Primary ciliary dyskinesia: A neonatal disease?
نویسندگان
چکیده
In this volume of The Journal, Horani and Ferkol update our current understanding primary ciliary dyskinesia other ciliopathies. Although neonatologists may be tempted to bypass article, it is relevant newborn patients because function diseases are increasing importance in fetal development (eg, determination body laterality) neonatal illnesses. authors report that the majority infants with present early prolonged respiratory distress or laterality disorders. disorders readily apparent on radiographs, not yet clear how should think about these tachypneic ciliopathies rare tachypnea a very common problem infants. Most can recall unusual undetermined etiology. These good candidates for further research so we begin identify distinguishing clinical characteristics would allow targeted follow up diagnosis affected Article page 15 ▸ Understanding Primary Ciliary Dyskinesia Other CiliopathiesThe Journal PediatricsVol. 230PreviewCiliopathies collection related cilia dysfunction. Cilia specialized organelles project from surface most cells. Motile (sensory) essential structures have wide ranging functions. Our genetics, pathophysiology, manifestations motile ciliopathies, including (PCD), has rapidly advanced since disease was linked ultrastructural defects nearly 5 decades ago. We will provide an overview different types cilia, their role child health disease, focusing describe recent advances led improved diagnostics yield therapeutic targets restore structure function. Full-Text PDF
منابع مشابه
Primary ciliary dyskinesia and neonatal respiratory distress.
BACKGROUND AND OBJECTIVE Primary ciliary dyskinesia (PCD) is a rare inherited disease affecting motile cilia lining the respiratory tract. Despite neonatal respiratory distress as an early feature, diagnosis is typically delayed until late childhood. Our objective was to identify characteristics that differentiate PCD from common causes of term neonatal respiratory distress. METHODS This was ...
متن کاملPrimary ciliary dyskinesia: a cause of neonatal respiratory distress.
Primary ciliary dyskinesia (PCD) is a rare disorder associated with chronic respiratory problems and even more infrequently as a cause of neonatal respiratory distress. Of consecutive 12 children seen with a diagnosis of PCD, the disorder presented within the neonatal period in 11, with a positive family history in 50%. The diagnosis was delayed in several cases, despite suggestive radiological...
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Primary ciliary dyskinesia (PCD) is a rare genetic condition that affects the ciliary function of the respiratory tract, sperm tail, cilia of the embryonic node, and fallopian tube. The condition is characterized by impaired ciliary action, leading to recurrent lower-respiratory-tract infections, bronchiectasis, rhino-sinusitis, otitis media, impaired fertility in women, and infertility in men....
متن کاملPrimary Ciliary Dyskinesia
Primary ciliary dyskinesia (PCD) is caused by ultrastructural ciliary defects that lead to abnormal ciliary beating and, subsequently, mucociliary dysfunction. PCD presents clinically with bronchiectasis, sinusitis, and, in up to 50% of cases, situs inversus. The ultrastructural defects of cilia are diverse but include in many cases outer and/or inner dynein arms. Recent advances have shown tha...
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ژورنال
عنوان ژورنال: The Journal of Pediatrics
سال: 2021
ISSN: ['1085-8695', '0178-4919', '0022-3476', '1097-6833']
DOI: https://doi.org/10.1016/j.jpeds.2021.01.016