MEH Flashcards
(90 cards)
1
Q
Lactose intolerance?
A
Decreased ability to digest lactose: Primary - Absence of lactase persistence allele - Only in adults (lactase present in kids) Secondary - Injury to small intestine - Infants and adults - Usually reversible Congenital - AR defect in lactase gene (can't digest breast milk) - Extremely rare
2
Q
Hyperlactaemia?
A
High lactate (2-5mM)
Below renal threshold - so kidneys can still excrete excess
No change in blood pH
Can be coped with
3
Q
Lactic acidosis?
A
High lactate (>5mM) Above renal threshold - kidneys can no longer excrete excess Buffer can't cope with this - pH lowered Possible causes: pyruvate dehydrogenase (converts pyruvate to acetyl CoA) deficiency
4
Q
Essential fructosuria?
A
Fructokinase missing
- leads to fructose in urine and no clinical signs
5
Q
Fructose intolerance?
A
Aldolase missing (usually converts fructose-1-phosphate to glyceraldehyde and DHAP)
- Leads to fructose-1-phosphate accumulating in liver –> liver damage
Treatment: remove fructose from diet
6
Q
Marasmus?
A
Occurs due to insufficient energy intake (protein, vitamins, minerals, dehydration) - form of severe malnutrition
- Mobilisation of fat stores –> fatty acids released (loss of body fat) –> converted to ketone bodies (source of energy for CNS)
- Muscle protein broken down (loss of muscle mass) –> amino acids for glucogenesis (when glycogen stores depleted)
- Signs: wizened appearance, thin limbs, GI tract affected, normochromic anaemia, pituitary hormones affected, heart muscle thins, bradycardia, hypotension, brain affected
- Treatment: reintroduce food slowly
7
Q
Kwashiorkor?
A
Low protein intake
Body unable to synthesise some essential proteins
- Signs: leg swelling, sparse hair, moon face, flaky skin, swollen abdomen, thin muscles with fat, fatty liver –> hepatic dysfunction (lipids accumulate because lipoproteins for their transport not being synthesised), oedema (low albumin so low oncotic pressure of plasma), fatigue, poor immune function, wasting
- Treatment: Small amounts of protein at regular intervals
8
Q
Refeeding syndrome?
A
Cancerous, anorexic patients fed huge meals after malnutrition, when nutrient and energy stores have been depleted (Especially phosphate)
- Insulin increases –> respiration –> use up phosphate –> further decreased conc. –> MI
- Ammonia toxicity due to downregulation of 5 enzymes in urea cycle - coma, confusion, death
- Should be re-fed slowly
9
Q
Galactosaemia?
A
Rare genetic metabolic disorder that affects the ability to metabolise galactose
3 types
Symptoms: vomiting, weight loss, hepatomegaly, jaundice, possibly cataracts
Blood test to identify which type
10
Q
Type 1 Galactosaemia?
A
Deficiency of Uridyl transferase
Usually converts galactose 1-phosphate to glucose 1-phosphate
Hence build up of galactose 1-phosphate when enzyme absent
Causes tissue damage/accumulates in liver, kidney
Treatment: galactose free diet
11
Q
Type 2 Galactosaemia?
A
Deficiency of Galactokinase
Usually converts galactose to galactose-1-phosphate
Hence galactose builds up when enzyme absent - converted to galactitol instead by Aldose reductase (this uses NADPH –> compromised ROS defence)
Causes cataracts
Treatment: galactose free diet
12
Q
Type 3 Galactosaemia?
A
Deficiency of UDP-galactose epimerase (most likely, most serious)
Usually converts galactose-1-phosphate to UDP-galactose (reversible reaction to make galactose-1-P from glucose)
Hence galactose-1-P builds up when enzyme absent–> tissue damage
Treatment: none, because galactose free diet would completely get rid of galactose-1-phosphate and since this isn’t being made from glucose, no galactose-1-P at all (essential)
13
Q
Urea cycle defects?
