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8 Cards in this Set
- Front
- Back
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Cystic Fibrosis
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most common lethal genetic illness among Caucasian children, adolescents, and young adults. It is an inherited disease caused by a defective gene and its protein product that cause the exocrine system to produce unusually thick, sticky mucous.
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Presenting symptoms of CF
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- Increased viscosity of mucous gland secretions leading to greater resistance in ciliary action and possible mechanical obstruction
- Increased Sweat Chloride – both Na and Cl are affected - GI impairment of fat absorption leading to steatorrhea, impairment of protein absorption leading to azotorrhea - Development of Type I diabetes - Liver involvement with cirrhosis - Delayed puberty - Sterility in males |
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Diagnosis of CF
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- Meconium Ileus present at birth
- Family History - Absence of Pancreatic Enzymes - Positive new born Screening test – Immunoreactive Trypsinogen (IRT) - Two positive sweat chloride tests Normal < 40 meq/dl >40 meq suggestive in an infant >60 meq suggestive in a child |
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Earliest sign of CF in newborns
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Meconium ileus
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Long term problems of Cleft Palate
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- Speech
- Possible hearing loss - Otitis media - Orthodontics - Feeding - Social acceptance |
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Colic
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Paroxysmal abdominal pain or cramping that is manifested by loud crying and drawing legs to the abdomen.
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Hirschprung Disease
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A congenital anomaly that results in mechanical obstruction from inadequate motility of part of the intestine.
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Intussusception
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Occurs when a proximal segment of the bowel telescopes into a more distal segment, pulling the mesentery with it. Commonly occurs at the ileocecal valve
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