What is CCHS?

CCHS stands for Congenital Central Hypoventilation Syndrome.  It is rare genetic condition which results in an abnormal development of the body's autonomic nerve system (which controls automatic functions like breathing) in early fetal life. The main consequence is a failure to automatically control breathing during sleep, and sometimes while awake.

CCHS affects the central and autonomic nervous system which controls many of the automatic functions in the body such as heart rate, blood pressure, sensing of oxygen and carbon dioxide levels in the blood, temperature, bowel and bladder control, and more. The most recognized symptom of CCHS is the inability to control breathing that varies in severity, resulting in the need for life-long ventilatory support during sleep in some patients or all the time in others.

WHAT ARE THE CAUSES?

CCHS is caused by a mutation (a change) in the PHOX2B gene. This mutation ultimately affects the autonomic nerve system, which is responsible for involuntary processes such as breathing and heart rhythm.

WHY IS CCHS SOMETIMES CALLED ONDINE´S CURSE?

This name comes from a German legend in which the nymph, Ondine, placed a curse on her unfaithful mortal husband, removing all his body’s automatic functions which forced him to remember to breathe. When he went to sleep, he stopped breathing. When early physicians saw CCHS babies stop breathing when asleep they coined the term Ondine’s Curse for the condition.

EPIDEMIOLOGY

Only a little more than 900 cases are known worldwide

TREATMENTS, TRANSITION

Individuals with CCHS cannot sense oxygen or carbon dioxide levels in their body. Ventilatory treatment is needed to optimize oxygenation and ventilation in these patients. Depending on the severity of CCHS, the degree of life-long ventilatory support can vary from sleep only to constant support. CCHS does not resolve spontaneously or improve with advancing age. Children with CCHS cannot be ‘‘trained’’ to breathe adequately, either. Drug interventions are currently unavailable to treat CCHS.


Webové stránky zdarma