Galvanised by a respiratory distress diagnosis

• Published in: Archives of disease in childhood. Education and practice edition Vol. 93; no. 4; pp. 112 - 119
• Main Authors: Abdel-Latif, M E, Oei, J, Ward, M, Wills, E J, Tobias, V, Lui, K
• Format: Journal Article
• Language: English
• Published: England BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health 01.08.2008; BMJ Publishing Group LTD
• Subjects: ABC transporters; Age; Anesthesia; Antibiotics; Babies; Cardiovascular diseases; Central nervous system; Compliance; Congenital diseases; Deoxyribonucleic acid; Diagnosis, Differential; DNA; Fatal Outcome; Gallbladder diseases; Heart failure; Humans; Hyaline Membrane Disease - diagnosis; Hypertension; Inactivation; Infant, Newborn; Lung - pathology; Lung diseases; Male; Mechanics; Mental depression; Mutation; Newborn babies; Persistent Fetal Circulation Syndrome - diagnosis; Pneumonia; Pneumonia - diagnosis; Pneumothorax - diagnosis; Proteins; Pulmonary hypertension; Pulmonary Surfactant-Associated Protein B - deficiency; Respiratory diseases; Respiratory distress syndrome; Respiratory Distress Syndrome, Newborn - diagnosis; Respiratory Distress Syndrome, Newborn - etiology; Respiratory therapy; Surfactants; Transplants & implants; Urogenital system
• ISSN: 1743-0585; 1743-0593
• DOI: 10.1136/adc.2007.126227

System/disease Mechanism of respiratory distress Pulmonary parenchymal diseases Hyaline membrane disease Transient surfactant deficiency, decreased lung compliance with end expiratory collapse and V/Q mismatch Surfactant protein and transport protein deficiency Decreased lung compliance Transient tachypnoea of the newborn Retained fetal lung fluids Meconium aspiration Mechanical obstruction, inflammation, PPHN, surfactant inactivation Alveolar capillary dysplasia Decreased lung compliance, PPHN Interference with pulmonary mechanics Pneumothorax Mechanical interference with pulmonary mechanics Pleural effusion (eg, chylothorax) Mechanical interference with pulmonary mechanics Pulmonary haemorrhage Mechanical interference with pulmonary mechanics, surfactant inactivation Congenital diaphragmatic hernia Pulmonary hypoplasia, PPHN Pulmonary hypoplasia Decreased lung compliance, PPHN Congenital pulmonary lymphangiectasia Decreased lung compliance, lymphoedema Cardiovascular Congenital heart disease Right-to-left shunt (eg, d-transposition), poor cardiac output (eg, hypoplastic left heart) PPHN Pulmonary hypertension with right-to-left shunt Anaemia Shock (acute) or congestive heart failure (chronic) Polycythaemia PPHN Neurological Perinatal asphyxia (apnoea, cerebral oedema, CNS depression, seizure cerebral haemorrhage) Drugs (maternal narcotics or general anaesthesia) Hypoventilation, apnoea Neuromuscular disorders (neonatal myasthenia, Hypotonia, hypoventilation, PPHN congenital spinal atrophy) Infectious Pneumonia (including atypical pneumonias) Inflammation, PPHN, ARDS Metabolic Hypoglycaemia CNS depression, congestive heart failure ARDS, acute respiratory distress syndrome; CNS, central nervous system; PPHN, persistent pulmonary hypertension of the newborn. SP-B deficiency SP-C disease ABCA3 deficiency Age of onset Birth Birth-adulthood Birth-childhood Inheritance Recessive Dominant/sporadic Recessive Mechanism Loss of function Gain of function or dominant negative Loss of function Natural history Lethal Variable Often lethal, may be chronic Diagnosis Biochemical (tracheal aspirate) Absence of SP-B and presence of aberrant proSP-C None None Genetic (DNA) Sequence SFTPB Sequence SFTPC Sequence ABCA3 Ultrastructural (lung Disorganised lamellar May have cytoplasmic dense Small, dense lamellar bodies biopsy - EM) bodies aggregates Treatment Lung transplant or compassionate care Supportive care, lung transplantation if progressing Consider lung transplantation ABCA3, ATP-binding cassette transporter protein member A3; DNA, deoxyribonucleic acid; EM, electron micrograph; SFTP, surfactant protein gene; SP, surfactant protein.