[Management of Primary Ciliary Dyskinesia]. / Management der Primären Ciliären Dyskinesie.

Primary Ciliary Dyskinesia (PCD, MIM 242650) is a rare, hereditary multiorgan disease characterized by malfunction of motile cilia. Hallmark symptom is a chronic airway infection due to mucostasis leading to irreversible lung damage that may progress to respiratory failure. There is no cure for this genetic disease and evidence-based treatment is limited. Until recently, there were no randomized controlled trials performed in PCD, but this year, data of the first placebo-controlled trial on pharmacotherapy in PCD were published. This cornerstone in the management of PCD was decisive for reviewing currently used treatment strategies. This article is a consensus of patient representatives and clinicians, which are highly experienced in care of PCD-patients and provides an overview of the management of PCD. Treatments are mainly based on expert opinions, personal experiences, or are deduced from other lung diseases, notably cystic fibrosis (CF), COPD or bronchiectasis. Most strategies focus on routine airway clearance and treatment of recurrent respiratory tract infections. Non-respiratory symptoms are treated organ specific. To generate further evidence-based knowledge, other projects are under way, e. g. the International PCD-Registry. Participating in patient registries facilitates access to clinical and research studies and strengthens networks between centers. In addition, knowledge of genotype-specific course of the disease will offer the opportunity to further improve and individualize patient care.

[CF Lung Disease - a German S3 Guideline: Module 2: Diagnostics and Treatment in Chronic Infection with Pseudomonas aeruginosa]. / S3-Leitlinie: Lungenerkrankung bei Mukoviszidose ­ Modul 2: Diagnostik und Therapie bei der chronischen Infektion mit Pseudomonas aeruginosa.

Cystic Fibrosis (CF) is the most common autosomal-recessive genetic disease affecting approximately 8000 people in Germany. The disease is caused by mutations in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene leading to dysfunction of CFTR, a transmembrane chloride channel. This defect causes insufficient hydration of the epithelial lining fluid which leads to chronic inflammation of the airways. Recurrent infections of the airways as well as pulmonary exacerbations aggravate chronic inflammation, lead to pulmonary fibrosis and tissue destruction up to global respiratory insufficiency, which is responsible for the mortality in over 90 % of patients. The main aim of pulmonary treatment in CF is to reduce pulmonary inflammation and chronic infection. Pseudomonas aeruginosa (Pa) is the most relevant pathogen in the course of CF lung disease. Colonization and chronic infection are leading to additional loss of pulmonary function. There are many possibilities to treat Pa-infection. This is a S3-clinical guideline which implements a definition for chronic Pa-infection and demonstrates evidence-based diagnostic methods and medical treatment for Pa-infection in order to give guidance for individual treatment options.

Questionnaire to preselect patients with a high probability of primary ciliary dyskinesia.

BACKGROUND: As diagnostic methods for primary ciliary dyskinesia are not generally available, we tested whether clinical criteria allow to preselect patients with a high probability of this disease, who should be further investigated in a specialized centre. PATIENTS AND METHODS: In patients with chronic cough we compared parameters of the case history with the finding of a reduced ciliary beat frequency (CBF). Data sheets of 323 patients (133 females, 190 males) aged 1 week through 40 years (median age 4.5 years) were available for analysis. Of these patients 46 (14%) had a reduced CBF. RESULTS: In this group the following features were found significantly more frequently compared to patients with normal CBF: neonatal respiratory disorder (odds ratio (OR) 9.0; 95% confidence interval (95% CI) 3.2;25), situs inversus (OR 8.1; 95% CI 2.5;26), retention of airway secretions (OR 6.7; 95% CI 2.4;19), recurrent pneumonia (OR 4.1; 95% CI 1.8;9.5), bronchiectasis (OR 3.5; 95% CI 1.2;11), asthma with poor response to treatment (OR 2.4; 95% CI 1.1;5.3). At least one of these potential indicators was present in 91% of the patients with reduced CBF. CONCLUSIONS: In patients with chronic cough specific parameters of the case history indicate a high probability of a reduced ciliary beat frequency which is an indicator for primary ciliary dyskinesia. If none of these findings is present, a reduced CBF is highly unlikely.

[Low-dose CT-guided transthoracic lung biopsy for evaluation of non-infectious chronic interstitial lung disease in children]. / Die Niedrigdosis-CT navigierte transthorakale Lungenbiopsie zur Evaluation chronisch-interstitieller, nicht-infektiöser Lungenerkrankungen bei Kindern.

BACKGROUND: Children with interstitial pneumonitis (IP) of unknown origin often have to undergo open lung biopsy to establish a final diagnosis. Open lung biopsy is an invasive procedure with major potential complications. In the meantime, CT-guided transthoracic lung biopsy (TLB) has become a common diagnostic procedure in adults. OBJECTIVE: The aim of this study was to retrospectively evaluate the efficacy and radiation exposure of low-dose CT-guided TLB in children with non-infectious IP of unknown origin. METHODS: Twelve children (7-males, age range: 7 months-15 years) with non-infectious IP of unknown origin and inconclusive clinical tests underwent CT-guided TLB with a 20-gauge biopsy instrument. A low-dose protocol with acquisition of single slices was used on a 16-row CT scanner: 80 kVp, 20 mAs, slice thickness 10 mm. Biopsy specimens were processed by standard histopathological and immunohistochemical techniques and effective doses were individually calculated. RESULTS: All biopsies were performed without major complications. Two children (17 %) developed a small pneumothorax/pulmonary haemorrhage that resolved spontaneously. A final diagnosis could be established in 9/12 patients (75 %) by CT-guided TLB. In 2 patients (17 %) the results of TLB were inconclusive; however, the clinical suspicion could be disproved. Open lung biopsy was performed in 1 patient (8 %), which demonstrated idiopathic pulmonary fibrosis. On average, the effective dose of CT-guided TLB was 0.78 mSv (0.4 - 1.1 mSv). CONCLUSION: Low-dose CT-guided TLB can be a helpful method for investigating children with non-infectious IP of unknown origin thus making open lung biopsy unnecessary. Application of a low-dose protocol leads to a significant reduction of radiation exposure in CT-guided TLB.

Prospective study of fever after bronchoalveolar lavage in children.

BACKGROUND: We investigated the significance of bronchoalveolar lavage fluid (BALF) characteristics and bacterial pathogens isolated in bronchoalveolar lavage fluids, oropharyngeal cultures and blood cultures for the development of fever in children after flexible bronchoscopy. METHOD: We studied 41 consecutive patients (age 4 months to 15 years), who underwent bronchoalveolar lavage (BAL) and 24 hours temperature monitoring. Two blood cultures of each patient drawn at two sites, oropharyngeal swabs, total cell counts, cell differentials and microbial cultures from lavage fluid were studied. RESULTS: Postbronchoscopic temperature increase was significantly higher in patients with positive BALF cultures (p = 0.04). Seven out of 41 patients had postbronchoscopic fever and positive bacterial cultures of BALF. Bacteraemia (with an identical pathogen isolated in BALF) was found in one febrile patient. There was a significantly higher total cell count (p = 0.03) and concentration of neutrophils (p = 0.001) in BALF among the children with presence of positive bacterial cultures. CONCLUSION: We conclude that fever is a frequent adverse event following BAL in children and is rarely associated with bacteraemia. Findings associated with the risk to develop fever are positive bacterial cultures and high neutrophil numbers in BALF.