843.2011.02067.x
Bhalla, 2022, Pediatric lung ultrasonography: current perspectives, Pediatr. Radiol., 52, 2038, 10.1007/s00247-022-05412-9
Benscoter, 2018, Bronchiectasis, chronic suppurative lung disease and protracted bacterial bronchitis, Curr. Probl. Pediatr. Adolesc. Health Care., 48, 119, 10.1016/j.cppeds.2018.03.003
Santamaria, 2013, Respiratory manifestations in patients with inherited metabolic diseases, Eur. Respir. Rev., 22, 437, 10.1183/09059180.00008012
Machado, 2022, Anaesthetic management in mucopolysaccharidoses patients: clinical experience in a tertiary hospital, Cureus., 14
Ramadan, 2009, A woman in her mid 30s with a dry cough and breathlessness, Thorax, 64, 644, 10.1136/thx.2008.107243
van der Beek, 2011, Rate of progression and predictive factors for pulmonary outcome in children and adults with Pompe disease, Mol. Genet. Metab., 104, 129, 10.1016/j.ymgme.2011.06.012
Muhlebach, 2011, Respiratory manifestations in mucopolysaccharidoses, Paediatr. Respir. Rev., 12, 133, 10.1016/j.prrv.2010.10.005
Scriver, 2001, 7012
Rossi, 2021, A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: a retrospective, single -center study and the generation of www.emergencyprotocol.net, J. Inherit. Metab. Dis., 44, 1124, 10.1002/jimd.12386
Hady-Cohen, 2021, Safety and recommendations for vaccinations of children with inborn errors of metabolism, Eur. J. Paediatr. Neurol., 35, 93, 10.1016/j.ejpn.2021.10.002
Lampe, 2020, The impact of COVID-19 on rare metabolic patients and healthcare providers: results from two MetabERN surveys, Orphanet. J. Rare Dis., 15, 341, 10.1186/s13023-020-01619-x
Paneghetti, 2022, One year of COVID-19: infection rates and symptoms in patients with inherited metabolic diseases followed by MetabERN, Orphanet. J. Rare Dis., 17, 109, 10.1186/s13023-022-02247-3
Forny, 2021, Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: first revision, J. Inherit. Metab. Dis., 44, 566, 10.1002/jimd.12370
Burlina, 2022, Long-term use of carglumic acid in methylmalonic aciduria, propionic aciduria and isovaleric aciduria in Italy: a qualitative survey, Eur. Rev. Med. Pharmacol. Sci., 26, 5136
Baumgartner, 2014, Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia, Orphanet. J. Rare Dis., 9, 130, 10.1186/s13023-014-0130-8
Longo, 2017, Anaplerotic therapy in propionic acidemia, Mol. Genet. Metab., 122, 51, 10.1016/j.ymgme.2017.07.003
Boy, 2017, Additional individual contributors. Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision, J. Inherit. Metab. Dis., 40, 75, 10.1007/s10545-016-9999-9
Strauss, 2020, Branched-chain α-ketoacid dehydrogenase deficiency (maple syrup urine disease): treatment, biomarkers, and outcomes, Mol. Genet. Metab., 129, 193, 10.1016/j.ymgme.2020.01.006
Pillai, 2019, Liver transplantation in propionic and methylmalonic acidemia: a single center study with literature review, Mol. Genet. Metab., 128, 431, 10.1016/j.ymgme.2019.11.001
Mazariegos, 2012, Liver transplantation for classical maple syrup urine disease: long-term follow-up in 37 patients and comparative United Network for Organ Sharing experience, J. Pediatr., 160, 116, 10.1016/j.jpeds.2011.06.033
Boneh, 1996, Prognostic clues and outcome of early treatment of nonketotic hyperglycinemia, Pediatr. Neurol., 15, 137, 10.1016/0887-8994(96)00158-0
Hennermann, 2012, Prediction of long-term outcome in glycine encephalopathy: a clinical survey, J. Inherit. Metab. Dis., 35, 253, 10.1007/s10545-011-9398-1
Valimahamed-Mitha, 2015, Lung involvement in children with lysinuric protein intolerance, J. Inherit. Metab. Dis., 38, 257, 10.1007/s10545-014-9777-5
Mauhin, 2017, Update on lysinuric protein intolerance, a multi-faceted disease retrospective cohort analysis from birth to adulthood, Orphanet. J. Rare Dis., 12, 3, 10.1186/s13023-016-0550-8
