Metabolism, Endocrinology and Haematology Flashcards
1
Q
What is Glucose-6-phosphate dehydrogenase deficiency?
Inheritance?
Gene?
Causes?
Symptoms?
Treatment?
A
- Genetic disorder which occurs mainly in males
- X linked recessive
- Mutation in the G6PD gene so affects G6PD enzyme
- Affects Red Blood cells, causing them to break down prematurely (hemolysis)
- Therefore causes Hemolytic anemia
- Paleness, Jaundice, Dark Urine, Fatigue, Shortness of breath, Rapid heart rate
- Treatment
- Remove the trigger
2
Q
What is Kwashiorkor?
Causes?
Signs?
Symptoms?
Treatment?
A
- What is it?
- A severe form of malnutrition common in developing regions of the world
- Causes
- Diets lack protein and other essential nutrients
- Signs
- Too much fluid in the body tissues causing oedema
- Begins in the legs but can involve the whole body
- Symptoms
- Loss of muscle mass
- Enlarged tummy
- regular infections, inflamed skin,, dry hair, tiredness, irritability
- Treatment
- Specially formulated milk based feeds or ready to use therapuetic food
- Also would treat dehydration and vitamin and mineral deficiencies
- Usually takes 2-6 weeks
3
Q
What is alcohol dependance?
Risks?
Treatment?
A
- What is it?
- Drining excessively over a long period of time
- Risks?
- accidents or injury
- Violence
- unprotected sex
- Alcohol poisoning
- Increases risk of heart disease, stroke, liver problems, cancers
- Social issues and relationships
- Withdrawal symptoms- hand tremors, sweating, hallucinations, depression, anxiety , insomnia
- Treatment?
- Screening tests to diagnose
- Then Alcoholics anonymous
- Councelling and CBT and detoxification
4
Q
What is Galactosemia?
Inheritance?
Causes?
Symptoms?
Treatment?
A
- What is it?
- Rare genetic metabolic disorder that affects an individuals ability to metabolize the sugar galactose properly
- Inheritance?
- Autosomal recessive
- Causes?
- Deficiency in enzyme responsible for galactose degradation
- Galactose-1- phosphate Uridyl Transferase deficiency
- Symptoms?
- Infant is given milk and the galactose substances build up causeing liver, brain, kidney and eye damage
- Convulsions, Irritability, Lethargy, Poor feeding, Poor weight gain, Yellow skin and white of the eyes, Vomiting
- Treatment?
- Avoid milk and other foods that contain galactose
- Calciium supplements
5
Q
What is Phenylketonuria? (PKU)
Inheritance?
Diagnosis?
Symptoms?
Diet?
A
- What is it?
- inherited error in metabolism that results in decreased metabolism of the amino acid phenylalanine
- The pheylalanine then then builds up in the blood and brain causing brain damage
- Inheritances?
- Autosomal recessive
- Diagnosis?
- Heel prick test
- Symptoms?
- May have no symptoms if caught early
- Or may have behavioural difficulties, fairer skin, hair and eyes, eczema, recurrent vomiting, jerking movements in arms and legs, tremors, epilepsy, musty smell on the breath, skin and urine
- Diet?
- Low protein diet that avoids high protein foods
- Amino acid supplement
- Avoid aspartame
6
Q
What is Homocystineuria?
Diagnosis?
inheritance?
Symptoms?
Treatment?
A
- What is it?
- Disorder of methionine metabolism leading to an abnormal accumulation of homocysteine and its metabolites in the blood and urine which can be harmful
- Diagnosis?
- Heel prick test
- Inheritance?
- Autosomal recessive
- Symptoms?
- After the first year of life- vision problems, weak bones, bones and joints, blood clots and strokes
- Risk of brain damage
- Treament?
- Vitamin B6 supplements
- Diet low in protein
- Betaine which helps clear excess homocysteine
7
Q
What is Hyperammonemia?
Symptoms?
Treatment?
A
- What is it?
- metabolic distrubance characterised by an excess of ammonia in the blood
- Primary- Reduced activity in any enzyme in the Urea cycle
- Secondary- reduced activity of enzymes not in th urea cycle
- Can be acquired if acute liver fialure like hepatitic B or C
- Symptoms?
- Brain injury and death
- Hepatic encephalopathy
- Treatment?
- limit ammonia intake and increase excretion
- Sodium benzoate, arginine, sodium phenybutyrate
8
Q
What is Glycogen storage disease?
Symptoms?
