Pathology

Question 1

Corneal clouding, coarse facies, restricted joint movement, hepatosplenomegaly, skeletabl abnormalities, intellectual disability

Answer 1

I-Cell Disease

• Def in phosphotransferase: puts onthe M6P tag
• No mannose-6-P to target lysosomal proteins –> secretion out of cell instead of into lysosomes
• High serum lysosome enzymes

Question 2

Infertility, bronchiectasis, chronic sinusitis

Answer 2

Primary ciliary diskinesia

-Dynein arm defect –>immotile cilia

Question 3

Bronchiectasis, chronic sinusitis, sinus inversus, infertility

Answer 3

Kartanger Syndrome

-def in dynein arm defect –> immotile cilia

Question 4

Family history of MI and premature death, everyone in family has an extremely high serum LDL

Answer 4

Familial Hypercholesterolemia

-Mutant LDL receptor lacks thecoated-pit binding site but can bind LDL still –> cant ingest LDL –> higher risk of MI

Question 5

Delayed umbilicus separation and recurrent infections

Answer 5

Leukocyte Adhesion Deficiency

• Abnormal LFA-1 (integrin)
• affects tight binding

Question 6

Blue eyes, hearing loss, multiple fractures, dental abnormalities

Answer 6

Osteogenesis Imperfecta

• Type 1: autosomal dominant
• Defect COL1A1 and COL1A2
• Normal Type 1 collagen, just not enough of it

Question 7

Scar that extends way past the area where it should be and balloons out

Answer 7

Keloid

• scar with too much collagen
• inject corticosteroids (inhibit collagen synthesis)
• More common in African Americans

Question 8

Nephritis, cataracts, hearing loss

Answer 8

Alport Syndrome

• defect in Type IV collagen
• X-linked dominant
• “basket weave”appearance on micro

Can’t see, can’t pee, can’t hear a high C

Question 9

Hyperflexible joints, arachnodactyly, aortic dissection, lens dislocation

Answer 9

Marfan’s Syndrome

-Defect in fibrillin

Question 10

hyperextensible skin, hyperextensible joints, easy bruising,arterial rupture, intracranial aneurysms

Answer 10

Ehler’s Danlos
Hypermobility: joint instability
Classical: Defect in Type I & V hyperextensible skin and joints
Vascular: defect in Type II: arterial reupture, hemorrhage, intracranial aneursysms

Question 11

Hepatitis, non-smoker emphysema

Answer 11

Alpha 1 antitrypsin deficiency

• panacinar emphysema
• def in alpha 1 (which normally inhibits elastase)
• accumulation in hepatocytes leading to liver problems

Question 12

Defect in N-acetylglucosaminyl-1-phosphoternsferase

Answer 12

I- Cell Disease

-enzyme that phosphorylates mannose 6 to put onto proteins

Question 13

Brittle, white easily broken hair, growth retardation, hypotonia

Answer 13

Menses Disease

• X-linked recessive CT disease caused by impaired Copper Absorption from defective Menkes protein (ATP7A)
• Dec activity of Lysyl oxidase