^

Health

A
A
A

CHARGE association

 
, medical expert
Last reviewed: 23.04.2024
 
Fact-checked
х

All iLive content is medically reviewed or fact checked to ensure as much factual accuracy as possible.

We have strict sourcing guidelines and only link to reputable media sites, academic research institutions and, whenever possible, medically peer reviewed studies. Note that the numbers in parentheses ([1], [2], etc.) are clickable links to these studies.

If you feel that any of our content is inaccurate, out-of-date, or otherwise questionable, please select it and press Ctrl + Enter.

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.

trusted-source[1], [2], [3], [4], [5]

Epidemiology of the CHARGE association

1 per 10,000 newborns.

trusted-source[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).

trusted-source[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).

trusted-source[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.

trusted-source

Использованная литература

You are reporting a typo in the following text:
Simply click the "Send typo report" button to complete the report. You can also include a comment.