CHARGE association

CHARGE (Coloboma, Heart defect, Atresia choanae, Retarded growth, Genital hypoplasia, Ear anomalies).

CHARGE-association - a symptom complex of congenital defects of the eyeball (colobomas), heart defects, atresia of the khohan, hypoplasia of the vulva and anomalies of the auricle in children with a delay in physical development.

[1], [2], [3], [4], [5]

Epidemiology of the CHARGE association

1 per 10,000 newborns.

[6], [7], [8], [9], [10], [11],

Causes of CHARGE-association

The disease is heterogeneous. Both dominant and recessive types of inheritance are noted. In 75% of cases it is possible to verify the specific mutation of the CHD7 gene (OMIM 608892).

[12], [13]

Symptoms of CHARGE-association

Atresia khohan is diagnosed from birth, it can be one-or two-sided - membranous or bone. Atresia of the khohan is the most frequent cause of respiratory disorders in this disease.

Congenital heart defects: open arterial duct, atrioventricular canal, tetralogy of Fallot, defects of the heart part and a right aortic arch with a vascular ring. In all newborns with atresia, the khohan should rule out congenital heart defects.

Approximately 80% of patients have colonies of the eyeball (iris or choroid), and retinal detachment can also be detected.

From surgical pathology: gastroesophageal reflux, congenital malformations of the kidneys (hypoplasia, doubling, cysts, hydronephrosis), vesicoureteral reflux. A high frequency of repeated fundoplications is known in surgical correction of gastroesophageal reflux in children.

Diagnosis of CHARGE-association

Three or more of the above inherited defects can diagnose the disease. In 75% of cases it is possible to verify the specific mutation of the CHU7 gene (OMIM 608892).

[14], [15], [16]

Treatment of CHARGE-association

Symptomatic treatment. Genetic counseling is shown.

Forecast

It is determined by the frequency and severity of congenital malformations.