ABSTRACT
Congenital central hypoventilation syndrome (CCHS) and rapid-onset obesity syndrome with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) are rare causes of hypoventilation during sleep in the pediatric population. This group of disorders are characterized by the absence or decrease in the automatic control of ventilation, decreased sensitivity of chemoreceptors to CO2, causing hypoventilation during sleep and even in wakefulness, in the most severe cases. For these reasons it is important to diagnose and treat them promptly. The objective of this review is to provide current and complete literature, to be able to identify, treat and refer this group of children early, and thus reduce the complications and/or associated comorbidities in the short and long term, improving their quality of life.
El síndrome de hipoventilación central congénita (CCHS) y síndrome de obesidad de inicio rápido con disfunción hipotalámica, hipoventilación y desregulación autonómica (ROHHAD), son causas poco comunes de hipoventilación durante el sueño en la población pediátrica. Este grupo de trastornos se caracterizan por ausencia o disminución en el control automático de la ventilación, sensibilidad disminuida de los quimioreceptores al CO2, provocando hipoventilación durante el sueño e incluso en vigilia, en los casos más severos. Por estas razones es importante diagnosticarlos y tratarlos oportunamente. El objetivo de esta revisión es proporcionar literatura actual y completa, para poder identificar, tratar y referir a éste grupo de niños tempranamente, y así disminuir las complicaciones y/o comorbilidades asociadas a corto y largo plazo, mejorando su calidad de vida.
Subject(s)
Humans , Child , Obesity Hypoventilation Syndrome/physiopathology , Sleep Wake Disorders/physiopathology , Hypoventilation/physiopathology , Obesity Hypoventilation Syndrome/complications , Prognosis , Respiration, Artificial , Sleep , Sleep Wake Disorders/diagnosis , Sleep Wake Disorders/etiology , Sleep Wake Disorders/therapy , Polysomnography , Hypoventilation/complications , Hypoventilation/congenital , Hypoventilation/diagnosis , Hypoventilation/therapyABSTRACT
Nocturnal hypoventilation is a common feature of disorders affecting the function of the diaphragm or central respiratory drive mechanisms. The ensuing change in gas exchange is initially confined to rapid eye movement (REM) sleep, but over time buffering of the raised carbon dioxide produces a secondary depression of respiratory drive that will further reduce ventilation not only during sleep but eventually during wakefulness as well. Failure to identify and treat nocturnal hypoventilation results in impairments in daytime function, quality of life and premature mortality. While some simple daytime tests of respiratory function can identify at risk individuals, these cannot predict the nature or severity of any sleep disordered breathing present. Nocturnal monitoring of gas exchange with or without full polysomnography is the only way to comprehensively assess this disorder, especially in the early stages of its evolution. Non invasive ventilation used during sleep is the most appropriate approach to reverse the consequences of nocturnal hypoventilation, although continuous positive airway pressure (CPAP) may be effective in those individuals where a significant degree of upper airway obstruction is present. When appropriately selected patients use therapy on a regular basis, significant improvements in quality of life, exercise capacity and survival can be achieved, irrespective of the underlying disease process.
Subject(s)
Carbon Dioxide/chemistry , Continuous Positive Airway Pressure , Humans , Hypoventilation/diagnosis , Hypoventilation/therapy , Lung Diseases/diagnosis , Obesity/complications , Polysomnography/methods , Quality of Life , Respiratory Insufficiency , Sleep Apnea Syndromes/diagnosis , Sleep Apnea Syndromes/therapy , Sleep, REM , Syndrome , Treatment OutcomeABSTRACT
As doenças neuromusculares prejudicam a renovação do ar alveolar e, por esta razão, produzem insuficiência respiratória crônica. A instalação da insuficiência respiratória pode acontecer de modo agudo, como nos traumas, ou ser lenta ou rapidamente progressiva, como na esclerose lateral amiotrófica, distrofias musculares, doença da placa mioneural, etc. O comprometimento da musculatura respiratória prejudica também a eficiência da tosse e, no estado atual da terapêutica disponível no Brasil para estes doentes, pode-se dizer que a morbimortalidade nestes indivíduos está mais associada ao fato de que eles tossem mal do que de que ventilam mal. Nesta revisão, uma breve compilação histórica procura mostrar a evolução das órteses e próteses respiratórias, desde o final do século XIX até agora, com o objetivo de apresentar as opções de máquinas disponíveis para o suporte e substituição da ventilação nas doenças neuromusculares. Além disso, são enfatizados os elementos fundamentais para o diagnóstico da hipoventilação alveolar e da falência do mecanismo protetor da tosse: história clínica, determinação do pico de fluxo da tosse, medida da pressão expiratória máxima e da pressão inspiratória máxima, espirometria em dois decúbitos (sentado e supino), oximetria de pulso, capnografia e polissonografia. São apresentados os valores limites disponíveis na literatura tanto para a indicação do suporte noturno da ventilação como para a extensão do suporte para o período diurno. As manobras para incremento da eficiência da tosse são aqui também discutidas, assim como o momento adequado para sua introdução.
