ABSTRACT
PROBLEM: Cystic fibrosis (CF) is the most common congenital defect of metabolism in Europe. Therefore we tried to detect this disease as early as possible before clinical symptoms occur. Thus early diagnosis can be the basis for an early start of treatment. PATIENTS AND METHODS: As part of a complete neonatal screening program in our region we investigated the concentration of immuno-reactive trypsin (IRT) in dried blood samples. Genomic investigation of the same blood sample for the most common CF mutations was performed when a critical value of IRT was exceeded. RESULTS: From 6/1996 until 3/2000 (46 months) we investigated the blood of 49,926 newborn children. Due to a high IRT value (> 70 ng/ml) in 579 cases, a genomic investigation was performed. In 38 children we detected one of the three most frequent CF mutations (delta F508, G551D, R553X) by polymerase chain reaction (PCR). The sweat test (pilocarpine iontophoresis) confirmed cystic fibrosis in 8 newborns. Four times a homocygocity for the mutation delta F508 was found and four times a compound heterocygocity (one time delta F508/R553X und three times delta F508/others). Only three of these eight CF patients already had clinical symptoms of the disease at this time, only in one case had this diagnosis been considered. An additional newborn with meconium ileus had been diagnosed as cystic fibrosis before performing the screening. Up to now we have not found any case of false negative testing. CONCLUSION: We found this procedure of neonatal testing practicable and therefore recommend its continuation. The genomic test should include the search for additional CF mutations. As alternative method a second IRT-test should be considered at the end of the first month of life for those children with initial IRT-concentrations above 150 ng/ml and without evidence of the three tested CFTR-mutations.
Subject(s)
Cystic Fibrosis/diagnosis , Neonatal Screening , Urban Population , Cystic Fibrosis/genetics , DNA Mutational Analysis , Diagnosis, Differential , Female , Genetic Testing , Germany , Humans , Infant, Newborn , Male , Predictive Value of Tests , Pregnancy , Trypsin/bloodSubject(s)
Hypercapnia/etiology , Pulmonary Heart Disease/etiology , Respiration, Artificial/instrumentation , Respiratory Insufficiency/etiology , Respiratory Insufficiency/therapy , Scoliosis/congenital , Scoliosis/complications , Blood Gas Monitoring, Transcutaneous , Child , Female , Humans , Pulmonary Heart Disease/physiopathology , Radiography , Respiration, Artificial/methods , Respiratory Insufficiency/blood , Scoliosis/diagnostic imaging , Scoliosis/physiopathology , Sleep, REM/physiology , Thoracic VertebraeABSTRACT
The term sinobronchial syndrome is often used, but there is no generally accepted definition. Due to the functional and clinical unity of the whole respiratory tract infectious and allergic irritations lead to homogeneous reactions of the bronchi and the paranasal sinuses. On the other hand there are hints that a disease in one region can cause problems in the other or reinforce it. Probably bronchi and sinuses can also become infected simultaneously from the pharynx. In chronic cases sinusitis and bronchitis are often only symptoms masking an underlying disease that requires differentiated diagnostics and treatment, e.g. cystic fibrosis, primary ciliary dyskinesia, and immunological defects.
Subject(s)
Bronchitis/etiology , Sinusitis/etiology , Child , Chronic Disease , Diagnosis, Differential , Humans , SyndromeABSTRACT
The authors survey of recent advances in CF research and their therapeutic implications: 1. the possibility of successful gene therapy by transfer of the normal gene to airway epithelial cells. 2. inhalations with the potassium-sparing diuretic amiloride that diminish the viscosity of the bronchial secretions, 3. application of adenosine or uridine triphosphate (ATP or UTP) to the apical surface of the respiratory epithelial cells which intervene with the function of ion channels, 4. enzymatic cleavage and liquidification of bronchial secretions by aerosolized human recombinante DNase. In addition, the possible advantages of (heart-) lung-transplantation are also discussed.
