Here I present: “Ciliary Dyskinesia“, Victor McKusick, Mendelian Inheritance in Man’, 1966.纖毛運動障礙。 icd10=Q34.8
INTRODUCTION.
Ciliary dyskinesia is an autosomal recessive genetic ciliopathy, that causes defects in the action of cilia lining the respiratory tract, sinuses, Eustachian tube, middle ear, fallopian tube, and flagella of sperm cells. The alternative name of “immotile ciliary syndrome” is no longer favored as the cilia do have movement, but are merely inefficient or unsynchronized. When accompanied by situs inversus the condition is known as Kartagener syndrome.
Ciliary dyskinesia is a genetically heterogeneous autosomal recessive disorder resulting from loss of function of different parts of the primary ciliary apparatus, most often dynein arms. Kartagener syndrome is characterized by the combination of ciliary dyskinesia and Situs Inversus, and occurs in approximately half of patients with ciliary dyskinesia. Since normal nodal ciliary movement in the embryo is required for normal visceral asymmetry, absence of normal ciliary movement results in a lack of definitive patterning; thus, random chance alone appears to determine whether the viscera take up the normal or reversed left-right position during embryogenesis. This explains why approximately 50% of patients, even within the same family, have Situs Inversus.
There is evidence that ciliary dyskinesia type-1 is caused by compound heterozygous mutation in the axonemal dynein (DNAI1) arms gene on cytogenetic location 9p13.3 and genomic coordinate 9:34,458,805. Axonemal dyneins are specialized microtubule-based motor proteins that power the beating of motile cilia and flagella by converting ATP into mechanical energy.
