UNLABELLED: Age at diagnosis and the symptom history of children with primary ciliary dyskinesia (PCD) are described by reviewing the case notes in the paediatric PCD clinic. Mean age at diagnosis was 4.4 y despite a history of neonatal respiratory distress in 37/55 cases, situs inversus in 38/55 cases and early onset troublesome rhinitis in 42/55. CONCLUSION: Diagnosis of PCD is often delayed despite the presence of typical symptoms early in life. The key clinical features of unexplained neonatal respiratory distress, early onset rhinitis, situs inversus and a productive cough are highlighted, which, especially when occurring in combination, makes early referral for specific testing for PCD mandatory.
UNLABELLED: Age at diagnosis and the symptom history of children with primary ciliary dyskinesia (PCD) are described by reviewing the case notes in the paediatric PCD clinic. Mean age at diagnosis was 4.4 y despite a history of neonatal respiratory distress in 37/55 cases, situs inversus in 38/55 cases and early onset troublesome rhinitis in 42/55. CONCLUSION: Diagnosis of PCD is often delayed despite the presence of typical symptoms early in life. The key clinical features of unexplained neonatal respiratory distress, early onset rhinitis, situs inversus and a productive cough are highlighted, which, especially when occurring in combination, makes early referral for specific testing for PCD mandatory.
Authors: Nada Hornef; Heike Olbrich; Judit Horvath; Maimoona A Zariwala; Manfred Fliegauf; Niki Tomas Loges; Johannes Wildhaber; Peadar G Noone; Marcus Kennedy; Stylianos E Antonarakis; Jean-Louis Blouin; Lucia Bartoloni; Thomas Nüsslein; Peter Ahrens; Matthias Griese; Heiner Kuhl; Ralf Sudbrak; Michael R Knowles; Richard Reinhardt; Heymut Omran Journal: Am J Respir Crit Care Med Date: 2006-04-20 Impact factor: 21.405