ABSTRACT
Congenital Central Hypoventilation Syndrome (CCHS) is a rare genetic condition affecting the autonomic nervous system and respiratory center due to mutations in the PHOX2B gene, and it is associated with alveolar hypoventilation during sleep and sudden death. It requires early invasive mechanical ventilation (IMV). OBJECTIVE: To report a neonatal case successfully treated with non-invasive ventilatory support (NVS), avoiding tracheostomy. CLINICAL CASE: Full-term newborn, whose mother uses nocturnal NVS due to CCHS. During the transition period, she presented desaturations associated with hypercapnia and respiratory acidosis, without pulmonary involvement. She developed severe hypoventilation during sleep, with no respiratory effort, peripheral oxygen saturation (SpO2) < 80%, plus respiratory acidosis. While awake, she had good respiratory effort and normal SpO2 without assistance. Noninvasive continuous positive airway pressure and oxygen therapy worsened her condition while sleeping. Complete NVS with nasal interface and bi-level airway positive pressure, inspiratory/expiratory pressure 14-16/4 cm H2O, normalized SpO2 during sleep, and arterial blood gases while awake. Sequencing of the PHOX2B gene confirmed the presence of a heterozygous pathogenic variant with the 20/26 genotype. At 2 months of age, she was discharged maintaining NVS with nasal interface and 0 PEEP, achieving adequate neurodevelopment. CONCLUSION: We highlight the importance of genetic diagnosis of CCHS in neonates with clinical presentation of early alveolar hypoventilation, especially if there is a family history. We are not aware of other reports of neonatal onset in which NVS prevents IMV, in this potentially lethal pathology.
Subject(s)
Homeodomain Proteins , Hypoventilation , Sleep Apnea, Central , Transcription Factors , Humans , Sleep Apnea, Central/diagnosis , Sleep Apnea, Central/therapy , Sleep Apnea, Central/genetics , Infant, Newborn , Hypoventilation/congenital , Hypoventilation/therapy , Hypoventilation/diagnosis , Hypoventilation/genetics , Female , Homeodomain Proteins/genetics , Transcription Factors/genetics , Noninvasive Ventilation , Continuous Positive Airway Pressure , Acidosis, Respiratory/diagnosis , Acidosis, Respiratory/therapy , Acidosis, Respiratory/etiology , Mutation , Oxygen Inhalation TherapyABSTRACT
Acute kidney injury (AKI) is associated with electrolyte and acid-base disturbances such as hyperkalemia, metabolic acidosis, hypocalcemia and hyperphosphatemia. The initiation of dialysis in AKI can efficiently treat these complications. The choice of dialysis modality can be made based on their operational characteristics to tailor the therapy according to the clinical scenario. Each dialysis modality can also trigger significant electrolyte and acid-base disorders, such as hypokalemia, hypophosphatemia and metabolic alkalosis, which may direct changes in fluid delivery and composition. Continuous techniques may be particularly useful in these situations as they allow more time for correction and to maintain balance. This review provides an overview of the electrolyte and acid-base disturbances occurring in AKI and after the initiation of dialysis and discusses therapeutic options in this setting.
Subject(s)
Acid-Base Imbalance/etiology , Acid-Base Imbalance/therapy , Acute Kidney Injury/complications , Acute Kidney Injury/therapy , Renal Replacement Therapy/methods , Water-Electrolyte Imbalance/etiology , Water-Electrolyte Imbalance/therapy , Acidosis, Respiratory/etiology , Acidosis, Respiratory/therapy , Alkalosis, Respiratory/etiology , Alkalosis, Respiratory/therapy , Anticoagulants/therapeutic use , Citrates/therapeutic use , HumansABSTRACT
Devices such as Novalung can be used as a bridge to lung transplantation while waiting for a suitable donor. We report a 50 year-old male with a terminal pulmonary fibrosis and candidate for lung transplantation. He was admitted to the hospital due to a severe deterioration of his respiratory condition, with the presence of severe respiratory acidosis despite conventional invasive respiratory support. Respiratory support with Novalung was started, resulting in a progressive reduction of pCO2 that became normal ten hours after the installation of the device. Five days later a successful lung transplantation was performed.
Subject(s)
Acidosis, Respiratory/therapy , Extracorporeal Membrane Oxygenation/instrumentation , Lung Transplantation , Preoperative Care/instrumentation , Humans , Male , Middle Aged , Waiting ListsABSTRACT
Devices such as Novalung® can be used as a bridge to lung transplantation while waiting for a suitable donor. We report a 50 year-old male with a terminal pulmonary fibrosis and candidate for lung transplantation. He was admitted to the hospital due to a severe deterioration of his respiratory condition, with the presence of severe respiratory acidosis despite conventional invasive respiratory support. Respiratory support with Novalung® was started, resulting in a progressive reduction ofpCOz that became normal ten hours after the installation of the device. Five days later a successful lung transplantation wasperformed.
