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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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16
Q

What is Hyperlipidemia?

A
  • What is it?
    • High levels of lipids or lipoproteins in the blood
    • Can be familial or Secondary
    • Treated with statins and change in lifestyle
17
Q

What is Hypercholesterolemia?

A
  • What is it?
    • High levels of cholesterol in the blood- high levels of LDL
    • Type of hyperlipidemia and hyperlipoproteinemia
18
Q

What is Splenomegaly?

Causes?

A
  • What is it?
    • An enlarge spleen
  • Causes?
    • Infections e.g. mononucelosis, endocarditits, syphilis, malaria
    • Cirrhosis
    • Hemolytic anemia
    • Blood cancers
19
Q

What is Hyposplenism?

A
  • What is it?
    • When the spleen gets smaller or works less
  • Causes?
    • Chronic folate deficiency
    • Sickle cell disease
    • Celiac disease
    • Alcoholic liver disease
    • Lymphomas
    • Autosomal disorders
20
Q

What is Leukocytosis?

A
  • Increase number of white blood cells in the blood especially during infection, long term inflmaation, leukemia, stress
21
Q

What is Leukopenia?

Causes?

A
  • Decrease in the number of white blood cells in the blood
  • Increased risk of infection
  • Caused by blood cell or bone marrow conditions, cancers and treatments, congenital problems, HIV, TB, autoimmune disorders, Malnutrition, Viral infections
22
Q

What is Neutropenia?

Causes?

A
  • What is it?
    • Abnormally few neutrophils in the blood
    • more susceptible to infection
  • Causes?
    • Chemotherapy
    • Kostmann’s syndrome- congenital
    • Leukemia
23
Q

What is Neutrophilia?

A
  • What is it?
    • Increased number of neutrophils in the blood
  • Causes?
    • Infections
    • inflammation
    • steroids
    • leukemia
    • stress
    • spleen removed
    • smoking
24
Q

What is lymphocytosis?

Causes?