A
AR genetic disorders - deficiency of one of 5 enzymes (partial loss)
Leads to hyperammonaemia, accumulation/excretion of intermediates
Symptoms: vomiting, lethargy, irritability, mental retardation, seizures, coma
Management: low protein diet, keto acids not amino acids
14
Q
Phenylketonuria?
A
Deficiency in phenylalanine hydroxylase - phenylalanine not converted to tyrosine
(AR - gene on chromosome 12)
Accumulation of phenylalanine
Phenylketones in urine - musty smell
Symptoms: intellectual disability, microcephaly, seizures, hypopigmentation
Treatment: low phenylalanine diet (avoid artificial sweeteners, meat, milk, eggs)
15
Q
Homocystinuria?
A
Defect in cystathionine b-synthase - homocysteine not converted to cystathionine (AR)
Accumulation of methionine and homocysteine
Excess homocystine in urine
Affects CT, muscles, CNS, CVS
Symptoms: lens dislocation, skeletal deformities (also in Marfan’s), neurological problems (not in Marfan’s)
16
Q
Glycogen storage diseases?
A
Due to deficiency/dysfunction of enzymes in glycogen metabolism
11 distinct types
- von Gierke’s disease (G6-phosphatase deficiency) –> enlargement of liver
- McArdle disease (muscle glycogen phosphorylase deficiency) –> exhausted quickly
17
Q
Hyperlipoproteinaemias?
A
Raised plasma level of one or more lipoprotein class Due to: Over-production or Under-removal caused by defects in; enzymes, receptors or apoproteins Treatment: diet, lifestyle, statins (reduce cholesterol synthesis), bile salt sequestrants (use up more cholesterol)
18
Q
Type I hyperlipoproteinaemia?
A
Defective lipoprotein lipase causes chylomicrons to appear in fasting plasma
19
Q
Type IIa hyperlipoproteinaemia?
A
Defective LDL receptor
Associated with severe coronary heart disease
20
Q
Type III hyperlipoproteinaemia?
A
Defective apoE causes raised IDL and chylomicrons remanants
Quite rare
Associated with coronary heart disease
21
Q
Atherosclerotic plaques?
A
Oxidised LDLs engulfed by macrophages -> foam cells
Accumulate in intima of blood vessels -> fatty streak -> atherosclerotic plaque -> angina, stroke, MI
22
Q
Hypercholesterolaemia?
A
High level of cholesterol in blood Deposits in: Eyes lids (yellow patches) - xanthelasma Nodules on tendons - tendon xanthoma White circle around eye - corneal arcus Treatment: lifestyle changes initially, statins
23
Q
Iron deficiency anaemia?
A
Due to either low intake, high loss/usage
- RBCs: hypochromic, microcytic, anisopoikilocytosis, pencils cells -> leads to anaemia
- Low serum ferritin, iron, % transferrin saturation, raised TIBC
- Tests: Ferretin, CHR
- Treatments: diet, supplements, IM/IV, transfusion (severe anaemia)
24
Q
Excess iron?
A
Free iron - dangerous
Produce highly reactive hydroxyl, lipid radicals - damage lipid membranes, nucleic acids, proteins
Excess iron deposited in tissues (insoluble)
25
Haemochromatosis?
Excess iron deposited resulting in end organ damage
| Causes liver cirrhosis, diabetes hypogonadism, cardiomyopathy, arthropathy, skin pigmentation
26
Hereditary haemochromatosis?
AR genetic disorder
Mutation in gene HFE on chromosome 6
Normally HFE competes with Transferrin to bind to receptor. Mutated-> doesn't bind, transferrin has no competition
Too much Fe absorbed in intestine/cells -> Fe then deposited by skin, liver, pancreas, heart causing haemosiderosis
Symptoms: liver damage, heart dysfunction, pancreatic failure
Treatment: venesection/repeated bleeding
27
Transfusion assc. haemosiderosis?
Gradual accumulation of iron
Eg: Thalassemia, myelodysplasia
Treatment: iron cheating agents/tablets - only delay effects
28
Anaemia?
