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18 Cards in this Set

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  • Back
What gene is affected in NF-1?
The gene that causes neurofibromatosis type 1 has been mapped to chromosome 17q11. This gene encodes a protein called neurofibromin, which down-regulates the function of the p21 ras oncoprotein.
What is characteristic of the cells in NF-1 lesions? What type of cells are they usually?
1. They are very elongated looking under the microscope.
2. Schwann cells
What is the inheritance pattern and the incidence of adult polycystic kidney disease?
Adult polycystic kidney disease occurs in approximately 1 out of 1000 people. A rare autosomal recessive polycystic kidney disease occurs in childhood (perinatal, infantile, neonatal, and juvenile subcategories) but this anomaly is genetically distinct from the adult variety.
What are some of the other congenital anomalies that can be seen in people with polycystic kidney disease?
Asymptomatic polycystic liver disease is seen in 40% of these patients. Cysts can also occur, albeit infrequently, in the spleen, pancreas and lungs. These people also have a 10% to 30% incidence of berry aneurysms in the circle of Willis.
What is the genetic defect and the pattern of inheritance of alpha 1-antitrypsin deficiency?
Alpha 1-antitrypsin deficiency is an autosomal recessive disorder caused by mutations in the protease inhibitor locus of chromosome 14. In the mutations that lead to a deficiency of the enzyme, the protein is transcribed but there is abnormal folding of the protein, thus it cannot be processed by the endoplasmic reticulum of hepatocytes. The protein, therefore, accumulates in the endoplasmic reticulum forming PAS-positive granules.
What is the clinical triad associated with hemochromatosis?
Diabetes mellitus, skin pigmentation, and hepatic fibrosis.
What are the two main types of hemochromatosis?
1. Primary or idiopathic hemochromatosis (also called hereditary hemochromatosis - HHC) is an autosomal recessive heritable disorder. The hemochromatosis gene is located on the short arm of chromosome 6, and the associated HLA haplotypes include A3 in 70% of hemochromatosis patients.

2. The second type of hemochromatosis where the source of iron overload can be explained is called secondary hemochromatosis. Alcoholic liver disease is also associated with increased iron accumulation in liver cells. Other more obtuse causes of iron overload leading to secondary hemochromatosis include: transfusions of packed RBCs, iron-dextran injections, and long term hemodialysis.
What is Wilson's disease?
Copper does not get back into the circulation as ceruloplasmin and copper excretion into bile is severely impaired. The accumulation of copper leads primarily to liver, brain and eye damage. The liver develops fatty change and nuclear vacuolization in the setting of acute or chronic hepatitis which later progresses to cirrhosis. Neurologic manifestations include toxic neuronal injury primarily in the basal ganglia. Accumulation of copper in the cornea results in the formation of Kayser-Fleischer rings.
In a spleen from someone affected with Gaucher's disease, what is the appearce upon sectioning?
What is missing in section with a Gaucher spleen?
There is no white pulp while the red pulp is very eosinophilic.
What is a tophus?
A tophus is a large, chalky accumulation of urate crystals found in the tissue surrounding a joint.
What is seen at the edge of a tophus histologically?
The character of the intense chronic inflammatory cell reaction is evident and note the presence of giant cells within this inflammatory cell reaction.
What are the two types of Gout?
The main type is primary gout which makes up 90% of all cases. In most cases of primary gout the enzyme defect is unknown. In rare cases the enzyme defect is known, but gout symptomatology is the main clinical finding.

In secondary gout the cause of the hyperuricemia is known (e.g. leukemia, renal failure, Lesch-Nyhan syndrome).
What are the four stages of gout?
1. Asymptomatic hyperuricemia
2. Acute gouty arthritis
3. Intercritical gout
4. Chronic tophaceous gout.
What initiates causes of acute gouty arthritis?
MSU crystals are chemotactic and they activate complement. This initiates a cascade of inflammatory events which leads to acute gouty arthritis.
What is seen in diabetics with nodular glomerulosclerosis?
Kimmelstiel-Wilson lesions ("K-W lesions")
What material is found within these sclerotic nodules and what happens to these lesions over time?
The nodules are composed of lipids and fibrin. As the disease progresses the K-W nodules enlarge until they compress and obliterate the glomerular tuft. Because of these glomerular and arteriolar lesions, the blood flow to the kidney is compromised and the kidney becomes ischemic. This results in tubular atrophy and interstitial fibrosis and leads to a roughened renal cortical surface.
What serum level can be indicative of Down syndrome?
Decreased serum levels are indicative of trisomy 21.