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
  • [41] Primary ciliary dyskinesia
    Gaertig, S.
    Konietzko, N.
    PNEUMOLOGE, 2006, 3 (05): : 364 - 371
  • [42] Primary Ciliary Dyskinesia
    Lobo, Jason
    Zariwala, Maimoona A.
    Noone, Peadar G.
    SEMINARS IN RESPIRATORY AND CRITICAL CARE MEDICINE, 2015, 36 (02) : 169 - 179
  • [43] PRIMARY CILIARY DYSKINESIA - CILIARY ACTIVITY
    VANDERBAAN, S
    VEERMAN, AJP
    WULFFRAAT, N
    BEZEMER, PD
    FEENSTRA, L
    ACTA OTO-LARYNGOLOGICA, 1986, 102 (3-4) : 274 - 281
  • [44] Ciliary disorientation in primary ciliary dyskinesia
    Jorissen, M
    Willems, T
    Van der Schueren, B
    E.R.S. & I.S.I.A.N. MEETING '98, 1998, : 123 - 126
  • [45] Ciliary hypoplasia: A rare cause of ciliary dyskinesia
    Rodriguez Gil, Yolanda
    Martinez Gonzalez, Miguel Angel
    Luis Orradre, Juan
    ULTRASTRUCTURAL PATHOLOGY, 2006, 30 (05) : 401 - 402
  • [46] A mouse model of primary ciliary dyskinesia reveals high frequencies of heterotaxy and complex congenital heart defects
    Tan, Serena Y.
    Leatherbury, Linda
    Rosenthal, Julie
    Zhao, Xiao-Qing
    Lo, Cecilia W.
    CIRCULATION, 2007, 116 (16) : 83 - 83
  • [47] A possible mechanism of primary ciliary dyskinesia: A case of a segmental defect in ciliary microtubules
    Ishii, S
    Minato, K
    Hagiwara, H
    Yonezu, M
    Shimomura, K
    Iizuka, K
    Dobashi, K
    Fukusato, T
    Mori, M
    INTERNAL MEDICINE, 1999, 38 (07) : 602 - 606
  • [48] An Uncommon Bacteria and a Rare Disease: Burkholderia Cepacia and Primary Ciliary Dyskinesia
    Muniz, J.
    Mosquera, R. A.
    De Jesus-Rojas, W.
    AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2023, 207
  • [49] Total Lung Consolidation/Collapse as a Rare Presentation of Primary Ciliary Dyskinesia
    Alhalabi, O.
    Hamad, S. G.
    Kayali, L.
    Asir, N.
    Abu-Hasan, M.
    AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2023, 207
  • [50] Ciliary defects and genetics of primary ciliary dyskinesia
    Escudier, Estelle
    Duquesnoy, Philippe
    Papon, Jean Francois
    Amselem, Serge
    PAEDIATRIC RESPIRATORY REVIEWS, 2009, 10 (02) : 51 - 54