RESUMO
We present the case of a child given a CFSPID designation in early life who was later reclassified as having CF based on a combination of recurrent respiratory symptoms and CFTR functional testing, despite normal sweat chloride levels. Here we demonstrate the importance of monitoring these children, each time reviewing the diagnosis based on updated understanding of individual CFTR mutation phenotypes or clinical findings inconsistent with the designation. This case identifies situations in which the CFSPID designation should be challenged, and gives an approach for this when CF is suspected.
Assuntos
Fibrose Cística , Recém-Nascido , Criança , Humanos , Fibrose Cística/diagnóstico , Fibrose Cística/genética , Regulador de Condutância Transmembrana em Fibrose Cística/genética , Triagem Neonatal , Fenótipo , MutaçãoRESUMO
BACKGROUND: A variety of instruments are available that can objectively assess physical parameters of the skin such as strength, firmness, elasticity, hydration, and color, often undetected by clinical assessment. OBJECTIVE: To assess the physical properties of healed acute and chronic wounds using several noninvasive instruments. METHODS: Four patients with healed acute wounds and four patients with healed chronic wounds were studied using ballistometric, impedance, levarometric, and spectrophotometric measurements. RESULTS: In general, scars were harder, less elastic, dryer, and more erythematous than control skin. These differences were more pronounced in healed chronic wounds. CONCLUSION: A scar from an acute surgical wound becomes softer, more elastic, dryer, less erythematous, and less pigmented as it ages. In contrast, chronic wound scars become harder as they age. These different properties of healed acute wounds and healed chronic wounds may be a result of the different healing processes in each wound type.