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2013, Number 1

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Rev Esp Med Quir 2013; 18 (1)

Neonatal cystic fibrosis

Moreno CY, Sánchez ZDR, Alemán VP, Vizzuett MR

Language: Spanish
References: 13
Page: 69-74
PDF size: 282.44 Kb.


ABSTRACT

Cystic fibrosis is a metabolic illness that affects mainly Caucasian population, characterized by infection and obstruction of airway and some digestive problems. Recent research found the protein related with chlorine gradient, named cystic fibrosis transmembrane conductance regulator (CFTR). The dysfunction of the protein affects the transport and is the final outcome of all mutations that influence the CFTR function: impossibility to transport chlorine. This paper reports the case of a newborn with polyhydramnios, born by eutocic delivery, with abdominal distention, some biliar stained gastric liquid and diagnosed as meconium ileus, with inadequate outcome; he died at seven days and the postmortem study revealed findings compatible with cystic fibrosis.


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