Different Health Condititions Flashcards
What is Cystic Fibrosis?
N01 File
Cystic fibrosis is a genetic disorder caused by mutation (change) in the cystic fibrosis transmembrane conductance (CFTR) gene.
CFTR controls the flow of salt and fluids in and out of cells and defect in this gene causes a build-up of thick, sticky mucus in the body’s ducts.
CF is seen only when both copies of the gene (one inherited from each parent) are defective.
The risk factors include:
Family history
Complications
Complications in the respiratory system:
Damaged airways (bronchiectasis)
Chronic infections: Mucus encourages the growth of microbes
Growths in the nose (nasal polyps)
Coughing up blood (hemoptysis). Over time, cystic fibrosis can cause thinning of the airway walls
Pneumothorax: Can cause chest pain and breathlessness.
Respiratory failure
Acute exacerbations
Digestive system complications:
Nutritional deficiencies Diabetes Blocked bile duct Intestinal obstruction Distal intestinal obstruction syndrome (DIOS)
Symptoms
Diarrhoea/constipation
What is Brittle Bone Disease?
N01 File
Symptoms The severity of symptoms can vary widely depending on the sub-type and include: Multiple broken bones Bone deformities Loose joints Small stature Undersized chest, barrel-shaped rib cage Weak teeth Bowed legs and arms Blue sclera Curved spine Hearing loss Heart defects Respiratory problems
Causes
Caused by a defect in the gene responsible for the production of collagen, a protein present in bones.
The defective gene is usually inherited in an autosomal dominant pattern.
In rare cases, the defect may be acquired.
Prevention
There are no known means of prevention
Complications If untreated for a prolonged period, it may lead to: Hearing loss Heart failure Permanent deformities Spinal cord problems
What is Phenylketonuria (PKU)?
N01 File
Prevention
There are no preventive measures available for the disorder as it is hereditary
A blood test can be performed to check for the presence of the defective gene in people who are planning to have a baby
Blood test of the child should be done soon after birth to detect the disease at an early stage
Complications
If phenylketonuria is not diagnosed or treated at the early stage it might lead to following complications:
Irreversible brain damage
Neurological problems such as seizures and tremors
Intellectual disability within the first few months of life
Pregnancy issues like miscarriage
Abnormally small head
Significant health and development problems
Symptoms
Behavioural, social and emotional problems
Musty/mousy odour in child’s breath, urine or skin due to accumulation of phenylalanine in the body
Causes
If the child harbours one defective gene, he/she does not typically get affected by the disease and are carriers.
What is Huntington’s Disease?
N01 File
This is a rare condition that breaks down and degenerates nerve and brain cells, coursing neuro breakdown and psychological difficulties
What is Huntington’s Disease?
N01 File
This is a rare condition that breaks down and degenerates nerve and brain cells, coursing neuro breakdown and psychological difficulties
What is Klinefelter’s Syndrome?
NO1 File
A very rare condition that exhibits a extra chromosomes within a male body coursing possible slow development or odd body functions.