A
  • What is it?
    • Increased number of lymphocytes in the blood
  • Causes?
    • Viral infections
    • whooping cough
    • allergic reactions
    • leukemia
25
What is Eosinophilia? Causes?
* What is it? * Increased number of eosinophils in the blood * Causes? * Allergies and allergic reactions like hay fever and asthma * parasite infections * skin diseases * lymphoma
26
What is Hyperthyroidism? Causes? Symptoms? Treatment?
* What is it? * Overactive thyroid * Thyroid gland produced too much thyroid hormones * Causes? * Graves disease- bodies immune system attacks and damages the thyroid * Lumps on the thyroid * Medications such as amiodarone * Symptoms? * Nervousness, anxiety, irritibility * Mood swings * Difficulty sleeping * Persistant tiredness and weakness * Sesitive to heat * swelling in neck- goitre * palpitations * trembling * weight loss * Treatments? * Medications to stop the thyroid producing excess hormones e.g. carbimazole and propylthioutacil * also beta blockers to relieve symptoms * Radioiodine treatment * Surgery
27
What is Hypothyroidism? Causes? Symptoms? Treatment?
* What is it? * Underactive thyroid * Thyroid gland doesnt produce enough hormones (T4) * Causes? * Hashimoto disease- autoimmune reaction * Previous thyroid treatment e..g. radioactive irodine therapy and treatments for overactive thryoid * Iodine deficiency * Symptoms? * Tiredness * Sensitive to cold * weight gain * constipation * depression * slow movements and thoughts * muscle aches and weakness * muscle cramps * dry and scaly skin * brittle hair * loss of lipido * carpal tunnel * irregular periods * Low pithced hoarse voice, puffy face, thinned or partly missing eyebrows, slow heart rate, hearing loss, anemia * Treatment? * Levothyroxine- hormone replacement ​​
28
What is hypopituitarism? Causes? Symptoms? Treatment?
* What is it? * When the pituitary isnt producing enough hormones * All hormones affected- panhypopituitarism * Can have GH deficiency, Gonadotrophin deficiency, TSH and ACTH deficiency or ADH deficiency * Causes? * Benign tumour of the pituitary gland * Direct pressure of a tumour mass * Surgery or radiotherapy * Meningitis * Severe blood loss of head injury or sarcoidosis * Symptoms? * Excessive tiredness and decreased energy * Muscle weakness * reduced body hair * irregular periods * reduced fertility * decreased sex drive * dry skin * constipation * dizziness * low blood pressure * headaches * Diabetes insipidus * increased sensitivity to cold * Treatment? * Corticosteroids * Growth hormone, sex hormones any pituritary hormone replacement
29
What is Hyperpituitarism?
* What is it? * Excess of pituitary hormones * Prolactin, GH or ACTH excess * Causes? * Tumour e.g. adenoma * Symptoms? * GH excess- Englarged hands and feet, facial features, skin tags, body odor, weakness, headaches, husky voice, enlarged tongue, irregular periods, errectile dysfunction * Prolactin excess- tender breasts in women, breasts produce milk, reproductive dysfunction, irregular periods, infertility, low sex drive, erectile dysfunction, low energy levels * Treatment? * Medications to lower levels of hormones * surgery * radiation
30
What is adrenaline rush?
* What is it? * Oversecretion of adrenaline * boost of energy, rapid heart rate, sweating, rapid breathing, do not feel pain, dilated pupils, jittery
31
What is Cushings disease? Causes? Symptoms? Treatment?
* What is it? * Oversecretion of cortisol in the body * Causes? * Steroidsas they contain cortisol * Tumoir in pituitary gland * Tumour in adrena glands * Symptoms? * Weight gain and body fat * increased fat on chest and tummy with slim arms and legs * Buffalo hump * Red round and puffy face- moon face * bruising easily * low libido * large purple stretch marks * weakness in upper arms and thighs * depression and mood swings * Treatment? * Stop steroids * remove tumour ​​
32
What is Addisons disease? Causes? Symptoms? Treatment?
* What is it? * Primary adrenal insufficency * hypoadrenalism * Causes? * Autoimmune disease that attacks the adrenal glands * TB * Symptoms? * Lack of energy * muscle weakness * low mood * loss of appetite * increased thirst * dizziness, fainting, cramps, exhaustion * Treatment? * Medication such as corticosteroids * May go into adrenal crisis- severe deydration, pale and cold, sweating, shallow breath, dizziness, serve vomiting, muscle weakness, headache, drowsiness ​​
33
What is congenital adrenal hyperplasia? Inheritance? Causes? Symptoms? Treatment?
* What is it? * Group of rare inherited autosomal recessive disorders characterised by deficiency of one of the enzymes needed to make specific hormones- corticosteroids, minercorticoids and androgens * Inheritance? * Autosomal recessive * Causes? * Deletions and mutations in CYP1A2 or other * Symptoms? * Large adrenal glands that produce excessive androgens so abnormal development in females with the disease * deficiency in aldosterone- excessive loss of water so dehydration, hypovolemia and hypotension * Treatment? * varies on type and severity * reduced androgen production with hormones and glucocortidcoids and mineralcorticoids ​​​​​
34
What is Mineralcorticoid excess? Inheritance? Symptoms? Treatment?
* What is it? * Excess mineralcoritcoid hormone in blood * Inheritance? * Autosmal recessive * Symptoms? * Hypertesion * Hypokalemia * Treatment? * blood pressure control and aldosterone antagonist e.g. spironalactone
35
What is Diabetes Mellitus? Types? Symptoms? Treatment?
* What is it? * Lifelong condtion that causes a persons blood sugar level to become too high * Types? * Type 1- bodies immune system attacks and destroy Beta cells * Type 1- Where the body doesnt produce enough insulin or the cells do not react to insulin * Symptoms? * Thirst * Urinating more frequently than usual * Tiredness * Weight loss * itching and thrush * cuts or wounds that heal slowly * blurred vision * Treatment? * Type 1- insulin * Type 2- life style changes, metformin