Genetic conditions Flashcards
cause of cystic fibrosis
mutation in CFTR gene which controls the movement of salt and water in and out of cells resulting in a build up of sticky mucus in lungs and digestive system
how is Cystic fibrosis diagnosed
heel prick test and sweat test
when is heel prick test done
at 5 day old
inheritance of cystic fibrosis
autosomal recessive
symptoms of CF
- diarrhoea prolonged
- meconium ileus in newborn
- malabsorption –> failure to thrive
- male infertility + female sub-fertility
- chronic resp infections
what does pancreatic insufficiency result in
protein and fat not absorbed
- poor weight gain
- failure to thrive
- steatorrhoea
inheritance of Duchenne muscular dystophy
x linked recessive
genetic mutation in dystrophin gene
complications of duchenne muscular dystrophy
- cardiomyopathy
- resp failure
- scoliosis
- osteoporosis
- learning disability
clinical sign of DMD
positive gower’s sign
clinical features of DMD
- speech delay
- motor skill difficulties
- muscle wasting
- calf hypertrophy
- scoliosis
- learning disabilities in 1/3
- tiptoeing gait (prior to weakness)
diagnosis of DMD
raised creatine kinase
treatment of DMD
steroids; delay progression; has shown to delay the loss of walking significantly by average of 2 years
role of dystophin protein
structural link between muscle fibres; lack of this protein leads to progressive deterioration of muscle structure
what is becker muscle dystrophy
results from a dif alteration in dystrophin gene characterised by muscle weakness of later onset and most individuals remain ambulatory into 20s
side effect of steroids
- increased apetite
- HTN
- growth failure
- bone thinning
- GI irritation
neurofibromatosis t1
autosomal dominant
huntington’s chorea
autosomal dominant
thalassaemia
autosomal recessive
haemophila a
x linked
downs sydnrome
non dysjunction: failure of separation of chromosomes
microcephaly, small eyes, low set ears & cleft palate & polydactyly
features of what syndrome?
Patau syndrome
what chromosomal abnormality results in patau syndrome?
chromosomal abnormality resultign in an extra full copy of chromosome 13
micrognathia is a feature of which 2 syndromes
- Edwards syndrime
- pierre-robin syndrome
features of edwards syndrome?
- rocker bottom feet
- overlapping fingers
- micrognathia
- low set ears
edwards syndrome is trisomy __
18
features of fragile X syndorme?
- learning difficulties
- macrocephaly
- long face
- large ears
- macro-orchidism
large face & long ears & macro-orchidism?
Fragile X syndrome
pectus excavatum is a features of which syndrome?
Noonan syndrome
appearance of noonan syndrrome?
- webbed neck
- pectus excavatum
- short stature
- pulmonary stenosi
pulmonary stenosis is part of which syndrome?
Noonan syndrome
syndrome with posible airway obstruction & why?
Pierre-robin syndrome
- posterior displacement of tongue
- micrognathia
triad of prader willi syndrome?
- obesity
- hypogonadism
- hypotonia
cardiac abnormality in williams syndrome
Supravalvular aortic stenosis
pain on what movement in perthes disease?
pain on internal rotation of hip
