Isa Hasan M, Alkharsi Fatema A, Busehail Maryam Y, Haider Fayza
Department of Pediatrics, Arabian Gulf University, Manama, BHR.
Department of Pediatrics, Salmaniya Medical Complex, Manama, BHR.
Cureus. 2022 Dec 26;14(12):e32964. doi: 10.7759/cureus.32964. eCollection 2022 Dec.
Primary ciliary dyskinesia (PCD) is a rare autosomal recessive genetic disorder. It is caused by a defect in the action of the cilia lining multiple organs of the body, including the lungs, the sinuses, hepatobiliary and reproductive organs. In general, the estimated prevalence of this condition is one in 15,000-20,000 individuals. It is characterized by the triad of chronic sinusitis, bronchiectasis, and situs inversus, which occurs in 50% of the cases. It can be associated with other diseases too. Genetic studies can aid in confirming the diagnosis of this condition. A high degree of suspicion about PCD among pediatricians, neonatologists, otorhinolaryngologists, and pulmonologists is essential to make early referrals of patients before they develop irreversible lung damage. Hence, early diagnosis and appropriate treatment are very important. Multicenter collaborations might improve the quality of treatment and patient outcomes. Here, we discuss a case of PCD with a unique association with type IIIb jejunal atresia, and developmental delay secondary to vitamin B12 deficiency. Moreover, the patient was found to have a novel gene mutation in a compound heterozygous state. This is the first case of this rare disease to be reported from Bahrain. This case report is also associated with an extensive literature review.
原发性纤毛运动障碍（PCD）是一种罕见的常染色体隐性遗传病。它是由身体多个器官（包括肺、鼻窦、肝胆和生殖器官）内衬的纤毛运动缺陷引起的。一般来说，这种疾病的估计患病率为15000-20000人中1例。其特征为慢性鼻窦炎、支气管扩张和内脏转位三联征，见于50%的病例。它也可能与其他疾病相关。基因研究有助于确诊此病。儿科医生、新生儿科医生、耳鼻喉科医生和肺科医生对PCD保持高度怀疑，对于在患者发生不可逆肺损伤之前尽早转诊至关重要。因此，早期诊断和适当治疗非常重要。多中心合作可能会改善治疗质量和患者预后。在此，我们讨论一例PCD病例，该病例与IIIb型空肠闭锁以及维生素B12缺乏继发的发育迟缓存在独特关联。此外，该患者被发现存在一种新的复合杂合状态的基因突变。这是巴林报告的首例这种罕见疾病。本病例报告还伴有广泛的文献综述。
