Gupta Sanjay, Handa Kumud K, Kasliwal Ravi R, Bajpai Pankaj
Department of Internal Medicine, Medanta - The Medicity, Sector 38, Gurgaon, India.
Indian J Hum Genet. 2012 May;18(2):263-7. doi: 10.4103/0971-6866.100787.
Kartagener's syndrome is a very rare congenital malformation comprising of a classic triad of sinusitis, situs inversus and bronchiectasis. Primary ciliary dyskinesia is a genetic disorder with manifestations present from early life and this distinguishes it from acquired mucociliary disorders. Approximately one half of patients with primary ciliary dyskinesia have situs inversus and, thus are having Kartagener syndrome. We present a case of 12 year old boy with sinusitis, situs inversus and bronchiectasis. The correct diagnosis of this rare congenital autosomal recessive disorder in early life is important in the overall prognosis of the syndrome, as many of the complications can be prevented if timely management is instituted, as was done in this in this case.
卡塔格内综合征是一种非常罕见的先天性畸形,由鼻窦炎、内脏转位和支气管扩张这一典型三联征组成。原发性纤毛运动障碍是一种遗传性疾病,从早年就有表现,这使其有别于后天性黏液纤毛疾病。大约一半的原发性纤毛运动障碍患者有内脏转位,因此患有卡塔格内综合征。我们报告一例12岁男孩,患有鼻窦炎、内脏转位和支气管扩张。在早年正确诊断这种罕见的常染色体隐性遗传病对该综合征的总体预后很重要,因为如果能及时进行治疗,就像本病例这样,许多并发症是可以预防的。