Journal of Interdisciplinary Genomics

유전의학융합회 (Interdisciplinary Society of Genetic & Genomic Medicine)
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A Heterogeneous Genetic Disorder: Primary Ciliary Dyskinesia

  • Ahn, Ji Young (Department of Pediatrics, Yeungnam University College of Medicine)
  • 투고 : 2022.03.06
  • 심사 : 2022.04.01
  • 발행 : 2022.04.30
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초록

Primary ciliary dyskinesia (PCD) is a genetic disorder that affects approximately 1 in 15,000-30,000 people, with the majority of patients inheriting the disorder via autosomal recessive inheritance. PCD is characterized by abnormal ciliary ultrastructure and/or function, which results in impaired mucociliary clearance and recurrent respiratory infections. Despite the presence of symptoms from birth, many patients with PCD remain undiagnosed until adulthood. Many advances in the diagnosis of PCD have occurred in recent years, including nasal nitric oxide assays, ciliary motility tests, and genetic sequencing. Early diagnosis and symptom management may reduce morbidity and mortality from PCD improving the patient's quality of life.

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참고문헌

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