Neuromuscular diseases affect alveolar air exchange and therefore cause chronic respiratory failure. The onset of respiratory failure can be acute, as in traumas, or progressive (slow or rapid), as in amyotrophic lateral sclerosis, muscular dystrophies, diseases of the myoneural junction, etc. Respiratory muscle impairment also affects cough efficiency and, according to the current knowledge regarding the type of treatment available in Brazil to these patients, it can be said that the high rates of morbidity and mortality in these individuals are more often related to the fact that they cough inefficiently rather than to the fact that they ventilate poorly. In this review, with the objective of presenting the options of devices available to support and substitute for natural ventilation in patients with neuromuscular diseases, we have compiled a brief history of the evolution of orthopedic braces and prostheses used to aid respiration since the end of the 19th century. In addition, we highlight the elements that are fundamental to the diagnosis of alveolar hypoventilation and of failure of the protective cough mechanism: taking of a clinical history; determination of peak cough flow; measurement of maximal inspiratory and expiratory pressures; spirometry in two positions (sitting and supine); pulse oximetry; capnography; and polysomnography. Furthermore, the threshold values available in the literature for the use of nocturnal ventilatory support and for the extension of this support through the daytime period are presented. Moreover, the maneuvers used to increase cough efficiency, as well as the proper timing of their introduction, are discussed.
Subject(s)
Humans , Neuromuscular Diseases/complications , Respiratory Insufficiency/etiology , Chronic Disease , Hypoventilation/diagnosis , Hypoventilation/therapy , Respiration, Artificial , Respiratory Insufficiency/diagnosis , Respiratory Insufficiency/therapy , Respiratory Muscles/physiopathology , Respiratory System/physiopathologyABSTRACT
La hipoventilación alveolar de instalación progresiva es la principal causa de morbimortalidad en pacientes con trastornos neuro-músculo-esqueléticos. El diagnóstico precoz y la intervención con ventilación no invasiva pueden restablecer la función respiratoria y prolongar la sobrevida. Con este propósito estudiamos la función respiratoria en vigilia y la saturación de pulso de oxigeno (Sp0 2 durante el sueño nocturno de 29 pacientes (20 hombres y 9 mujeres, edad = 8 a 80 años) portadores de enfermedades neuromusculares o esqueléticas en etapa estable. Los resultados mostraron una alteración restrictiva moderada (capacidad pulmonar total [CPT] = 74,4 ñ 27,0 por ciento, capacidad vital forzada [CVF] = 51,1 ñ 27,8 por ciento, presión máxima inspiratoria [PImáx] = -47,1 ñ 25,1 cm H2O, presión máxima espiratoria [PEmáx] = + 46,8 ñ 34,9 cm H2O) e hipoxemia leve en vigilia (PaO2 = 78,3 ñ 17,8 T y PaCO2 = 40,6 ñ 5,8 T). La desaturación de O2, durante el sueño mostró una amplia dispersión: tiempo con SpO2<90por ciento = 0 a 478 min (tiempo acumulado [TA] <90 por ciento = 0 a 99 por ciento del tiempo total de registro). En tres casos se confirmó por polisomnogrofía la asociación con apneas obstructivas del sueño. El TA < 90 por ciento se correlacionó negativamente con la PIM y la CVF independientemente del tipo de enfermedad. La presión arterial de anhídrido carbónico (PaCO2) elevada en vigilia fue el mejor predictor de desaturación durante el sueño. Se discuten los métodos y criterios de diagnóstico, con especial énfasis en la indicación de ventilación no invasiva a largo plazo
Subject(s)
Humans , Male , Female , Adolescent , Adult , Middle Aged , Respiratory Insufficiency/diagnosis , Neuromuscular Diseases/complications , Hypoventilation/diagnosis , Sleep Apnea Syndromes/diagnosisABSTRACT
Criança de 10 anos e 8 meses com obesidade mórbida, compulsiva, internada na emergência devido a insuficiência respiratória, cianose periférica, apnéia do sono, sonolência e hipertensäo arterial sistêmica. Controlados os sinais clínicos, mantinha sinais de obstruçäo respiratória alta. Após adenoamigdalectomia, persistia com cianose e episódios de dessaturaçäo de O2 no sono. A normalizaçäo da condiçäo respiratória só ocorreu lentamente, após perda de peso acentuada (25 por cento do peso inicial). A obesidade mórbida na criança deve ser abordada com rigor, devido aos graves rtiscos que pode acarretar