Inability of body to deliver enough oxygen - either not enough RBCs or not enough Hb
Due to problems in: erythropoiesis, Hb synthesis, RBC structure/metabolism, RES
29
Reduced erythropoiesis?
Less RBCs being produced
Due to:
-Empty bone marrow, unable to respond to EPO stimulus (after chemo). Leads to aplastic anaemia
-Marrow infiltrated by cancer cells/fibrous tissue
30
Chronic dyserythropoiesis?
```
Anaemia of chronic disease
Seen in: RA, SLE, IBD, TB, bronchiectasis
-Fe in macrophages not released
-RBCs -> low life span
-Marrow -> low response to EPO
Tests: Raised CRP and Ferretin
```
31
Dyserythropoiesis - myelodysplasia?
Production of abnormal clones of marrow stem cells
Macrocyctic anaemia - RBCs destroyed by RES -> progressive anaemia -> acute leukaemia
Test: microscopy
Treatment: chronic transfusions of RBCs, chemo and stem cell transplant
32
B12 deficiency?
Req. for DNA synthesis etc
Leads to megaloblastic, macrocytic anaemia. Can progress to pancytopenia
Due to:
-Diet low in meat
-IF deficiency (pernicious anaemia) - AU disease, gastric parietal cells can't produce IF
-Crohn's etc -> IF-B12 complex doesn't form
-Congenital deficiency in transcobalamin (delivers B12)
Can also cause neurological diseases
33
Folate deficiency?
```
Req. for DNA synthesis etc
Leads to megaloblastic, macrocytic anaemia. Can progress to pancytopenia
Due to:
-Deficiency in diet
-Increased use (pregnancy, skin diseases, haemolytic anaemia)
-Coeliac disease etc
-Crohn's disease drugs
-Alcoholism
```
34
Sickle cell disease?
AR inherited - Val substituted for Glu in6th position of B-chain of Hb
RBCs become sickle shaped - causes anaemia
35
Thalassaemia?
Heterogenous group of genetic disorders - affects either A or B-chains of Hb
Low Hb levels in cells - hypochromic microcytic RBCs/anaemia
-Excessive destruction of RBCs in spleen
-Splenomegaly, hepatomegaly, skeletal abnormalities
Treatment: transfusions, Fe chelation
36
G6PDH deficiency?
G6PDH used in pentose phosphate pathway
Deficiency (due to genetic defect) will lead to less NADPH production -> less protection against ROS
Can lead to anaemia & jaundice: Oxidative damage to Hb -> disulphide bridges -> chains cross link > Heinz bodies -> RBCs damaged -> anaemia & jaundice
Test: bite/blister cells seen on blood film
37
Autoimmune haemolytic anaemia?
Autoantibodies bind to RBC membrane proteins
| Causes increased reticulocytes, bilirubin, LDH enzyme.
38
Myelofibrosis?
Heavily fibrotic marrow, less space for haemapoiesis
| RBCs look like tear drops - removed by RES -> anaemia
39
Myeloproliferative disorders?
Overproduction of one or more blood elements with dominance of a transferred clone
Causes hypercellular marrow, cytogenetic abnormalities, thrombotic/haemorrhagic diatheses, extramedullarly haematopoiesis (liver/spleen) --> acute leukaemia
40
Polycythaemia vera?
Increase in circulating RBCs with persistently raised haematocrit (Hct) due to mutation in JAK2 gene -> erythrocytosis
Causes arterial/ venous thrombosis, haemorrhaging, pruritis, splenomegaly, gout, myelofibrosis, acute leukaemia
Management: venesection, aspirin
41
Erythrocytosis?
```
Increase in concentration of RBCs
-Relative: decreased plasma volume
-Absolute: increased red cell mass
Can be primary (polycythaemia vera) or secondary (EPO production)
Management: venesection, aspirin 75mg
```
42
Splenomegaly?
