De Jesús-Rojas Wilfredo, Reyes-De Jesús Dalilah, Mosquera Ricardo A
Department of Pediatrics, Medical Sciences Campus, School of Medicine, University of Puerto Rico, San Juan 00921, Puerto Rico.
Department of Pediatrics, Houston Medical School, University of Texas Health Science Center, Houston, TX 77030, USA.
Diagnostics (Basel). 2021 Feb 11;11(2):281. doi: 10.3390/diagnostics11020281.
Primary ciliary dyskinesia (PCD) is a rare, heterogeneous ciliopathy resulting in chronic oto-sino-pulmonary disease, bronchiectasis, newborn respiratory distress, and laterality defects. PCD diagnosis can be achieved by following diagnostic algorithms that include electron microscopy, genetics, and ancillary testing. Genetic mutations in more than 45 genes, including , can lead to PCD. mutations located on chromosome six, affect radial spokes and results in central complex apparatus abnormalities. The [c.921 + 3_6delAAGT] founder mutation was described as one cause of PCD without laterality defects in Puerto Rico. Additionally, there are further diagnostic challenges present in the Puerto Rican population to diagnose PCD. We describe the demographics, clinical features, and genetic variants in 13 patients with clinical PCD affecting 11 Puerto Ricans from unrelated families.
原发性纤毛运动障碍（PCD）是一种罕见的、异质性的纤毛病，可导致慢性耳-鼻-肺疾病、支气管扩张、新生儿呼吸窘迫和内脏反位缺陷。PCD的诊断可通过遵循包括电子显微镜检查、遗传学和辅助检查在内的诊断算法来实现。超过45个基因的基因突变，包括……，可导致PCD。位于6号染色体上的……突变，影响辐条并导致中央复合装置异常。[c.921 + 3_6delAAGT]始祖突变被描述为波多黎各无内脏反位缺陷的PCD的一个病因。此外，波多黎各人群在诊断PCD方面还存在进一步的挑战。我们描述了13例临床诊断为PCD的患者的人口统计学特征、临床特征和……基因变异，这些患者来自11个无亲缘关系的波多黎各家庭。
