Cystic fibrosis in Infant/Neonate
Cystic fibrosis is an autosomal recessive disorder with a high prevalence in Ashkenazi Jewish populations. In these high-risk populations, routine genetic testing is often pursued.
Early trials of combining 2 genetic therapies have shown promising results in their potential to treat the underlying genetic cause of disease in the majority of patients with cystic fibrosis. Despite significant improvements in therapy in the past few decades primarily pertaining to pulmonary function and nutrition, life expectancy is still only in the mid-30s on average, although this has increased over the past several decades.
For more information, see OMIM.
E84.9 – Cystic fibrosis, unspecified
190905008 – Cystic Fibrosis
- Immunologic abnormalities (selective IgA deficiency, Bruton agammaglobulinemia) – May present with recurrent sinopulmonary infections.
- Primary ciliary dyskinesia – Recurrent sinopulmonary infections and infertility.
- Shwachman-Diamond syndrome
- Foreign body aspiration – Recurrent pneumonia.
- Tracheoesophageal fistula
- Chronic sinusitis