Abnormal enlargement of spleen
Due to: back pressure, over working red/white pulp, neoplasm, infiltration causes (sarcoidosis), myeloprolifeative causes, hypertrophy (due to RBC destruction or immune response), extramedullary haemotopoiesis
Blood can pool there -> hypersplenism -> pancytopenia/thrombocytopenia
Can rupture -> haemotoma -> anaemia -> hypotension
Can cause infarction
Symptoms: tachycardia, pale, hypotension, tender abdomen
Treatment: splenectomy (causes increased risk on infection)
43
Hyposplenism?
Lack of functioning tissue
Due to: splenectomy, sickle cell disease, coeliac disease
Blood film - Howell Jolly bodies
At risk of developing sepsis from pneumococcus, haemophilus influenzae, meningococcus -> need vaccinations
44
Hereditary spherocytosis?
Genetic (AD), auto-haemolytic anaemia - production of spherocytes (spherical smaller RBCs)
Causes decreased surface area->less deformability->trapped in spleen->destroyed)
Due to: gene mutation of RBC cytoskeleton proteins: Spectrin, Band 3, Protein 4.2 Ankyrin (most common)
Effects: splenomegaly (due to immune response work hypertrophy), jaundice, anaemia, gall stones
Symptoms: abdominal pain, yellow eye discolouration
Test: EMA binding test, high reticulocytes, normal MCV, low platelets
Treatment: splenectomy
45
Pancytopenia?
Deficiency of all blood components - RBCs, WBCs, platelets
Due to:
-reduced production; B12/folate deficiency, bone marrow infiltration, marrow fibrosis, aplastic anaemia, radiation, viruses (EBV, hepatitis etc), drugs (chemo, antibiotics etc), malignancy (leukemia, lymphoma, myeloma etc), congenital
-increased removal; immune destruction (rare), splenic pooling (hypersplenism)
Symptoms: dizzines, fatigue, bleeding, infection, fever
46
Neutrophilia?
High neutrophil count
Due to: drugs (steroids), acute haemorrhage/inflammation, smoking, metabolic/endocrine disorders, cytokines (G-CSF), cancer, tissue damage, myeloproliferative diseases
47
Neutropenia?
Low neutrophil count - <1.5*10^9/L (medical emergency)
Due to:
-reduced production; B12/folate low, infiltration of bone marrow, aplastic anaemia, radiation, drugs, viral infection, congenital
-increased removal; immune destruction, sepsis, splenic pooling
Effects: prone to severe bacterial/fungal infection, mucosal ulceration
Treatment: IV antibiotics immediately
48
Monocystosis?
High monocyte count
Due to: chronic inflammatory conditions (RA, SLE, Crohn's, UC), chronic infections (TB), carcinoma, myeloproliferative disorders/leukaemia
49
Eosinophilia?
High eosinophil count
Due to:
-allergic diseases (asthma), drug hypersensitivity (penicillin), Churg-Strauss, parasitic infection (roundworm), skin diseases
-Hodgkin lymphoma, leukaemia, myeloproliferative diseases
50
Basophilia?
High basophil count
| Due to: immediate hypersensitivity reactions, UC, RA, myeloproliferative diseases
51
Lymphocytosis?
High lymphocyte count
| Due to: viral/bacterial infections (whooping cough), stress (MI), post splenectomy, smoking, leukaemia, lymphoma
52
Aplastic anaemia?
Pancytopenia with a hypocellular bone marrow in the absence of an abnormal infiltrate and with no increase in reticulin
53
Infectious mononucleosis (granular fever)?
Viral infection (EBV), common in children
Primarily spread through saliva
Symptoms: fever, sore throat, enlarged lymph nodes, hepatomegaly/splenomegaly
Test: Paul Bunnell
54
Hypothyroidism?
Low level of thyroid hormones (T3/T4)
Due to: thyroid gland failure, TSH/TRH low, radioactive/low iodine, post surgery, congenital, excessive anti-thyroid drugs, AU Hashimoto's
Symptoms: obesity, lethargy, cold intolerance, bradycardia, dry skin, loss of eyebrow hair, hoarse voice, constipation, slow reflexes, cretinism, myxoedema, menorrhagia
Tests: T3/T4: low, TSH: high
Treatment: oral thyroxine
55
Hashimoto's disease?
