Case report Clinical presentation of exclusive cystic fibrosis lung disease

نویسندگان

  • Burkhard Tümmler
  • Inez Bronsveld
  • Jan Bijman
  • Frauke Mekus
  • Manfred Ballmann
  • Henk J Veeze
چکیده

The diagnosis of cystic fibrosis (CF) is based on the occurrence of two mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and on assays that measure the basic defect of abnormal chloride transport in the affected organs. However, in cases of atypical CF not all diagnostic tests may be positive. We present a patient with an atypical CF phenotype in whom the only presenting symptom was severe CF-like lung disease substantiated by an abnormal nasal potential diVerence. Genetic analysis showed that the patient was a symptomatic heterozygote, which suggests that one lesion in the CFTR gene may be suYcient to cause CF-like lung disease. (Thorax 1999;54:278–281)

برای دانلود رایگان متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Positive Expiratory Pressure (PEP) versus Conventional Chest Physiotherapy in Pediatric Patients with Acute Exacerbation of Cystic Fibrosis

Background Pulmonary involvement is the main cause of mortality in cystic fibrosis (CF). Airway clearance techniques are non-pharmacological complement options for CF patients. The aim of this study was to evaluate the short-term outcome of airway cleaning treatment in patients with cystic fibrosis in a children's hospital. Materials and Methods This clinical trial study conducted on 40 CF pati...

متن کامل

Molecular screening of R117H mutation in non caucasian cystic fibrosis patients in the north of Iran

Cystic fibrosis is an autosomal recessive disease caused by a wide spectrum of mutations in the gene encoding for the cystic fibrosis transmembrane conductance regulator protein. These mutations that correlate with different phenotypes, vary in their frequency and distribution in different populations. In this study missense mutation R117H that associated with the different clinical symptoms wa...

متن کامل

Coincidence of Cystic Fibrosis in Mother and her Child Related to Infertility

Cystic fibrosis (CF), the most common life-shortening, hereditary disease in whites, manifests itself principally in childhood. Patients presenting with CF as adults appear to be different when compared to patients diagnosed with CF during childhood. Often these patients have been previously diagnosed with asthma, chronic bronchitis or emphysema. We present a case of a woman diagnosed with CF a...

متن کامل

Pediatric Idiopathic Pulmonary Fibrosis: A Case Series report

Khalilzadeh S1, Baghaei N2, Bolorsaz MR1, Masjedi MR3 1. Associate professor, Department of pediatrics, Education, research and treatment center of tuberculosis and long diseases, Shahid Beheshti University of medical sciences 2. Assistant professor, Department of pediatrics, Education, research and treatment center of tuberculosis and long diseases, Shahid Beheshti University of medical s...

متن کامل

Clinical presentation of exclusive cystic fibrosis lung disease.

The diagnosis of cystic fibrosis (CF) is based on the occurrence of two mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and on assays that measure the basic defect of abnormal chloride transport in the affected organs. However, in cases of atypical CF not all diagnostic tests may be positive. We present a patient with an atypical CF phenotype in whom the only pr...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

عنوان ژورنال:

دوره   شماره 

صفحات  -

تاریخ انتشار 1999