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RESPIRATORY PATHOLOGIES
Pulmonary Hemosiderosis and Mucoviscidosis
2- Non-Infectious Respiratory Pathologies of the Upper Airways
3- Non-Infectious Pathologies of the Lungs and Lower Airways
4- Infectious Respiratory Pathologies of the Upper Airways
5- Lower respiratory tract infections
6- Preventing respiratory tract infections
7- Obstructive sleep apnea syndrome
8- Central Sleep Apnea, Alveolar Hypoventilation, and Hypoxemia
Whether simply associated with trisomy 21, such as mucoviscidosis (cystic fibrosis), or a genuine comorbidity, such as pulmonary hemosiderosis, although these two lung pathologies are rare – indeed very rare – they need to be thoroughly understood.
In the video and accompanying technical sheet, Dr. Hervé Walti, a pediatrician at the Jérôme Lejeune Institute, tells you more. He talks about their often atypical forms of presentation – which can potentially delay diagnosis – their often more severe progression, and finally their management, which should have the same treatment opportunities as neurotypical patients.
- Alimi A, Taytard J, Abou Taam R, Houdouin V, Forgeron A, Lubrano Lavadera M, Cros P, Gibertini I, Derelle J, Deschildre A, Thumerelle C, Epaud R, Reix P, Fayon M, Roullaud S, Troussier F, Renoux MC, de Blic J, Leyronnas S, Thouvenin G, Perisson C, Ravel A, Clement A, Corvol H, Nathan N; French RespiRare® group. Pulmonary hemosiderosis in children with Down syndrome: a national experience. Orphanet J Rare Dis. 2018 Apr 20;13(1):60. doi: 10.1186/s13023-018-0806-6. PMID: 29678139; PMCID: PMC5910623.
- Bear CE. A Therapy for Most with Cystic Fibrosis. Cell. 2020 Jan 23;180(2):211. doi: 10.1016/j.cell.2019.12.032. PMID: 31978337.
- Bloom JL, Frank B, Weinman JP, Galambos C, O’Leary ST, Liptzin DR, Fuhlbrigge RC. Diffuse alveolar hemorrhage in children with trisomy 21. Pediatr Rheumatol Online J. 2021 Jul 17;19(1):114. doi: 10.1186/s12969-021-00592-4. PMID: 34273981; PMCID: PMC8285855.
- Bush D, Abman SH, Galambos C. Prominent Intrapulmonary Bronchopulmonary Anastomoses and Abnormal Lung Development in Infants and Children with Down Syndrome. J Pediatr. 2017 Jan;180:156-162.e1. doi: 10.1016/j.jpeds.2016.08.063. Epub 2016 Sep 22. PMID: 27666181.
- Bush D, Galambos C, Dunbar Ivy D. Pulmonary hypertension in children with Down syndrome. Pediatr Pulmonol. 2021 Mar;56(3):621-629. doi: 10.1002/ppul.24687. Epub 2020 Feb 12. PMID: 32049444.
- Charbek E, Kamel G, Nayak RP. Ivacaftor for the Treatment of Cystic Fibrosis Coexisting with Trisomy 21: A Case Report. Cureus. 2019 Nov 18;11(11):e6179. doi: 10.7759/cureus.6179. PMID: 31890385; PMCID: PMC6919948.
- Galambos C, Minic AD, Bush D, Nguyen D, Dodson B, Seedorf G, Abman SH. Increased Lung Expression of Anti-Angiogenic Factors in Down Syndrome: Potential Role in Abnormal Lung Vascular Growth and the Risk for Pulmonary Hypertension. PLoS One. 2016 Aug 3;11(8):e0159005. doi: 10.1371/journal.pone.0159005. PMID: 27487163; PMCID: PMC4972384.
- Guy EL, Peckham DG, Brownlee KG, Conway SP, Lee TW. Cystic fibrosis co-existing with trisomy 21. J Cyst Fibros. 2010 Sep;9(5):330-1. doi: 10.1016/j.jcf.2010.05.003. Epub 2010 Jun 11. PMID: 20538528.
- Milunsky A. Cystic fibrosis and Down’s syndrome. Pediatrics. 1968 Sep;42(3):501-4. PMID: 4234128.
- Ruf K, Demerath A, Hebestreit H, Kunzmann S. Is sweat testing for cystic fibrosis feasible in patients with down syndrome? BMC Pulm Med. 2018 Jan 16;18(1):8. doi: 10.1186/s12890-018-0580-1. PMID: 29338740; PMCID: PMC5771200.
- Tobai H, Yano J, Sato N, Amanuma F, Takahashi M, Endo M, Ishimura M, Ohga S, Maruyama H. Successful Liposteroid Therapy for a Recurrent Idiopathic Pulmonary Hemosiderosis with Down Syndrome. Case Rep Pediatr. 2020 Apr 25;2020:5292947. doi: 10.1155/2020/5292947. PMID: 32373381; PMCID: PMC7197000.
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