Ishii, 2014, Secondary pulmonary alveolar proteinosis complicating myelodysplastic syndrome results in worsening of prognosis: a retrospective cohort study in Japan, BMC Pulm. Med., 14, 37, 10.1186/1471-2466-14-37
Tanner, 2017, Inhaled sargramostim induces resolution of pulmonary alveolar proteinosis in lysinuric protein intolerance, JIMD Rep., 34, 97, 10.1007/8904_2016_15
Ceruti, 2007, Successful whole lung lavage in pulmonary alveolar proteinosis secondary to lysinuric protein intolerance: a case report, Orphanet. J. Rare Dis., 2, 14, 10.1186/1750-1172-2-14
Santamaria, 2004, Recurrent fatal pulmonary alveolar proteinosis after heart-lung transplantation in a child with lysinuric protein intolerance, J. Pediatr., 145, 268, 10.1016/j.jpeds.2004.04.047
Sebastio, 2011, Lysinuric protein intolerance: reviewing concepts on a multisystem disease, Am. J. Med. Genet. C Semin. Med. Genet., 157C, 54, 10.1002/ajmg.c.30287
Barilli, 2010, In lysinuric protein intolerance system y+L activity is defective in monocytes and in GM-CSF-differentiated macrophages, Orphanet. J. Rare Dis., 5, 32, 10.1186/1750-1172-5-32
Liu, 2017, Combined methylmalonic acidemia and homocysteinemia presenting predominantly with late-onset diffuse lung disease: a case series of four patients, Orphanet. J. Rare Dis., 12, 58, 10.1186/s13023-017-0610-8
Szymańska, 2015, Outcomes of oral biotin treatment in patients with biotinidase deficiency - twenty years follow-up, Mol. Genet. Metab. Rep., 5, 33
Broomfield, 2014, Reversal of respiratory failure in both neonatal and late onset isolated remethylation disorders, JIMD Rep., 16, 51, 10.1007/8904_2014_319
O’Callaghan, 2019, An update on the genetics, clinical presentation, and pathomechanisms of human riboflavin transporter deficiency, J. Inherit. Metab. Dis., 42, 598, 10.1002/jimd.12053
Farrell, 2021, Regulatory news: nulibry (fosdenopterin) approved to reduce the risk of mortality in patients with molybdenum cofactor deficiency type A: FDA approval summary, J. Inherit. Metab. Dis., 44, 1085, 10.1002/jimd.12421
Dale, 2019, Neutropenia in glycogen storage disease Ib: outcomes for patients treated with granulocyte colony-stimulating factor, Curr. Opin. Hematol., 26, 16, 10.1097/MOH.0000000000000474
Ueno, 2009, Efficacy of oral sildenafil in a beraprost-treated patient with severe pulmonary hypertension secondary to type I glycogen storage disease, Circ. J., 73, 1965, 10.1253/circj.CJ-08-0181
Ramaswami, 2021, Throwing a spotlight on under-recognized manifestations of Gaucher disease: pulmonary involvement, lymphadenopathy and Gaucheroma, Mol. Genet. Metab., 133, 335, 10.1016/j.ymgme.2021.06.009
Goitein, 2001, Lung involvement and enzyme replacement therapy in Gaucher’s disease, QJM., 94, 407, 10.1093/qjmed/94.8.407
McEachern, 2007, A specific and potent inhibitor of glucosylceramide synthase for substrate inhibition therapy of Gaucher disease, Mol. Genet. Metab., 91, 259, 10.1016/j.ymgme.2007.04.001
Schiffmann, 2008, Randomized, controlled trial of miglustat in Gaucher’s disease type 3, Ann. Neurol., 64, 514, 10.1002/ana.21491
Lo, 2011, Pulmonary vascular disease in Gaucher disease: clinical spectrum, determinants of phenotype and long-term outcomes of therapy, J. Inherit. Metab. Dis., 34, 643, 10.1007/s10545-011-9313-9
Santamaria, 1998, Pulmonary manifestations of Gaucher disease: an increased risk for L444P homozygotes?, Am. J. Respir. Crit. Care Med., 157, 985, 10.1164/ajrccm.157.3.9706057
Correction to Lancet Respir Med 2020; published online Feb 21. https://doi.org/10.1016/S2213-2600(20)30079-5. Lancet Respir Med. 2020 Apr;8(4):e26. 10.1016/S2213-2600(20)30103-X. Epub 2020 Feb 28. Erratum for: Lancet Respir Med. 2020 Feb 24; 10.1016/S2213-2600(20)30103-X.
