Overcoming challenges in the management of primary ciliary dyskinesia: The UK model

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• 作者：Jane S. Lucas¹ ; ² ; ^{jlucas1@soton.ac.uk" class="auth_mail} ; Philip Chetcuti³ ; Fiona Copeland⁴ ; Claire Hogg⁵ ; Tom Kenny⁶ ; Eduardo Moya⁷ ; Christopher O&rsquo ; Callaghan⁸ ; ⁹ ; Woolf T. Walker¹ ; ²
• 关键词：Primary ciliary dyskinesia ; Co-ordinated care ; Multi-disciplinary team ; Equity of access
• 刊名：Paediatric Respiratory Reviews
• 出版年：June 2014
• 年：2014
• 卷：15
• 期：2
• 页码：142-145
• 全文大小：414 K

文摘

Primary ciliary dyskinesia (PCD) is an autosomal recessive disease associated with bronchiectasis, chronic rhinosinusitis, infertility and situs inversus. Estimates of prevalence vary widely, but is probably between 1:10,000- 1:40,000 in most populations. A number of observational studies indicate that access to services to diagnose and manage patients with PCD vary both between and within countries. Diagnosis is often delayed and frequently missed completely. The prognosis of patients with PCD is variable, but evidence suggests that it is improved by early diagnosis and specialist care. This article briefly reviews the literature concerning PCD and the evidence that specialist care will improve healthcare outcomes. The article specifically refers to a new national service in the UK.