Treatment?
A
- What is it?
- Metabolic disorder caused by enzyme deficiency affecting glycogen synthesis, breakdown or glycolysis
- Can be in many forms, such as inherited
- Causes low blood sugar levels in periods of fasting
- Symptoms?
- Tiredness, slow growth, obesity, bleeding and blood clotting issues, kidney, breathing and heart problems, mouth sores, Gout
- Treatment?
- depends on the type but can be treated with frequent small meals of carbohydrates and cornstach to prevent low blood sugar
- Allopurinol and human granulocyte colony stimulating factor
9
Q
What is Hyperlipoproteinemia?
Causes?
Symptoms?
Treatment?
A
- What is it?
- Common disorder resulting in an inability to break down lipids or fats in your body
- LDL and triglycerides high and HDL low
- Causes?
- Primary or secondary
- Primary is genetic and due to a mutation in lipoproteins so lipids accumulate in the body
- Secondary is from other health conditions such as diabetes, hypothyroidism, pancreatitis, drugs and lifestyle choices cause high levels of lipids in the body
- 5 different types
- Symptoms?
- Lipid deposits e.g. xanthomas on the skin
- Pancreatitis, abdominal pain, enlarged liver or spleen, family history
- Heart attack
- Stroke
- Treatment?
- Atorvastatin, Fluvastatin, Pravastatin
- Low fat diet, weight loss, increased exercise, stress relief
10
Q
What is Dyslipoproteinemia?
A
- What is it?
- Dyslipidemia
- Unhealthy levels of one or more kinds of fat in the blood
- HDL, LDL and triglycerides
- Primary or secondary
- High cholesterol
- Can lead to Coronary artery disease, heart disease, strokes
- Statins treat
11
Q
What is Anemia?
Types?
Symptoms?
Treatment?
A
- What is it?
- Iron Deficiency anaemia- lack of iron
- B12 and folate anemia- lack of vitamin B12 and folate causes lare red blood cells that dont function properly
- Causes difficulty transporting oxygen around the body
- Symptoms?
- Tiredness
- Lethargy
- Paleness
- Confusion
- breathlessness, faint, headaches, palpitations, tinnitus
- B12 may also get ulcers, yellowish skin, gossitis, pins and needles, decline in mental abilities
- Treatment?
- Iron or B12 or Folate supplements
12
Q
What is Anemia of Chronic Disease?
Causes?
Symptoms?
Treatment?
A
- What is it?
- Low levels of circulating red blood cells or haemoglobin due to underlying chronic illness
- Causes?
- Shortened life span of red blood cells
- production may be impaired
- Chronic illness may secrete substances that destroy immature red blood cells
- Symptoms?
- Paleness, fatigue, lethargy, light headedness, short of breath
- Treatment?
- Treat underlying condition
13
Q
What is Pyruvate Kinase deficiency?
Inheritance?
Causes?
Symptoms?
Treatment?
A
- What is it?
- genetic blood disorder which low levels of pyruvate kinase enzyme which is used by red blood cells
- Red blood cells break down too easily
- Causing hemolytic anemia
- Inheritance?
- Autosomal recessive
- Causes?
- PKLR gene mutation
- Symptoms?
- Jaundice
- enlarged spleen
- Anemia symptoms
- Treatment?
- Supportive e.g. blood transfusion and spleen removal
14
Q
What are Myeloproliferative neoplasms?
A
- What is it?
- Blood cancers that occur when the body makes too many white or red blood cells or platelets
- Symptoms
- shortness of breath, weakness, fatigue, pale skin, loss of appetite, prolonged bleeding
15
Q
What is Polycythemia?
Causes?
Symptoms?
Treatment?
A
- What is it?
- Elevated Hematocit (volume percentage of red blood cells in the blood)
- Makes blood thicker and less able to travel through blood vessels and organs
- Sluggish blood flow
- Causes?
- Apparant- have less plasma so same symptoms, due to overweight, smoking, alcohol, diuretics, dehydration
- polycythemia vera- JAK2 gene causes bone marrow cells to produce to many red blood cells
- secondary to another condition e.g. COPD and kindey tumours
- Symptoms?
- Headaches, blurred vision, red skin, tiredness, high blood pressure, dizziness, confusion, itchy skin
- Blood clots so heart attacks, pulmonary embolisms and strokes
- Treatment?
- Venesection
- medications e.g. hydroxycarbamide
- Aspirin to prevent blood clots
- life style changes