```
AU disease resulting in destruction of thyroid follicles -> hypothyroidism
Most common thyroid gland disease
F > M
Goitre possible
Tests: T3/T4: low, TSH: high
Treatment: oral thyroid hormone (T4)
```
56
Myxoedema?
Non pitting oedema due to deposition of mucopolysaccharides
Common with hypothyroidism
Thick puffy skin (eyes, hands, feet), muscle weakness, slow speech, mental detoriation, hair loss
57
Thyrotoxicosis?
High level of thyroid hormones (T3/T4)
Due to: AU Grave's, oxidative multinodular goitre, toxic adenoma, excessive T3/4 therapy, carcinoma, ectopic thyroid tissue
Symptoms: weight loss, irritability, heat intolerance, sweaty warm hands, tachycardia, weakness, increased bowel movements/appetite, hand tremor, hyper reflexive, breathlessness, libido loss, amenorrhea, goitre or exopthalmos (bulging eyes) sometimes
Tests: T3/T4: high, TSH: low
Treatment: antithyroid drugs -carbimazole (methimazole in body)
58
Hyperthyroidism?
Thyrotoxicosis due to over production of thyroxine by the thyroid gland
High level of thyroid hormones (T3/T4)
Symptoms: weight loss, irritability, heat intolerance, sweaty warm hands, tachycardia, weakness, increased bowel movements/appetite, hand tremor, hyper reflexive, breathlessness, libido loss, amenorrhea, goitre or exopthalmos (bulging eyes) sometimes
Tests: T3/T4: high, TSH: low
Treatment: antithyroid drugs -carbimazole (methimazole in body)
59
Grave's disease?
AU disease resulting in production of thyroid stimulating immunoglobulin (TSI) -> hyperthyroidism
Symptoms: Exopthalmos (bulging of eye), pre-tibial myxoedema (skin lesions) + all other symptoms of hyperthyroidism
Tests: T3/T4: high, TSH: low
Treatment: antithyroid drugs -carbimazole (methimazole in body)
60
Toxic adenoma?
A single adenoma developed in thyroid, producing thyroxine
| Suppresses rest of gland
61
Thyroglossal duct cyst?
Remnants of thyroglossal duct epithelium may remain and form cyst
Usually near/within hyoid body forming swelling in anterior neck - always on midline
62
Metabolic thyroid disease?
Mostly due to primary abnormality of thyroid gland - causes hyper/hypothyroidism
Tests: TSH
63
Iodine deficiency?
Leads to goitre
| In pregnancy leads to child with: mental retardation, abnormal gait, deaf-mutism, short stature, goitre, hypothyroidism
64
Retrosternal multinodular goitre?
Multinodular goitre enlarges inferiorly into superior mediastinum (behind sternum)
Causes tracheal compression - trachea no longer circular -> resp. disorders
65
Goitre?
Thyroid swelling
-Diffuse
-Multinodular/colloid: normal thyroid function, but could develop to toxic (hyperthyroidism)
-Single nodule
Can be physiological: menarche, pregnancy, menopause
Due to: iodine deficiency->increased TSH->thyroid enlargement
66
Pituitary dwarfism?
Due to GH deficiency (mainly from adenoma) (complete or partial)
Results in: slow growth rate (height below 3rd percentile on chart), delayed/no sexual development
67
Gigantism?
Due to GH excess, often caused by pituitary oedema
Rare
Leads to acromegaly
68
Acromegaly?
Large extremities due to over production of GH (could be from GH secreting pituitary tumour)
Signs:
-Swelling of soft tissue - carpal tunnel syndrome, deep voice
-Sleep disturbance - snoring through the night
-Diabetes insepidus
Could lead to cardiovascular death, high risk of colonic tumours & thyroid cancer, hypertension
Tests: oral glucose tolerance test
Treatment: surgery for tumour, dopamine agonist/GH receptor blocking drugs, radiotherapy
69
Pituitary tumour?
