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Distúrbios respiratórios do sono nas crianças com Síndrome de Prader-Willi
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A Síndrome de Prader-Willi (SPW) é uma doença genética rara, resultante da perda de expressão da cópia paterna de uma região do cromossoma 15 (15q11.2-q13). Esta síndrome apresenta uma taxa de incidência de 1/10000 a 1/30000 nados-vivos, por ano, afeta igualmente ambos os sexos e tem prevalência semelhante em todas as raças.
O defeito do cromossoma 15 paterno conduz a uma disfunção hipotalâmica que se reflete em alterações de vários processos fisiológicos do desenvolvimento das crianças com SPW, conduzindo a problemas na alimentação, crescimento, maturação sexual, controlo da temperatura corporal, comportamento e sono.
De facto, nestas crianças, o sono encontra-se muitas vezes gravemente afetado por um vasto espectro de distúrbios respiratórios, resultando numa importante morbilidade e repercussão no quotidiano destes doentes.
Assim sendo, neste trabalho são aprofundadas as anomalias do controlo ventilatório e o seu impacto no sono das crianças com SPW. Esta abordagem pretende esclarecer a fisiopatologia dos distúrbios respiratórios do sono nesta população particular, bem como as suas consequências, diagnóstico e tratamento.
A associação da desregulação hipotalâmica com um conjunto de características fenotípicas desta síndrome tais como micrognatia, hipotonia muscular e obesidade, contribuem para alterações estruturais e funcionais ao nível da via aérea superior com consequentes anomalias no controlo ventilatório, as quais participam na fisiopatologia dos distúrbios respiratórios do sono destes doentes. A polissonografia constitui o exame de eleição para o diagnóstico e avaliação da gravidade dos distúrbios respiratórios do sono.
O pilar do tratamento da SPW é a hormona de crescimento, que se encontra deficitária nestes doentes devido à disfunção hipotalâmica que apresentam. No entanto, esta pode acelerar o crescimento dos tecidos linfóides com consequente hipertrofia adenoamigdalina exacerbadora da obstrução da via aérea superior. Portanto, o tratamento dos distúrbios respiratórios do sono nestas crianças passa muitas vezes pela adenoamigdalectomia.
Prader-Willi Syndrome (PWS) is a rare genetic disorder resulting from the lack of expression of a region of genes on the paternal chromosome 15 (15q11.2-q13). This Syndrome presents an incidence rate between 1/10000 and 1/30000, occur equally in both genders and has a similar prevalence in all races. This chromosomic defect leads to hypothalamic dysfunction that is reflected in changes of various physiological processes in the development of the children with PWS, leading to problems in feeding, growing and sexual maturation, control of the body temperature, behavior and sleeping. Indeed, for these children, sleep is often severely affected by a wide spectrum of respiratory disorders, resulting in significant morbidity and repercussions in their daily activities. Thus, in this thesis, the anomalies of ventilatory control and their impact on sleep of children with PWS are discussed. This approach aims to clarify the pathophysiology of sleep-disordered breathing in this particular population, as well as its consequences, diagnosis and treatment. The association of hypothalamic dysregulation with a set of phenotypic characteristics of this syndrome, such as micrognathia, muscular hypotonia and obesity, contribute to structural and functional alterations in the upper airways with consequent ventilatory control abnormalities, which participate in the pathophysiology of respiratory disorders of these patients. Polysomnography is the gold standard for the diagnosis and assessment of the severity of sleep-disordered breathing. The base of PWS treatment is the growth hormone, which is deficient in these patients due to their hypothalamic dysfunction. However, this hormone may accelerate the growth of lymphoid tissues with consequent adenotonsillar hypertrophy, then exacerbating upper airway obstruction. Therefore, the treatment of sleep-disordered breathing for these children often involves adenotonsillectomy.
Prader-Willi Syndrome (PWS) is a rare genetic disorder resulting from the lack of expression of a region of genes on the paternal chromosome 15 (15q11.2-q13). This Syndrome presents an incidence rate between 1/10000 and 1/30000, occur equally in both genders and has a similar prevalence in all races. This chromosomic defect leads to hypothalamic dysfunction that is reflected in changes of various physiological processes in the development of the children with PWS, leading to problems in feeding, growing and sexual maturation, control of the body temperature, behavior and sleeping. Indeed, for these children, sleep is often severely affected by a wide spectrum of respiratory disorders, resulting in significant morbidity and repercussions in their daily activities. Thus, in this thesis, the anomalies of ventilatory control and their impact on sleep of children with PWS are discussed. This approach aims to clarify the pathophysiology of sleep-disordered breathing in this particular population, as well as its consequences, diagnosis and treatment. The association of hypothalamic dysregulation with a set of phenotypic characteristics of this syndrome, such as micrognathia, muscular hypotonia and obesity, contribute to structural and functional alterations in the upper airways with consequent ventilatory control abnormalities, which participate in the pathophysiology of respiratory disorders of these patients. Polysomnography is the gold standard for the diagnosis and assessment of the severity of sleep-disordered breathing. The base of PWS treatment is the growth hormone, which is deficient in these patients due to their hypothalamic dysfunction. However, this hormone may accelerate the growth of lymphoid tissues with consequent adenotonsillar hypertrophy, then exacerbating upper airway obstruction. Therefore, the treatment of sleep-disordered breathing for these children often involves adenotonsillectomy.
Descrição
Trabalho Final do Curso de Mestrado Integrado em Medicina, Faculdade de Medicina, Universidade de Lisboa, 2020
Palavras-chave
Síndrome de Prader-Willi Distúrbios respiratórios do sono Hormona de crescimento Hipertrofia adenoamigdalina Adenoamigdalectomia Otorrinolaringologia