S Ade, D Akanni, M Efio, A Djibril, A Adjanayo, K S Savi de Tove, A D Harries
{"title":"卡塔赫纳综合征:西非贝宁两例首次报告。","authors":"S Ade, D Akanni, M Efio, A Djibril, A Adjanayo, K S Savi de Tove, A D Harries","doi":"","DOIUrl":null,"url":null,"abstract":"<p><p>BACKGROUND: Kartagener Syndrome is a rare autosomal recessive genetic disorder, belonging to the larger group of diseases of primary ciliary dyskinesia, including situs inversus. This underdiagnosed disease, especially in developing settings, may be potentially responsible for the impairment of the quality of life of patients and can even be life-threatening. We report on two patients with this condition in Benin, in whom the diagnosis had not previously been made, despite a long history of upper and lower respiratory symptoms. The patients were admitted with complications, a superinfection of bronchiectasis complicated by pneumonia and purulent pleurisy in a 30-year-old male and by a refractory hypoxemia, acute pulmonary heart disease in another 32-year-old male. Treatment outcome was favourable in the first case, but less satisfactory in the second one.</p>","PeriodicalId":23680,"journal":{"name":"West African journal of medicine","volume":"41 12","pages":"1219-1224"},"PeriodicalIF":0.0000,"publicationDate":"2024-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Kartagener Syndrome: A First Report of Two Cases from Benin, West Africa.\",\"authors\":\"S Ade, D Akanni, M Efio, A Djibril, A Adjanayo, K S Savi de Tove, A D Harries\",\"doi\":\"\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>BACKGROUND: Kartagener Syndrome is a rare autosomal recessive genetic disorder, belonging to the larger group of diseases of primary ciliary dyskinesia, including situs inversus. This underdiagnosed disease, especially in developing settings, may be potentially responsible for the impairment of the quality of life of patients and can even be life-threatening. We report on two patients with this condition in Benin, in whom the diagnosis had not previously been made, despite a long history of upper and lower respiratory symptoms. The patients were admitted with complications, a superinfection of bronchiectasis complicated by pneumonia and purulent pleurisy in a 30-year-old male and by a refractory hypoxemia, acute pulmonary heart disease in another 32-year-old male. Treatment outcome was favourable in the first case, but less satisfactory in the second one.</p>\",\"PeriodicalId\":23680,\"journal\":{\"name\":\"West African journal of medicine\",\"volume\":\"41 12\",\"pages\":\"1219-1224\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-12-30\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"West African journal of medicine\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"West African journal of medicine","FirstCategoryId":"1085","ListUrlMain":"","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}
Kartagener Syndrome: A First Report of Two Cases from Benin, West Africa.
BACKGROUND: Kartagener Syndrome is a rare autosomal recessive genetic disorder, belonging to the larger group of diseases of primary ciliary dyskinesia, including situs inversus. This underdiagnosed disease, especially in developing settings, may be potentially responsible for the impairment of the quality of life of patients and can even be life-threatening. We report on two patients with this condition in Benin, in whom the diagnosis had not previously been made, despite a long history of upper and lower respiratory symptoms. The patients were admitted with complications, a superinfection of bronchiectasis complicated by pneumonia and purulent pleurisy in a 30-year-old male and by a refractory hypoxemia, acute pulmonary heart disease in another 32-year-old male. Treatment outcome was favourable in the first case, but less satisfactory in the second one.