Genetic Disorders

Question 1

what demographic is most affected by acute intermittent porphyria?

Answer 1

women in teens or 20s

Question 2

what are the diagnostic indicators of acute intermittent porphyria?

Answer 2

1. unexplained abdominal crisis
2. acute PNS or CNS dysfunction
3. recurrent psychiatric illness
4. profound hyponatremia
5. porphobilinogen in urine (gets dark after standing)

Question 3

how can AIP be treated?

Answer 3

1. avoid drugs that trigger attacks
2. high carbohydrate diet
3. analgesics for acute episodes
4. hematin for elecrolyte imbalance (4 mg/kg up to two times daily)

Question 4

what enzyme deficiency causes alkaptonuria?

Answer 4

homogentisic acid oxidase

Question 5

what the diagnostic indicators of alkaptonuria?

Answer 5

1. arthropathy
2. ochronosis (graying of CT)
3. radiodense IV discs
4. urine turns black on standing

Question 6

how is alkaptonuria treated?

Answer 6

in the same way as other arthropathies

Question 7

when is down syndrome diagnoses?

Answer 7

at birth

Question 8

what are diagnostic indicators of down syndrome?

Answer 8

1. craniofacial abnormalities
2. hypotonia
3. single palmar crease

Question 9

what are the main problems that are associated with down syndrome?

Answer 9

1. duodenal atresia
2. congential heart dz (AV canal defect)
3. hematologic malignancy

Question 10

why do they test the genes of down syndrome babies?

Answer 10

evaluate the risk of future down syndrome babies for that parent

Question 11

how does fragile X mental retardation affect males?

Answer 11

mental retardation
autism
large testes after puberty

large ears
prominent jaw
high-pitched voice

Question 12

how does fragile X mental retardation affect females?

Answer 12

learning disabilities
mental retardation
premature ovarian failure

Question 13

what gene is affected in fragile X mental retardation?

Answer 13

FMR1 gene (expanded trinucleotide repeat)

Question 14

when should you test for fragile X genetic repeat?

Answer 14

any unexplained mental retardation (2nd common cause after Down syndrome)

Question 15

what is a possible cause of unexplained tremor/ataxia in middle age?

Answer 15

FMR1 repeat (fragile X tremor-ataxia syndrome)

Question 16

what are the diagnostic indicators of Gaucher disease?

Answer 16

1. anemia
2. thrombocytopenia
3. hypersplenism
4. pathologic fractures
5. deficiency of beta glucocerebrosidase

Question 17

what demographic is commonly affected by Gaucher disease?

Answer 17

Jewish or Easter Europeans

Question 18

what are Gaucher cells?

Answer 18

phagocytic cells that have a lot of sphingolipid

Question 19

what is the infantile onset form of Gaucher disease?

Answer 19

type II with neurological problems and poor prognosis

Question 20

what lab findings would indicate Gaucher disease?

Answer 20

1. bone aspirates revealing periodic acid Schiff and eccentric nucleus
2. elevated serum acid phosphotase
3. deficient glucocerebrosidase

Question 21

what is the treatment for Gaucher disease?

Answer 21

enzyme replacement (expensive)

Question 22

what is pleiotropic effect?

Answer 22

autosomal dominant traits that affect several organ systems

Question 23

what is consanguineous?

Answer 23

parents of an offspring are related to one another