Genetic Disorders: AR and X-Linked Flashcards
1
Q
Defect for CF is on what chromosome
A
7
2
Q
clinical features of CF
A
- Recurrent pulmonary infections (pseudomonas)
- Bronchiectasis
- pancreatic insufficiency
- meconium ileus
- infertility in males (absence of vas deferens)
- Fat soluble vitamin deficiency
- salty taste
3
Q
Treatment of CF
A
- N-acetylcysteine
- antibiotics (fluoroquinolones)
- pancreatic enzymes
- Fat soluble vitamins
4
Q
Describe Fabry disease
A
- X-linked recessive
- Deficiency in alpha-galactosidase
- accumulation of ceramide trihexoside
- Pain (damage to peripheral nerves
- renal failure
- HTN
- cardiomyopathy
- angiokeratomas
5
Q
Describe Gaucher disease
A
- most common lysosomal storage disease
- deficiency in Glucocerebrosidase —-> accumulation of glucocerebroside
- Hepatosplenomegaly
- Painful bony lesions
- anemia
- fatigue
- thrombocytopenia
- Prominent blue cytoplasmic fibrils (crumpled tissue paper)
6
Q
Describe Neimann-Pick Disease
A
- deficiency in Sphingomyelinase —> accumulation of sphingomyelin
- Hepatosplenomegaly
- thrombocytopenia
- ataxia
- dysarthria
- dysphagia
- gradual worsening of intellectual function
- Cherry red spot on the macula and foam cells
7
Q
Describe Tay-Sachs disease
A
- Deficiency in Hexosaminidase A —-> accumulation of GM2 ganglioside
- Worsening mental and physical abilities
- Death by age 4
- Cherry red spot on macula
- NO hepatosplenomegaly
8
Q
Describe Krabbe disease
A
- Deficiency in Galactocerebrosidase —> accumulation of galactocerebroside
- Affects myelin sheath (peripheral neuropathy)
- seizures
- optic atrophy
- weakness
- developmental delay
- symptoms begin at 3-6 months, death by 2 years
- “Krab from futurama –> “Galactic”
9
Q
Describe Metachromatic leukodystrophy
A
- Deficiency in Arylsulfatase —-> accumulation of cerebroside sulfate
- affects myelin sheath
- muscle wasting
- weakness
- progressive vision loss
- dementia
10
Q
Describe Hurler syndrome
A
- Deficiency in Alpha-L-Iduronidase —-> accumulation of heparan sulfate and dermatan sulfate
- Progressive deterioration
- Coarse facial features
- hepatosplenomegaly
- intellectual disability
- poor growth (resembles dwarfism)
- corneal clouding
- Hurler-Scheie and Scheie are lesser forms that have later onset
11
Q
Describe Hunter syndrome
A
- Deficiency of iduronate sulfatase —-> accumulation of heparin sulfate and dermatan sulfate (same accumulation as Hurler but different enzyme)
- Milder form of Hurler
- Later onset of 1-2 years
- No corneal clouding
- aggressive behavior