Can cause: visual loss/tunnel vision/double vision, headaches, pain, droopy eye, hypopituitarism, hyperpituitarism (if tumour secretes hormones)
Tests:
-Thyroid axis (T4,TSH), gonadal axis (LH,FSH,testosterone/oestrogen), prolactin axis (serum PRL), HPA axis (cortisol), GH axis (GH,IGF-1)
-Stimulation test: if deficiency
-Suppression test: if excess
70
Hypopituitarism?
Most commonly due to pituitary adenoma. Sometimes due to radiation therapy, inflammation, head injury
Increase in prolactin
Decrease in LH/FSH (delayed puberty), TSH (low T3/4), ACTH (tired, dizzy, low BP), GH (dwarfism)
71
Prolactinoma?
Prolactin secreting pituitary tumour
Causes hyperprolactinaemia
Treatment: tablets (dopamine agonists)
72
Hyperprolactinaemia?
Increased serum prolactin
Due to:
-If <5000: disinhibition (stalk blockage due to non-functioning pituitary adenoma), treated via surgery
-If >5000: prolactinoma, treated via dopamine drugs (cabergoline)
Female symptoms: menstrual disturbance, fertility problems, galactorrhea
Male symptoms: low testosterone symptoms, visual loss
73
Diabetes insipidus?
Due to lack of production of ADH (due to tumour, radiotherapy, AU, meningitis etc), causing pale polyuria and extreme thirst
Can lead to severe dehydration, hypernatraemia, coma, death
Cranial DI: pituitary disease - due to inflammation, infiltration, malignancy, infection
Nephrogenic DI: ADH resistance kidney disease
Treatment: synthetic ADH (cranial), desmopressin spray/tablets/injection
74
Pituitary apoplexy?
Sudden vascular event in a pituitary tumour
Causes haemorrhage and infarction
Symptoms: sudden headaches, double vision, droopy eye, hypopituitarism
75
Hyperaldosteronism?
Too much aldosterone being produced
Primary (adrenal cort. defect) - adrenal hyperplasia, ald. secreting adrenal adenoma (Conn's), causes low renin
Secondary (extra RAAS) - renin producing tumour, renal artery stenosis, causes high renin
Signs: high BP, LV hypertrophy, stroke, hypokalaemia, hypernatraemia
Treatment: surgery, spironolactone (receptor antagonist)
76
Conn's syndrome?
Hyperactivity of adrenal glands due to adrenal adenoma -> secretes aldosterone -> hyperaldosteronism
Signs: high BP, muscle weakness/spasms, tingling sensations, excessive urination
Tests: plasma renin (low) and aldosterone (high)
77
Cushing's syndrome?
High cortisol in body
Due to adrenal tumour, ectopic ACTH, pituitary tumour (Cushing's disease), steroid medication etc
Signs: moon face, round abdomen, buffalo hump, skinny arms/legs (muscle wasting), easily bruised thin skin, red stretch marks on abdomen (striae), high BP, diabetes, osteoporosis, hyperglycaemia, weight gain, polyuria
Tests: dexamethasone suppression test, ACTH stimulation test, plasma cortisol, ACTH (low in adrenal tumour)
78
Cushing's disease?
High cortisol in body specifically due to benign ACTH secreting pituitary tumour
Changes in appearance: round face/abdomen, skinny arms/legs, skin thin & easily bruised, red stretch marks on abdomen, high BP, diabetes, osteoporosis
Test: dexamethasone suppression test -> cortisol decreased by >50%
79
Addison's disease?
Chronic adrenal cortex dysfunction - low aldosterone, cortisol
Due to AU destruction, diseases of adrenal cortex/pituitary/hypothalamus
F>M
Signs: postural hypotension, lethargy, weight loss, anorexia, hyperpigmentation, hypoglycaemia, dehydration,
Can lead to Addisonian crisis
Tests: -ve synacthen suppression test
Treatment: prednisolone
80
Addisonian crisis?
