Introduction
With an estimated incidence of one in 10,000–20,000 live births
worldwide [1], primary ciliary dyskniesia (PCD) is a rare inherited
autosomal recessive disease caused by impaired function of motile cilia,
resulting in recurrent respiratory inflammation, bronchiectasis,
sinusitis, otitis media, and
neonatal respiratory distress. Approximately 50% of patients have situs
inversus [2,8]. Besides the clinical features, nasal NO
concentration, high speed video microscopy analysis (HSVMA) of cilia
beat frequency and pattern, ciliary ultrastructure in cross section
through transmission electron microscopy (TEM) are all helpful for the
diagnosis of PCD[3]. Moreover, genetic testing can help to confirm
the diagnosis of PCD. The pathogenic mechanism of PCD is cilia motility
dysfunction, which depend on dynein arms composing of the outer dynein
arms (ODAs) and the inner dynein arms (IDAs). The gene of dynein
axonemal assembly factor 2 (DNAAF2), also known as KTU and PF13, has
been reported to encode the cytoplasmic proteins required for the
assembly of both ODAs and IDAs, lead to loss of cilia motility and cause
PCD[6]. In this paper, we report the clinical manifestations,
diagnosis and treatment processes of two siblings with PCD caused by the
same compound heterozygous mutations in DNAAF2, one of the mutations is
novel.