关键词: Kartagener’s disease autosomal recessive cardiac dextrocardia dyskinesia genetics left-right laterality respiratory

Mesh : Humans Infant, Newborn Kartagener Syndrome / diagnosis therapy physiopathology complications Respiratory Distress Syndrome, Newborn / diagnosis etiology therapy Situs Inversus / diagnosis

来  源:   DOI:10.1891/NN-2023-0073

Abstract:
Respiratory distress in the newborn is associated with numerous etiologies, some common and some rare. When respiratory distress is accompanied by laterality defects, namely, situs inversus (SI), the index of suspicion for comorbid primary ciliary dyskinesia (PCD) should be raised. Primary ciliary dyskinesia is characterized by ciliary dysmotility and the accumulation of thick secretions in the airways that obstruct air and gas exchange. Neonatal clinicians should know that while PCD is definitively diagnosed in infancy or early childhood, findings suspicious for PCD should be communicated to primary care providers at discharge from the hospital to facilitate timely subspecialty involvement, diagnosis, and treatment. This article will present a case report of a term newborn with SI totalis who was later diagnosed with PCD. We will discuss epidemiology, pathophysiology, clinical manifestations, and diagnostics, followed by management strategies. Additionally, we discuss the outpatient needs and lifespan implications.
摘要:
新生儿呼吸窘迫与多种病因有关,一些常见的和一些罕见的。当呼吸窘迫伴有偏侧性缺陷时,即,situsinversus(SI),应提高合并原发性纤毛运动障碍(PCD)的怀疑指数.原发性纤毛运动障碍的特征是纤毛运动障碍和气道中浓稠分泌物的积累,阻碍了空气和气体交换。新生儿临床医生应该知道,虽然PCD在婴儿期或幼儿期被明确诊断,怀疑PCD的发现应在出院时传达给初级保健提供者,以促进及时的亚专科参与,诊断,和治疗。本文将介绍一例患有SItotalis的足月新生儿的病例报告,该新生儿后来被诊断为PCD。我们将讨论流行病学,病理生理学,临床表现,和诊断,其次是管理策略。此外,我们讨论门诊需求和寿命影响。
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