BS Flashcards
1
Q
Phenylketonuria- Inheritance
A
Autosomal recessive
- N European, Ireland
2
Q
Phenylketonuria- Sx
A
- Amino acid disorder, presents around 6 months old
- Intellectual disorder, mousy urine, eczema, seizure
3
Q
Phenylketonuria- Tx
A
- Phenylalanine restricted diet
- Eliminate high protein foods
- Diet and tx lifelong
4
Q
Hypothyroidism- Inheritance
A
85% sporadic
- 13 % autosomal recessive
- 2% transplacental passage
5
Q
Hypothyroidism- Sx
A
- Symptoms after 3 months- Cretinism
- Growth failure
- Prolonged jaundice, lethargy, poor muscle tone
- Large fontanell, distended abdomen
6
Q
Hypothyroidism- Tx
A
Normalize T4 & suppress TSH
7
Q
Sickle cell disease- Inheritance
A
- Autosomal recessive
- Structural defamation of RBCs
8
Q
Sickle cell disease- Sx
A
- Developed during infancy
9
Q
Sickle cell disease- Tx
A
- Penicillin prophylaxis for pneumococcal
- monitor blood counts
10
Q
Sickle cell disease- Tx
A
- Penicillin prophylaxis for pneumococcal
- monitor blood counts
11
Q
Galactosemia- Inheritance
A
- Recessive
- Caucasians
- Carbohydrate disorder
12
Q
Galactosemia- Sx
A
- Hepatomegaly, jaundice, hypoglycemia, failure to thrive
- Begin within 2 day of milk ingestion
13
Q
Galactosemia- Tx
A
Lactose/ galactose free diet
14
Q
Homocystinuria- Inheritance
A
- Recessive
- Sulfur amino acid disorder
15
Q
Homocystinuria- Sx
A
- Mental retardation
- Psych disoders
- Ectopia lentis
- Marfanoid body habitus w/ limited mobility
