Week 5: Medical Genetics-Porphyrias

Question 1

Inheritance of AIP

Answer 1

AD

Question 2

Major feature of AIP

Answer 2

acute attacks

Question 3

Triggers for acute attacks in aIP

Answer 3

sulpha drugs, EtOH, hormones, infections

Question 4

Diagnosis of AIP

Answer 4

Spot urine test for PBG, ALA

Question 5

Treatment of AIP

Answer 5

Hemin

Question 6

Inheritance of hereditary coproporphyria

Answer 6

AD

Question 7

Major feature of HCP

Answer 7

Similar to AIP but milder and cutaneous lesions

Question 8

Inheritance of Varigate Porphyria

Answer 8

AD

Question 9

2 major features of Varigate Porphyria

Answer 9

Neurovisceral and cutaneous photosensitivity

Question 10

Inheritance of Porphyria Cutanea Tarda

Answer 10

AD

Question 11

4 skin changes in PCT

Answer 11

Blistering and scarring, thickened skin, hypotrichosis, hyperpigmentation

Question 12

Inheritance of congenital erythropoietic porphyria

Answer 12

AR

Question 13

4 major features of CEP

Answer 13

Severe photosensitivity, erythrodontia, osteomyelitis with loss of digits, disfigurement of face

Question 14

Inheritance of erythropoietic protoporphyria

Answer 14

AR

Question 15

Skin features in EPP

Answer 15

Swelling, burning, NO blisters

Question 16

Inheritance of X-Linked protoporphyria

Answer 16

XL

Question 17

Clinical feature of XLP

Answer 17

acute photosensitivity (like EPP)