Department of Physiology, Department of Medical Genetics, Faculty of Medicine, University of Medicine and Pharmacy of Craiova, Romania;
Rom J Morphol Embryol. 2020 Apr-Jun;61(2):397-406. doi: 10.47162/RJME.61.2.09.
Cystic fibrosis (CF) is a genetic disease, with autosomal recessive transmission, multisystemic, characterized by a remarkable clinical polymorphism and significant lethal prospective. Respiratory manifestations dominate the clinical picture, being present in all patients. The aim of the paper was to analyze the incidence of clinical manifestations, especially respiratory ones, as well as the contribution of interdisciplinary consultations to the positive diagnosis of CF, in a group of 16 patients who were hospitalized and treated in the IInd Pediatric Clinic and IInd Medical Clinic of the Emergency County Hospital, Craiova, Romania, in a period of 20 years. The 16 patients diagnosed with and treated of CF had all shown increased values of sweat chloride concentration of over 60 mmol∕L. The main symptoms and clinical signs encountered in these patients were cough (75%), sputum (62.5%), dyspnea (50%), wheezing (50%), stature hypotrophy (100%), pallor (37.5%), cyanosis (25%). All 16 patients had an acute exacerbation of chronic pulmonary disease. Of the total hospitalizations, the death was recorded only in the case of one female patient. The association of some clinical aspects specific with a positive result of the sweat test or the presence of the two pathological alleles made room for determining a positive diagnosis. The multisystemic nature of this disease requires a multidisciplinary approach to these patients. Histopathologically, there was a correspondence between lung morphological lesions and the results of imaging investigations.
囊性纤维化（CF）是一种常染色体隐性遗传病，具有多系统表现，其临床表型显著多样，具有显著的致死性。呼吸系统表现主导着临床特征，所有患者均有此表现。本文旨在分析一组 16 例在罗马尼亚克卢日纳波卡紧急县医院第二儿科诊所和第二内科诊所住院和治疗的患者的临床表现，特别是呼吸系统表现的发生率，以及多学科会诊对 CF 阳性诊断的贡献。这 16 例诊断为 CF 并接受治疗的患者的汗液氯化物浓度均超过 60mmol/L。这些患者主要的症状和临床体征包括咳嗽（75%）、咳痰（62.5%）、呼吸困难（50%）、喘鸣（50%）、身材矮小（100%）、苍白（37.5%）、发绀（25%）。所有 16 例患者均有慢性肺部疾病的急性加重。在所有住院病例中，仅一名女性患者死亡。一些特定的临床特征与汗液检测阳性结果或两个病理性等位基因的存在相结合，为确定阳性诊断提供了依据。这种疾病的多系统性质需要对这些患者进行多学科的治疗方法。组织病理学上，肺部形态学病变与影像学检查结果相符。