Subject(s)
Cystic Fibrosis/therapy , Adenosine Triphosphate/administration & dosage , Administration, Inhalation , Amiloride/administration & dosage , Child , Cystic Fibrosis/genetics , Deoxyribonucleases/administration & dosage , Genetic Therapy , Heart-Lung Transplantation , Humans , Lung Transplantation , Uridine Triphosphate/administration & dosageSubject(s)
Tuberculosis/diagnosis , Adolescent , Adult , Antitubercular Agents/therapeutic use , Child , Child, Preschool , Diagnosis, Differential , Female , Germany , Humans , Male , Radiography , Tuberculin Test , Tuberculosis/drug therapy , Tuberculosis/epidemiology , Tuberculosis, Pulmonary/diagnostic imagingSubject(s)
Child Welfare/history , Pediatrics/history , Child , Germany , History, 19th Century , History, 20th Century , HumansABSTRACT
The authors give a statistical survey about the development of paediatric bronchology in the German Democratic Republic since 1957. They draw conclusions from this survey about the future trends in this field, which is part of paediatric bronchopneumology.
Subject(s)
Bronchial Diseases/therapy , Pulmonary Medicine/trends , Child , Germany , Humans , Pulmonary Medicine/statistics & numerical dataABSTRACT
The management goals common to all age groups are to reduce symptoms, to permit a normal physically active lifestyle, and to prevent irreversible airway obstruction. Main measures are environmental manipulation (avoidance of allergen contact, cigarette smoke and pets; psychotherapeutic management), assessment of severity, training for self management, hyposensitization (pollen, HDM, insect venoms) and pharmacotherapy. Medication should be adapted to age and severity of the disease, and the different drugs should be used stepwise. The first step includes the application of bronchodilators in which beta-2-stimulants are to be preferred. If we use spacers or jet nebulizers infants can also be treated successfully. The value of xanthines is discussed controversially. The next steps tend to reduce the inflammatory reaction. In this direction sodium cromoglycate and ketotifen are useful especially in childhood, and inhaled steroids have increasing importance. The use of oral corticosteroids should be the last step.
Subject(s)
Asthma/therapy , Adolescent , Airway Obstruction/etiology , Airway Obstruction/prevention & control , Asthma/complications , Asthma/prevention & control , Child , Child, Preschool , Clinical Protocols , Combined Modality Therapy , Desensitization, Immunologic , Drug Therapy, Combination , Humans , InfantABSTRACT
Autogenic drainage, PEP mask breathing as well as physical exercise are now well established in the treatment of pulmonary disease in cystic fibrosis, but there are different opinions about oxygen therapy over a long period as well as corticosteroid treatment. First reports on amiloride inhalations seem to be hopeful, but there is no experience with cystic fibrosis children till now, therefore clinical use can not be recommended. Heart lung transplants are not to consider as an alternative treatment for all cystic fibrosis patients, in special cases it may be successful.
Subject(s)
Cystic Fibrosis/therapy , Child , Combined Modality Therapy , Humans , Quality of LifeABSTRACT
Report of a 8 month old girl with a BCG-Ostitis in the head of the left humerus. The diagnosis was ascertained by typical radiological, histological and immun-histochemical changes. Tuberculostatic therapy resulted in healing. The value of the BCG-vaccination remains beyond all question.
Subject(s)
BCG Vaccine/adverse effects , Osteitis/etiology , Tuberculosis, Osteoarticular , Antitubercular Agents/therapeutic use , Female , Humans , Humerus/diagnostic imaging , Infant , Osteitis/diagnostic imaging , Osteitis/drug therapy , Radiography , Tuberculosis, Osteoarticular/drug therapyABSTRACT
In the National Cancer Registry of the GDR from 1961 to 1985 only 66 cases malignant (and semimalignant) tumors of the bronchi and lung in patients under 20 years of age were collected. These amounted to 0,037 per cent of all tumor cases of this localization. These tumors affected 37 boys and 29 girls. Tumors of mesenchymal origin prevailed (32 cases = 48.4 per cent) in comparison to those of epithelial (37.8 per cent) and embryonal origin (10.7 per cent). Among these cases were 10 bronchial carcinomas and 10 bronchial adenomas. 51.5 per cent of all patients died in the clinic. Less than half of the patients were due to adequate therapy discharged free of any tumor. Data about the late prognosis of these patients were not available.
