Dubin-Johnson syndrome is an autosomal recessive condition that is caused by a mutation of the MRP2 channel, which transports conjugated bilirubin into the bile canaliculi. It results in conjugated hyperbilirubinaemia. It is typically asymptomatic and usually presents in teenage years…
Criggler-Najjar syndrome is caused by a deficiency or absence of UDP-glucuronosyltransferase (UGT1A1), which leads to unconjugated hyperbilirubinaemia. Types of Criggler-Najjar Syndrome Type Description Criggler-Najjar Type I Absence of UGT1A1, resulting in inability to conjugate bilirubin (Indirect hyperbilirubinemia). It does not…
ABO incompatibility is caused by maternal anti-ABO antibodies attacking fetal RBCs, causing hemolysis. It is more common, but less severe than Rh incompatibility – the majority of cases are clinically undetectable. 20% of all pregnancies are of a type O…
Rhesus incompatibility results from maternal anti-Rh antibodies binding to fetal RBCs, causing hemolysis. It ranges from moderate hemolytic anaemia to hydrops fetalis (stillbirth) Definition of terms Term Definition Erythroblastosis fetalis This is a life-threatening anaemia due to severe hemolysis. It…
Croup, also known as laryngotracheobronchitis, is an inflammation of the tracheobronchial airway. It has a more severe presentation, particularly in young infants who have a narrower airway. Croup accounts for up to 15% of pediatric URTI Emergency Department visits. It…
Laryngitis is inflammation of the larynx.
Bacterial tracheitis is a diffuse infection and inflammation of the larynx, trachea, and bronchi. It may have a similar presentation as croup – a barking cough, stridor, and fever in a patient who is under 3 years of age –…
Hypoxic-ischaemic encephalopathy (HIE) is a serious neurological condition that is caused by inadequate cerebral oxygen supply (asphyxiation). It is commonly associated with perinatal asphyxia, but can also be caused by severe systemic hypoxia and cardiac arrest (in adults). HIE is…
Apnoea of prematurity is a developmental disorder of respiratory control that occurs in preterm infants born at < 34 weeks’ gestational age. Apnoea of prematurity is defined as: Its prevalence is inversely related to gestational age. At < 28 weeks,…
Persistent pulmonary hypertension of the newborn (PPHN) is characterized by failure of normal pulmonary vascular transition at birth, leading to increased pulmonary vascular resistance, right-to-left shunting, and severe hypoxaemia despite adequate ventilation. Types of persistent pulmonary hypertension of the newborn…