Misc Adult Disorders

Question 1

diagnostic criteria (clinical) for ADPKD

Answer 1

60 - 4 cysts in each kidney

Question 2

genetics of ADPKD

Answer 2

caused by 2 genes (PKD1 and 2) - locus heterogeneity

only 5-10% are de novo

Question 3

diagnostic criteria for HHT

Answer 3

3+ are definite, 2+ are suspected

epistaxis
telangiectasias (multiple, lips oral cavity fingers nose)
visceral lesions - GI telangiectasia, misc AVMs
family history

Question 4

genes of HHT

Answer 4

AD, fully penetrant by age 40

ENG and ACVRL1 are main genes

Question 5

dx of hereditary hemochromatosis

Answer 5

fasting transferrin sat >45% in males or >35% in premenopausal females on 2 sep occasions

Question 6

hereditary hemochromatosis genetics

Answer 6

AR

HFE gene

Question 7

GINA - what it does in general, and what it does not address

Answer 7

prevents from genetic discrimination in health insurance, jobs, etc
does NOT address life insurance, disability insurance, long term care insurance