RESUMO
Rhizomelic chondrodysplasia punctata (RCDP) is a rare genetic peroxisome biogenesis disorder with a reported incidence of 1 in 100 000 live births. The 3 genetic subtypes of RCDP are acquired by an autosomal recessive inheritance pattern. RCDP type 1 accounts for greater than 90% of all aggregate cases. Differentiating between the 3 subtypes of RCDP, as well as disorders characterized by similar punctate cartilaginous changes, is essential to guide an appropriate postnatal plan of care. Management strategies are focused toward associated clinical manifestations and require an interdisciplinary approach including ophthalmology, cardiovascular, endocrine, physical and occupational therapy, and neurology. Purposeful and frequent collaboration among all members of the neonatal/pediatric interdisciplinary team is necessary to optimize outcomes for the neonate and the family unit. The purpose of this article is to anticipate the needs of both patients with known and prenatal diagnosis of RCDP type 1 and patients with suspected clinical diagnosis of RCDP type 1 in the immediate neonatal period and to guide the appropriate plan of care. This article presents a case report of type I RCDP, as well as describes genetic influences, symptoms, diagnosis, management, and prognosis.
Assuntos
Condrodisplasia Punctata Rizomélica/genética , Condrodisplasia Punctata Rizomélica/terapia , Predisposição Genética para Doença , Adulto , Índice de Apgar , Cesárea , Condrodisplasia Punctata Rizomélica/diagnóstico por imagem , Terapia Combinada , Feminino , Humanos , Recém-Nascido , Masculino , Receptor 2 de Sinal de Orientação para Peroxissomos/deficiência , Gravidez , Diagnóstico Pré-Natal , PrognósticoRESUMO
Although apnea is common in premature babies, there is a paucity of information concerning the pathophysiologic basis of these episodes and their relationship to other perinatal conditions such as hyperbilirubinemia. Unconjugated hyperbilirubinemia in premature infants, even in moderately high levels, may cause encephalopathy affecting brainstem functions and has been linked to increased incidence of apnea in these infants. Thus, there is a need to clarify mechanisms by which bilirubin may alter respiratory control and induce apnea of prematurity. In this study, bilirubin or placebo was infused i.v. in 9-d-old rat pups (n = 36). Serum hyperbilirubinemia peaked in the first hours after bilirubin infusion. Twenty-four hours after bilirubin infusion, respiration was recorded by plethysmography at rest and under hypercapnic and hypoxic conditions. In treated pups, minute ventilation in room air was significantly reduced, hyperventilatory response to CO2 was blunted, and hypoxic ventilatory depression was increased, compared with placebo-injected rat pups. Brainstem bilirubin deposition and immunoreactivity to bilirubin was detected in the brainstem on histologic analysis. We speculate that high serum bilirubin levels may cause prolonged inhibition of brainstem autonomic function and that this could underlie the exacerbation of apnea noted in premature babies who have experienced jaundice.
Assuntos
Bilirrubina/efeitos adversos , Tronco Encefálico/fisiopatologia , Hiperbilirrubinemia/induzido quimicamente , Hiperbilirrubinemia/fisiopatologia , Fenômenos Fisiológicos Respiratórios , Animais , Animais Recém-Nascidos , Apneia/fisiopatologia , Bilirrubina/metabolismo , Modelos Animais de Doenças , Relação Dose-Resposta a Droga , Hipercapnia/fisiopatologia , Hipóxia/fisiopatologia , Bulbo/metabolismo , Ventilação Pulmonar/fisiologia , Ratos , Ratos Sprague-Dawley , Albumina Sérica/metabolismoRESUMO
We used a rat pup model to delineate whether mechanical ventilation of
Assuntos
Resistência das Vias Respiratórias , Pulmão/fisiologia , Respiração Artificial/métodos , Resistência das Vias Respiratórias/efeitos dos fármacos , Animais , Animais Recém-Nascidos , Broncoconstritores/administração & dosagem , Feminino , Intubação Intratraqueal , Pulmão/química , Pulmão/citologia , Complacência Pulmonar , Cloreto de Metacolina/administração & dosagem , Miosinas/análise , Gravidez , RatosRESUMO
The in-hospital management of infants with BPD includes minimizing the duration of mechanical ventilation and avoiding the use of high inspired oxygen concentrations while maintaining adequate oxygenation. Fluid restriction, bronchodilators, and diuretic therapy can improve lung function and reduce the need for supplemental oxygen and high ventilator settings, but do not change the ultimate course of these infants. Corticosteroids also improve lung function and accelerate weaning from oxygen and mechanical ventilation, but their use during the first weeks of life is associated with worse neurological outcome. Adequate nutrition plays an important role in lung injury protection and recovery. Infants with severe BPD frequently develop pulmonary hypertension and may benefit from the use of pulmonary vasodilators. Outpatient management must be carefully planned and carried out by experienced multidisciplinary teams. Social and financial issues must be addressed with the family and caregivers. Home oxygen and mechanical ventilation therapy are used frequently after discharge and require specialized staff and equipment. Maintenance of oxygenation and proper nutritional support are critical aspects in the post-discharge management of these infants. Immunizations and RSV prevention are also important to prevent infections in these vulnerable immunocompromised patients.