B2 Flashcards
What does it mean to have a genetic predisposition to a condition?
It is the potential higher susceptibility to develop a certain condition due to inherited genes from one or both parents
What is Cystic Fibrosis?
Inherited condition
Causes mucus to build in lungs and digestive system
Tested for using newborn screening and heel prick test
Treatment for Cystic Fibrosis
Bronchodilators to widen airways
Antibiotics to combat chest infections
Medication to make mucus thinner
Steroid medications to treat growths in nose
What is Brittle Bone Disease?
Bones weaker and more fragile
Can be inherited or environmental
Linked to alcohol misuse, low testosterone and hormonal changes in menopause
Treatment for Brittle Bone Disease
Bisphosphonates: alendronic acid, ibandromic acid, zoledronic acid
Supplements of calcium and vitamin D
Selective oestrogen receptor modules (help with bone density)
What is Phenylketonuria (PKU)?
Can’t break down amino acids that build up in blood and brain
Newborns offered blood spot screening at 5 days old
Treatments for PKU
Low protein diet
Amino acid supplements
Medications e.g. sapropterin
Regular blood tests
What is Huntington’s disease?
Stops part of the brain working over time
Inherited from parents
Symptoms usually start at 30-50 years old
Fatal after period of up to 20 years
Treatments for Huntington’s disease
No cure
Therapies (Occupational, Speech+language, Physiotherapy) to make daily tasks easier
Medicines for depression, mood swings, involuntary movements
What is Klinefelter’s Syndrome?
Males born with extra X chromosome
Might have one testical, smaller penis, more breast tissue
May cause health issues like type 2 diabetes or male breast cancer
Treatments for Klinefelter’s syndrome
Testosterone replacement therapy
Fertility treatment
Breast reduction surgery
What is Down’s syndrome?
Born with an extra chromosome
Usually by change in sperm or egg before birth
Causes varying levels of learning difficulties
Treatments for Down’s Syndrome
Physical or occupational therapy
Speech and language therapy
Colour Blindness
See colours differently to others and struggle to tell them apart
2 tests:
Colour arrangement
Ishihara test
Treatments for colour blindness
Colour blind corrective glasses