Life threatening emergency due to Addison's disease + increased stress stimulus/infection/trauma
Symptoms: nausea, vomiting, pyrexia, low BP, collapse, confusion, coma
Treatment: fluid replacement, IV cortisol
81
Phaeochromocytoma?
Chromaffin cell tumour
- tumour stains dark with chromium salts
Secretes catecholamines (mainly NA)
Signs: severe hypertension, headaches, anxiety, weight loss, high BGL, increased sweating
82
Congenital adrenal hyperplasia?
Genetic defect in enzymes req. for synthesis of corticosteroids from cholesterol
Pituitary secretes more ACTH (no -ve feedback form cortisol) -> hyperplasia of adrenal cortex
Signs: genital ambiguity, salt-wasting crisis
83
Metabolic syndrome?
Cluster of diseases/risk factors assc with high risk of causing CVS disease
-diabetes, hyperglycaemia, abdominal obesity, high cholesterol & BP
84
Type 1 diabetes?
BGL too high due to: insufficient insulin from AU destruction of beta cells (genetic predisposition)
Symptoms: rapid onset - polyuria, polydipsia, blurred vision, thrush, weakness, weight loss, vomiting
Effects:
-hyperglycaemia -> dehydration -> confusion
-endothelial damage -> atherosclerosis etc, stroke/MI, retino/nephro/neuropathy, diabetic foot
-ketoacidosis -> coma, vomiting
-hypoglycaemia (from treatment) -> coma -> death
Tests: high - fasting glucose, oral glucose tolerance, HbA1c, venous plasma glucose, keto stick (high ketones)
Treatment: exogenous insulin subcutaneous injections, diet/excercise
85
Type 2 diabetes?
BGL too high due to: insulin resistance from high central obesity or insufficient insulin production
Symptoms: variable, late onset - polyuria, polydipsia, usually obese, could be asymptomatic
Effects:
-hyperglycaemia -> dehydration -> confusion
-hyperosmolar non-ketoic syndrome
-hypoglycaemia (from treatment) -> coma
Tests: high - fasting glucose, oral/glucose tolerance, plasma glucose, C peptide detectable
Low - urinary ketones
Management (possibly reversible): low calorie diet, exercise, tablets (metformin), bariatric surgery, eventually insulin if req
86
Hypercalcaemia?
High Ca in blood
Due to: malignant osteolytic bone metastasis(breast, lung, renal, thyroid), multiple myeloma
Symptoms: moans (tired, depressed), groans (constipation, ulcers), stones (kidney, polyuria), bones (aches), confusion, coma, renal failure
Tests: High - serum Ca, phosphate, alkaline phosphatase (shows bone turnover). Low - PTH
Treatment: rehydration
87
Hypocalcaemia?
Low Ca in blood
Due to: post thyroidectomy mostly (PT gland removed too)
Symptoms: tingling around mouth & fingers, muscle tetany, carpopedal spasm, Chvostek's sign
88
Hyperparathyroidism?
Overworking PT gland
Due to:
-Primary: adenoma secretes excess PTH (high Ca/alkaline phosphatase/PTH, low phosphate)
-Secondary: hyperplastic gland because of -ve feedback from low Ca -> Vit D deficiency or chronic renal failure (low/normal Ca, high phosphate/alkaline phosphatase/PTH)
Symptoms: moans, groans, stones & bones
89
Osteoporosis?
```
Degeneration of constructed bone
Type 1: high osteoclasts (menopausal women)
Type 2: low osteoblasts (senile)
Effects:
-Decreased bone density
-Normal mineral:matrix ratio
-Normal but not enough bone
-Brittle bones with holes
Risk factors: post menopausal women, low BMI, high steroid use, heavy drinking, smoking, long bed rest
```
90
Osteomalacia?
Due to Vit D deficiency (diet, chronic renal disease)
Effects:
-Low mineral:matrix ratio
-Affects bone building in children (rickets)
-Soft, bendable bones
-Bone pain, muscle weakness, deformity
