1. Hereditary surfactant protein B deficiency resulting from a novel mutation
- Author
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Somaschini, M., Wert, S., Mangili, G., Colombo, A., and Nogee, L.
- Subjects
Gene mutations -- Complications and side effects ,Protein deficiency -- Risk factors ,Protein deficiency -- Diagnosis ,Protein deficiency -- Case studies ,Infants (Newborn) -- Diseases ,Infants (Newborn) -- Risk factors ,Infants (Newborn) -- Diagnosis ,Infants (Newborn) -- Case studies ,Health care industry - Abstract
Byline: M. Somaschini (1), S. Wert (2), G. Mangili (1), A. Colombo (1), L. Nogee (3) Keywords: Key words Respiratory distress syndrome; Congenital pulmonary alveolar proteinosis; Surfactant protein B deficiency Abstract: Hereditary surfactant protein B (SP-B) deficiency is an autosomal recessive disease in which affected infants are unable to produce normally functional surfactant, resulting in neonatal respiratory failure and death within the first year of life. The most common cause of SP-B deficiency is a frameshift mutation in exon 4 (121ins2) of the SP-B gene. We report a newborn infant who had onset of respiratory distress during the first days, was unresponsive to exogenous surfactant, corticosteroids, prostacyclin, high frequency oscillatory ventilation and inhaled nitric oxide, and died after 27 days. Immunostaining of lung tissue obtained at biopsy demonstrated absent staining for SP-B, and robust extracellular staining for proSP-C, findings characteristic for SP-B deficiency. DNA analysis revealed the 121ins2 mutation on one of her SP-B alleles and a novel mutation, 122delC, on her other SP-B allele. The proximity of the novel mutation in exon 4 allele found in this infant to the 121ins2 supports the notion that this region may represent a 'hot spot' for SP-B gene mutations and confirms the heterogeneity of mechanisms which lead to SP-B deficiency.APHereditary SP-B deficiency is a rare, newly diagnosable and probably under-recognized disease, which should be suspected in term newborn infants with unexplained respiratory failure. Author Affiliation: (1) Divisione di Patologia Neonatale, Ospedali Riuniti di Bergamo, Bergamo, Italy, IT (2) Division of Neonatology and Pulmonary Biology Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, Ohio 45229--3039, USA, US (3) Division of Neonatology, CMSC 210, John Hopkins University, School of Medicine, 600 N. Wolfe Street, Balitmore, Maryland 21287-3200, USA, US Article note: Received: 20 May 1999/Final revision received 3 November 1999/Accepted: 8 November 1999
- Published
- 2000