[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.

Ultrasound and colour Doppler in infantile subglottic haemangioma.

BACKGROUND: Subglottic haemangioma causes progressive and life-threatening stridor, typically manifesting at age 2-3 months. Standard diagnosis is by laryngoscopy. Larynx sonography is rarely used but allows assessment of the presence and extension of a mass that impinges on the subglottic airway. The additional use of colour Doppler enables demonstration of the vascular nature of such masses. OBJECTIVE: To compare US and endoscopic findings in infants with subglottic haemangioma and to evaluate accuracy of US and colour Doppler imaging in this diagnosis. MATERIALS AND METHODS: We report eight infants with subglottic haemangioma seen in our institution over the last decade. They presented with laryngeal stridor and were all investigated with both US and endoscopy. Six infants underwent colour Doppler sonography. RESULTS: US and endoscopic findings showed excellent anatomical correlation in lateral subglottic haemangioma. Colour Doppler imaging was deemed helpful in four infants. CONCLUSION: Larynx sonography with complementary colour Doppler imaging was non-invasive and helpful in the diagnosis of subglottic haemangioma.