Goobie, 2019, Lessons from lung transplantation: cause for redefining the pathophysiology of pulmonary hypertension in Gaucher disease, Respir. Med. Case Rep., 28
Jezela-Stanek, 2020, Pulmonary involvement in selected lysosomal storage diseases and the impact of enzyme replacement therapy: a state-of-the art review, Clin. Respir. J., 14, 422, 10.1111/crj.13150
Franzen, 2017, Long-term follow-up of pulmonary function in Fabry disease: a bi-center observational study, PLoS One, 12, 10.1371/journal.pone.0180437
Pietilä-Effati, 2022, Pulmonary manifestations and the effectiveness of enzyme replacement therapy in Fabry Disease with the p. Arg227Ter (p.R227*) mutation, Mol. Genet. Genomic Med., 10, e1915, 10.1002/mgg3.1915
Odler, 2017, Long time enzyme replacement therapy stabilizes obstructive lung disease and alters peripheral immune cell subsets in Fabry patients, Clin. Respir. J., 11, 942, 10.1111/crj.12446
Wang, 2008, Enzyme replacement therapy stabilizes obstructive pulmonary Fabry disease associated with respiratory globotriaosylceramide storage, J. Inherit. Metab. Dis., 31, S369, 10.1007/s10545-008-0930-x
Kim, 2007, Pulmonary manifestations of Fabry disease and positive response to enzyme replacement therapy, Am. J. Med. Genet. A, 143, 377, 10.1002/ajmg.a.31600
Wasserstein, 2015, Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency, Mol. Genet. Metab., 116, 88, 10.1016/j.ymgme.2015.05.013
Wasserstein, 2018, Olipudase alfa for treatment of acid sphingomyelinase deficiency (ASMD): safety and efficacy in adults treated for 30 months, J. Inherit. Metab. Dis., 41, 829, 10.1007/s10545-017-0123-6
Solomon, 2020, Association of miglustat with swallowing outcomes in Niemann-Pick disease, type C1, JAMA Neurol., 77, 1564, 10.1001/jamaneurol.2020.3241
Victor, 2003, Niemann-Pick disease: sixteen-year follow-up of allogeneic bone marrow transplantation in a type B variant, J. Inherit. Metab. Dis., 26, 775, 10.1023/B:BOLI.0000009950.81514.c8
Sideris, 2016, Pulmonary alveolar proteinosis and Niemann Pick disease type B: an unexpected combination, Respir. Med. Case Rep., 19, 37
Griese, 2010, Respiratory disease in Niemann-Pick type C2 is caused by pulmonary alveolar proteinosis, Clin. Genet., 77, 119, 10.1111/j.1399-0004.2009.01325.x
Pena, 2019, Neuromuscul. Disord., 29, 167, 10.1016/j.nmd.2018.12.004
Kishnani, 2009, Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease, Pediatr. Res., 66, 329, 10.1203/PDR.0b013e3181b24e94
van der Ploeg, 2010, A randomized study of alglucosidase alfa in late-onset Pompe’s disease, N. Engl. J. Med., 362, 1396, 10.1056/NEJMoa0909859
Berli, 2022, Clinical efficacy of the enzyme replacement therapy in patients with late-onset Pompe disease: a systematic review and a meta-analysis, J. Neurol., 269, 733, 10.1007/s00415-021-10526-5
Al-Sannaa, 2015, Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: a retrospective case series analysis of nine sibships, Orphanet. J. Rare Dis., 10, 131, 10.1186/s13023-015-0344-4
Muenzer, 2017, Clinical outcomes in idursulfase-treated patients with mucopolysaccharidosis type II: 3-year data from the hunter outcome survey (HOS), Orphanet. J. Rare Dis., 12, 161, 10.1186/s13023-017-0712-3
Hendriksz, 2014, Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study, J. Inherit. Metab. Dis., 37, 979, 10.1007/s10545-014-9715-6
Brunelli, 2021, Enzyme replacement therapy with galsulfase for mucopolysaccharidosis type VI, Cochrane Database Syst. Rev., 9, CD009806
Aldenhoven, 2015, Long-term outcome of Hurler syndrome patients after hematopoietic cell transplantation: an international multicenter study, Blood., 125, 2164, 10.1182/blood-2014-11-608075
Sohn, 2012, Enzyme replacement therapy improves joint motion and outcome of the 12-min walk test in a mucopolysaccharidosis type VI patient previously treated with bone marrow transplantation, Am. J. Med. Genet. A, 158A, 1158, 10.1002/ajmg.a.35263
Peters, 2004, Cerebral X-linked adrenoleukodystrophy: the internatio nal hematopoietic cell transplantation experience from 1982 to 1999, Blood., 104, 881, 10.1182/blood-2003-10-3402
Klouwer, 2019, The cholic acid extension study in Zellweger spectrum disorders: results and implications for therapy, J. Inherit. Metab. Dis., 42, 303, 10.1002/jimd.12042
Mozaffar, 2022, Analysis of pooled data from clinical trials in treatment-naïve patients with late-onset Pompe disease (LOPD) to inform on the efficacy of avalglucosidase alfa, Mol. Genet. Metab., 135, S86, 10.1016/j.ymgme.2021.11.222
Brunetti-Pierri, 2022, Liver-directed adeno-associated virus–mediated gene therapy for mucopolysaccharidosis type VI, NEJM Evid., 1, 10.1056/EVIDoa2200052
Grünert, 2022, Efficacy and safety of empagliflozin in glycogen storage disease type Ib: data from an international questionnaire, Genet. Med., 24, 1781, 10.1016/j.gim.2022.04.001