RESUMEN
Congenital central hypoventilation syndrome (CCHS) is a rare and sporadic neurocristopathy characterized by alveolar hypoventilation and autonomic nervous system dysfunction. CCHS manifests quickly after birth, initially as respiratory distress. Mortality risk is estimated at 38 percent, with a median age of death of three months of age. A timely and accurate diagnosis is critical. Genetic testing for PHOX2B gene mutations is necessary to confirm the diagnosis; however, laboratory turnaround time often imposes an additional 7-14-day waiting period on an often anxious family. Neonatal clinicians should recognize that families require disease-specific education, emotional support, and time to rehearse daily caregiving in preparation for discharge. Therefore, this article presents the key clinical, pathophysiologic, and diagnostic factors, as well as a discussion of discharge needs. A case report of an infant, born to parents with no known history of CCHS, is included as a case-based learning opportunity for readers.
Asunto(s)
Hipoventilación/congénito , Enfermería Neonatal/educación , Enfermería Neonatal/normas , Personal de Enfermería en Hospital/educación , Guías de Práctica Clínica como Asunto , Apnea Central del Sueño/diagnóstico , Apnea Central del Sueño/enfermería , Apnea Central del Sueño/fisiopatología , Adulto , Femenino , Humanos , Hipoventilación/diagnóstico , Hipoventilación/genética , Hipoventilación/enfermería , Hipoventilación/fisiopatología , Lactante , Recién Nacido , Masculino , Persona de Mediana Edad , Apnea Central del Sueño/genéticaRESUMEN
Congenital central hypoventilation syndrome (CCHS) is a relatively rare, life-threatening, and lifelong multisystem disorder characterized by autonomic nervous system dysfunction, which mostly manifests as failure to maintain ventilatory homeostasis during sleep. Infants with CCHS have inadequate sensitivity to hypoxia and hypercapnia during sleep and in some cases during wakefulness, leading to persistent apnea. This article reports a case of CCHS in a 38-week-gestation infant who presented on day of life 2 with persistent apnea. Diagnosis of primary pulmonary, cardiac, metabolic, neurologic disease, or injury was excluded before the diagnosis of CCHS was made. The diagnosis was confirmed by a PHOX2B sequence analysis. A tracheotomy was performed and the infant was discharged home on a home ventilator with outpatient follow-up. The clinical presentation of CCHS, as well as diagnosis and treatment strategies, is reviewed.
Asunto(s)
Hipoventilación/congénito , Apnea Central del Sueño/diagnóstico , Diagnóstico Diferencial , Femenino , Proteínas de Homeodominio/genética , Humanos , Hipoventilación/diagnóstico , Hipoventilación/genética , Hipoventilación/enfermería , Hipoventilación/terapia , Recién Nacido , Análisis de Secuencia , Apnea Central del Sueño/genética , Apnea Central del Sueño/enfermería , Apnea Central del Sueño/terapia , Traqueotomía , Factores de Transcripción/genética , Resultado del Tratamiento , Ventiladores MecánicosRESUMEN
Chronic hypoventilation syndrome can be caused by many disease states, although it is more commonly seen in neuromuscular disorders. Assessment of hypoventilation includes measurement of carbon dioxide level, respiratory muscle strength, pulmonary function testing, and any other system involved, such as cardiac dysfunction or sleep abnormalities. Often, chronic hypoventilation is initially diagnosed during an episode of acute respiratory failure. The use of noninvasive ventilation with positive pressure, negative pressure, or gravitational devices can be an effective treatment option for some patients, thus obviating the need for a tracheostomy. Noninvasive ventilatory equipment such as the nasal or oral masks, mouthpieces, bi-level positive airway pressure, chest cuirasses, ponchos, or the iron lung, and the rocking bed or pneumobelt can each ventilate a certain type of patient adequately. Each has specific indications, advantages, and disadvantages and must be individualized to the patient's needs.