Deja Review Histology & Cell Biology by Jae Song

Author:Jae Song
Language: eng
Format: epub
Publisher: McGraw-Hill Education
Published: 2011-02-23T16:00:00+00:00

Figure 15.3 Gallstones.

Hereditary spherocytosis. Deficiency in the RBC membrane proteins (particularly spectrin or ankyrin proteins) leads to hemolytic anemia, commonly associated with splenomegaly, normocytic normochromic anemia, and pigment gallstones.

A 7 mo Caucasian boy p/w failure to thrive. Mother reports the baby is a poor feeder, passes greasy stools, and has had recurrent infections and pneumonia since birth. Birth history reveals meconium ileus. Physical exam reveals a malnourished infant with diffuse respiratory wheezes and rales and hepatomegaly. What is the first test you would perform to confirm the diagnosis?

A sweat chloride test revealing elevated concentrations of Na+ and Cl three times the normal level confirms the diagnosis of cystic fibrosis (CF), an AR disorder affecting about 1:2000 children. The product of the cystic fibrosis transmembrane conductance regulator gene on chromosome 7 is a chloride ion channel. Mutations of this ion channel results in CF, and patients p/w malabsorption due to exocrine pancreatic insufficiency, recurrent bacterial respiratory infections, and increased salt loss in sweat.

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