A rare case of primary ciliary dyskinesia with heterotaxy

被引:0
|
作者
Quintela, Catia [1 ]
Meireles, Claudia [1 ]
Bettencourt, Maria Joao [1 ]
Ribeirinho, Augusto [1 ]
Bentes, Teresa [1 ]
机构
[1] Hosp Santo Antonio Capuchos, Ctr Hosp Lisboa Cent, Serv Gastroenterol Hosp, Lisbon, Portugal
关键词
Primary ciliary dyskinesia; heterotaxy;
D O I
暂无
中图分类号
R56 [呼吸系及胸部疾病];
学科分类号
摘要
Primary ciliary dyskinesia is an autosomal recessive disease with a clinical history of upper and lowers respiratory infections, rhinosinusitis and bronquitis associated with complete or partial situs inversus. The authors present a 78-year-old male caucasian patient with rhinosinusitis, lower respiratory tract infection and dyspnea, chronic otitis with hearing deficit and infertility followed in Gastroenterology for dyspepsia and constipation. The radiological studies revealed agenesis of right frontal sinus; bronchial wall thickening; bronchiectasis; cecum and ascending colon located on the left and small bowel occupies right side of abdomen. He had no immunodeficiency, allergies, cystic fibrosis and others. We concluded primary ciliary dyskinesia. with heterotaxy. For the rarity of this case we decided to present it.
引用
收藏
页码:115 / 120
页数:6
相关论文
共 50 条
  • [1] PRIMARY CILIARY DYSKINESIA: THE ROLE OF CCDC40 IN CILIOGENESIS AND HETEROTAXY
    Dinulos, M. B. Palko
    Flanagan, M. F.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2020, 182 (04) : 914 - 915
  • [2] Complete Ciliary Aplasia; a Rare Form of Primary Ciliary Dyskinesia
    Ergun, Pinar
    Deniz, Pelin Pinar
    Erdogan, Yurdanur
    Turay, Ulku Yilmaz
    Biber, Cigdem
    Ciftci, Bulent
    Yilmaz, Aydin
    Erdemli, Esra
    TURKISH THORACIC JOURNAL, 2010, 11 (03) : 121 - 123
  • [3] A Rare Case Of Tracheobronchomegaly (mounier-Kuhn) And Primary Ciliary Dyskinesia
    Ovunc, B.
    Wang, R.
    AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2016, 193
  • [4] A rare genetic mutation in primary ciliary dyskinesia
    Diakova, Svetlana
    Mizernitskiy, Yuriy
    Rozinova, Nadezda
    Bogorad, Anna
    Shabelnikova, Ekaterina
    Lev, Natalia
    Kostuchenko, Margarita
    EUROPEAN RESPIRATORY JOURNAL, 2017, 50
  • [5] Heterotaxy and complex structural heart defects in a mutant mouse model of primary ciliary dyskinesia
    Tan, Serena Y.
    Rosenthal, Julie
    Zhao, Xiao-Qing
    Francis, Richard J.
    Chatterjee, Bishwanath
    Sabol, Steven L.
    Linask, Kaari L.
    Bracero, Luciann
    Connelly, Patricia S.
    Daniels, Mathew P.
    Yu, Qing
    Omran, Heymut
    Leatherbury, Linda
    Lo, Cecilia W.
    JOURNAL OF CLINICAL INVESTIGATION, 2007, 117 (12): : 3742 - 3752
  • [6] DNAH6 and Its Interactions with PCD Genes in Heterotaxy and Primary Ciliary Dyskinesia
    Li, You
    Yagi, Hisato
    Onuoha, Ezenwa Obi
    Damerla, Rama Rao
    Francis, Richard
    Furutani, Yoshiyuki
    Tariq, Muhammad
    King, Stephen M.
    Hendricks, Gregory
    Cui, Cheng
    Saydmohammed, Manush
    Lee, Dong Min
    Zahid, Maliha
    Sami, Iman
    Leatherbury, Linda
    Pazour, Gregory J.
    Ware, Stephanie M.
    Nakanishi, Toshio
    Goldmuntz, Elizabeth
    Tsang, Michael
    Lo, Cecilia W.
    PLOS GENETICS, 2016, 12 (02):
  • [7] Characteristics of airway cilia motility and ultrastructure linked to heterotaxy but not associated with primary ciliary dyskinesia
    Venditto, Laura
    Bottier, Mathieu
    Rai, Ranjit
    Mclellan, Rhiannon
    Bailey, Georgina
    Shoemark, Amelia
    Hogg, Claire
    Burgoyne, Thomas
    EUROPEAN RESPIRATORY JOURNAL, 2024, 64
  • [8] Nasal Nitric Oxide And Clinical Characteristics Of Patients With Heterotaxy: Comparison To Primary Ciliary Dyskinesia
    Shapiro, A. J.
    Chawla, K. K.
    Baker, B. R.
    Minnix, S.
    Davis, S. D.
    Knowles, M. R.
    Leigh, M. W.
    AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2011, 183
  • [9] Primary Ciliary Dyskinesia: A Rare and Often Underdiagnosed Disease
    Shah, Avani
    Laguna, Theresa A.
    PEDIATRIC ANNALS, 2022, 51 (02): : E82 - E85
  • [10] First Case of Primary Ciliary Dyskinesia in Greenland
    Nygaard, Caroline
    Duno, Morten
    Heilmann, Carsten Johan
    Marthin, June K.
    Nygaard, Sarah
    Qvist, Tavs
    Rex, Hanne Lynge
    Nielsen, Kim G.
    PEDIATRIC PULMONOLOGY, 2025, 60 (01)