Subject(s)
Humans , Male , Middle Aged , Acidosis, Respiratory/therapy , Extracorporeal Membrane Oxygenation/instrumentation , Lung Transplantation , Preoperative Care/instrumentation , Waiting ListsABSTRACT
Objetivo: Revisar as bases teóricas da manutenção do equilíbrio ácido-básico, a fisiopatologia dos principais distúrbios e sua terapêutica na criança. Métodos: Foram obtidas referências em artigos recentes de revisão e arquivos pessoais através de busca computadorizada na Biblioteca Nacional de Medicina(Medline). Resultados: Distúrbios ácido-básico são freqüentemente encontrados em pacientes criticamente doentes. Sua fisiopatologia e principais causas são umcomplexo e multifatorial. O tratamento deve ser ajustado para cada distúrbio e sua causa de base. Freqüentemente requer correção agressiva e monitorização contínua. Conclusões: O entendimento da fisiologia do equilíbrio ácido-básico bem como a compreesão da fisiopatologia dos principais distúrbios associados às situações clínicas representam um desafio para o pediatra. Seu manejo requer intervenção adequada e cuidadosa
Subject(s)
Humans , Child , Acidosis, Respiratory/etiology , Acidosis, Respiratory/therapy , Acidosis, Renal Tubular , Alkalosis , Acid-Base Imbalance , Acid-Base Equilibrium , Renal Insufficiency , Alkalosis, RespiratoryABSTRACT
Os autores discutem brevemente os mecanismos patofisiologicos das causas mais frequentes da hipoxia e acidose fetal intraparto, ou seja, a reducao da perfusao utero-placentaria e feto placentaria decorrentes principalmente da hiperatividade uterina e/ou compressao funicular. Tres metodos diagnosticos da hipoxia fetal intraparto sao abordados: a amnioscopia, cardiotocografia e a pHmetria do sangue no couro cabeludo fetal. Concluem que a pHmetria apresenta os melhores resultados em sensibilidade, especifidade e valores preditivos. O seu emprego na obstetricia atual e limitado pela falta de condicoes do seu uso de maneira continua, tornando-a um metodo complementar da cardiotocografia continua intraparto. E apresentado pelos autores um esquema de aplicacao pratica combinada dos tres metodos acima citados na vigilancia do bem estar fetal no trabalho de parto. A principal terapeutica da hipoxia fetal intraparto e a rapida interrupcao do parto, por intervencao obstetrica adequada ao periodo do trabalho de parto. Novos metodos como tocolise e amnioinfusao podem melhorar os resultados perinatais e ajudar a diminuir a incidencia de casareas.
Subject(s)
Humans , Acidosis, Respiratory/etiology , Prenatal Diagnosis , Fetal Hypoxia/diagnosis , Acidosis, Respiratory/diagnosis , Acidosis, Respiratory/therapy , Fetal Hypoxia/etiology , Fetal Hypoxia/therapy , Fetal Monitoring , Fetus/chemistry , Fetus/metabolismSubject(s)
Humans , Middle Aged , Aged , Male , Female , Bronchitis/therapy , Tuberculosis, Pulmonary/therapy , Homeopathy , Water-Electrolyte Imbalance/therapy , Acidosis, Respiratory/therapy , Carbo Vegetabilis/therapeutic use , Antimonium Tartaricum/therapeutic use , Pulsatilla nigricans/therapeutic useABSTRACT
Las crisis de asma bronquial usualmente pueden ser moderadas o severas y ocasionalmente pueden amenazar la vida y ser fatales. Aunque los principios fisiopatológicos y terapéuticos son aplicables a las diferentes formas de presentación, debera realizarse una distinción importante en el manejo de las crisis severas y de las status asmaticus. En el presente trabajo se presenta la experiencia de los autoresw en el manejo del status asmaticus en la Unidad de Cuidados Intensivos del Hospital Universitario de Caracas y aportan elementos de discusión y estrategias que contribuyen al establecimiento de criterios uniformes en la definición y manejo del status asmaticus
Subject(s)
Infant , Child, Preschool , Child , Adolescent , Adult , Middle Aged , Humans , Male , Female , Asthma/diagnosis , Asthma/therapy , Respiratory Insufficiency/therapy , Acidosis, Respiratory/therapy , Bronchial Spasm/therapySubject(s)
Acid-Base Imbalance/therapy , Cardiac Surgical Procedures/adverse effects , Acidosis, Lactic/etiology , Acidosis, Respiratory/therapy , Adolescent , Adult , Alkalosis, Respiratory/therapy , Child, Preschool , Diuretics/therapeutic use , Dopamine/therapeutic use , Female , Humans , Respiration, ArtificialABSTRACT
Exchange transfusion, as a form of therapy, was contrasted with the use of fresh frozen plasma or conventional supportive care alone in the management of 19 infants with birth weights of less than 1,000 gm, without severe respiratory distress, and in the management of 82 infants, birth weights less than 2,000 gm, with severe respiratory distress whose disease manifested itself within the first 24 hours of life. Survival for more than five days was similar, regardless of therapy, in infants weighing less than 1,000 gm without severe RDS. In contrast, the use of exchange transfusion significantly decreased the case fatality rate of infants with severe RDS. In the groups receiving exchange transfusion, the mortality rate was 41%, whereas the groups receiving either plasma or supportive care alone the mortality was 80%. Study of coagulation factors and red cell concentrations of fetal hemoglobin and of 2,3-DPG failed to demonstrate any relationship between either improvement in coagulation or oxygen unloading and the improved survival of infants receiving exchange transfusion. Following exchange transfusion there was a significant decrease in the ratio of FIO2 to PaO2, suggesting that pulmonary perfusion and/or ventilation was improved by the procedure.