Subject(s)
Bronchial Neoplasms/epidemiology , Lung Neoplasms/epidemiology , Registries , Adolescent , Child , Child, Preschool , Cross-Sectional Studies , Female , Germany, East/epidemiology , Humans , Incidence , Infant , MaleABSTRACT
Despite some similarities and fluent changes of the clinical feature it is proposed to distinguish on principle between bronchiolitis, obstructive bronchitis and asthma. Main reasons for such a practice are: age-related peculiarities of the respiratory system, different aetiology and pathogenesis, variable therapeutic measures and a different prognosis.
Subject(s)
Asthma/etiology , Lung Diseases, Obstructive/etiology , Bronchiolitis/etiology , Bronchitis/etiology , Child, Preschool , Humans , Infant , PrognosisABSTRACT
The authors give a survey of problems concerning the use of antibiotic aerosols in cystic fibrosis patients. They give recommendations when and how to use this form of treatment. The combination of inhaled antibiotics with the oral or intravenous antibiotic therapy can be recommended best for patients with a chronic lung infection with Pseudomonas aeruginosa.
Subject(s)
Anti-Bacterial Agents/administration & dosage , Cystic Fibrosis/drug therapy , Administration, Inhalation , Cystic Fibrosis/complications , Humans , Pseudomonas Infections/complications , Pseudomonas Infections/drug therapy , Respiratory Tract Infections/complications , Respiratory Tract Infections/drug therapyABSTRACT
The authors give a survey on the problems of sport activities in CF patients, which is based on own experience and the data of the literature. All these patients should take part in endurance sport. The regular training program should be carefully planned according to the state of each single patient. Regular medical supervision of it is necessary. Only in selected cases CF patients, too, can take part in marathon races.
Subject(s)
Cystic Fibrosis/physiopathology , Physical Endurance , Running , Adolescent , Adult , Cystic Fibrosis/rehabilitation , Female , Humans , Male , Physical Education and Training , Physical Examination , Sports MedicineABSTRACT
Adult patients suffering from infection with the HIV-virus acquire pneumocystis carinii pneumonia in nearly 80 per cent and in the half of all patients the basic disease AIDS has been detected by this lung infection. In childhood the patients with AIDS show most frequently interstitial lung diseases due to pneumocystis carinii or to lymphoid interstitial pneumonia. Also recurrent bacterial pneumonia may frequently occur, likewise infections with the cytomegalovirus or the Epstein-Barr-virus causing atypical pneumonia. The identification of the aetiology of these lung diseases is more difficult in children than in adults. In future it should be necessary to include more often AIDS as the basic disease into the differential diagnostic considerations in cases of such lung infections.
Subject(s)
Acquired Immunodeficiency Syndrome/complications , Opportunistic Infections/complications , Respiratory Tract Infections/complications , Adult , Child , Humans , Pneumonia, Pneumocystis/complications , Pulmonary Fibrosis/complicationsABSTRACT
The authors collected data of 175 malignant and semimalignant tumors in children and adolescents. 74.3 per cent of all reported cases were epithelial tumors (44.0 per cent bronchial adenomas and 30.3 per cent carcinomas), 15.4 per cent of embryonal and 10.3 per cent of mesenchymal origin. All age groups were affected. In children under one year of age embryonal tumors prevailed, in preschool age carcinomas and embryonal tumors dominated while in schoolchildren more often bronchial adenomas and carcinomas were found. All these tumors are very unusual in the pediatric age group. Therefore the right diagnosis is often missed for a longer time.
Subject(s)
Bronchial Neoplasms/epidemiology , Lung Neoplasms/epidemiology , Adolescent , Bronchial Neoplasms/classification , Bronchial Neoplasms/pathology , Child , Child, Preschool , Germany, East/epidemiology , Humans , Infant , Lung Neoplasms/classification , Lung Neoplasms/pathologyABSTRACT
Two methods for the determination of sodium in the sweat after stimulation by pilocarpine-iontophoresis were compared in 227 patients, among them 27 with a known cystic fibrosis. These two methods were 1. the standardized method by flame fotometry (State Pharmacopoeia of the German Democratic Republic) and 2. the determination of the sweat conductance by the new apparatus "CF-Conductognost". Both methods showed a good correlation. We recommend the conductometry for the decentralized screening because it saves time and gives results immediately. But in all patients with a questionable or pathologic value of conductance the sweat test should be repeated with the standardized method. This concerns only about 10 per cent of all patients.
