Infant_Respiratory_distress_syndrome (surfactant deficiency syndrome)

Signs & Symptoms

Infant respiratory distress syndrome is characterized by diminished oxygen intake in the premature newborn. A clear membrane is found lining the alveolar (air cell) ducts in the lungs and is associated with reduced amounts of lung wetting agents or emulsifier (surfactant). The surfactant is a lipoprotein based on lecithin that stabilizes alveolar membranes. When this surfactant is missing, breathing is difficult and may lead to collapse of a lung. The affected infant must be placed on some type of ventilation, either mechanical or physical, in order to continue breathing.

Causes

Infant respiratory distress syndrome is caused by the absenteeism of a natural lung wetting agent (surfactant) in the immature lungs of infants. Since surfactant normally develops late in prenatal life it usually is not present in the very premature infant of about 26-36 weeks of gestational age. This can result in improper functioning of the alveoli (air cells) of the lungs causing breathing difficulties and collapsed lungs.

Surfactant protein-B (SP-B) deficiency is a rare type of infant respiratory distress syndrome caused by an abnormal pulmonary surfactant B gene. This type of infant respiratory distress syndrome follows autosomal recessive inheritance.

Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the defective gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25%. The risk is the same for males and females.

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