diabetes (T2DM, monogenic, T1DM) Flashcards

1
Q

describe the genetics of T2DM

A

common complex disease, thousands of genetic variants that contribute, more variants = higher risk

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2
Q

which type of diabetes is more genetic

A

type 2

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3
Q

what is T2DM associated with

A

obesity, hypertension, hdperlidipaemia, hyperglycaemia, PCOS, depression (poor diet)

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4
Q

what is the pathology of T2DM

A

beta cells can’t handle increased glucose –> insulin resistance, beta cell hyperplasia –> cell failure

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5
Q

what is the typical presentation of T2DM

A

obese (>30 BMI), middle aged, ‘non insulin dependent’, blurred vision, thirsty, UTI’s tired, polyurea

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6
Q

what testing should be done for suspected T2DM

A

fasting glucose (>7), random plasma (>11.1), BMI, BP, urinaylsis, bloods (HbA1c, creatinine)

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7
Q

what are the treatment principles of T2DM

A

treat symptoms, prevent microvascular complications, prevent CV risk, prevent complications (retinopathy etc)

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8
Q

what is the treatment step up plan for managing T2DM (general mild –> severe)

A

1) lifestyle factors, 2) therapeutic lifestyle changes, 3) monotherapy (metformin or SURs), 4) combination therapy (no insulin) 5) combination with insulin

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9
Q

what % of weight loss is needed for T2DM go into remission

A

10-15%

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10
Q

what is first line treatment in T2DM

A

metformin

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11
Q

what is used instead of metformin first line and why

A

SURs eg gliclazide, tolbutamide (if intolerant or osmotic symptoms)

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12
Q

what are 2nd line add on therapies in T2DM

A

usually SURs, SGLT2i, DPP4 or piogliatazone

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13
Q

after triple therapy in T2DM what can be added

A

basal insulin injection before bed

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14
Q

what additional therapies can be given in T2DM

A

atorvostatin for cholesterol (over 40) (antiplatelets)

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15
Q

what is MODY (mature onset diabetes of the young)

A

a non-autoimmune disease, autosomal dominant inheritance ie monogenic

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16
Q

when does MODY usually present

A

aged 10-40, usually FH of diabetes

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17
Q

is MODY insulin dependent

A

no

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18
Q

what testing can be done for MODY

A

blood glucose, HbAc1, auto-antibodies as EXCLUSION of T1DM (GAD, IA2, ZnT8, low C peptide)

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19
Q

what mutation is present in MODY 2

A

glucokinase

20
Q

describe MODY 2 presentation

A

onset at birth, stable hyperglycaemia, secrete insulin at higher levels, glucosuria

21
Q

how can MODY 2 usually be managed

A

diet control

22
Q

what mutation is present in MODY 1/3

A

HNF1/4 (respectively)

23
Q

describe MODY 1/3 presentation

A

young adult onset, progressive hyperglycaemia, complications

24
Q

how can MODY 1/3 usually be managed

A

SURs eg gliclazide, tolbutamide

25
Q

what mutations are usually present in neonatal diabetes

A

kir6.2 or SUR1

26
Q

describe transient neonatal diabetes (TNDM)

A

diagnosed within a week, resolves in 3 months with insulin

27
Q

describe permanent neonatal diabetes

A

diagnosed weeks 0-6, lifelong insulin, K channel mutations, SUR treatment

28
Q

what is T1DM

A

autoimmune disease where body cannot produce insulin - HLA mutation

29
Q

what are the symptoms of T1DM

A

young, tired, thin, thirsty (polydipsia), toilet (polyuria), blurred vision, candida infections, itchy skin

30
Q

what investigations are done for T1DM

A

random glucose >11.1, fasting glucose >7, HbAC1 >7% or >58, autoantibodies

31
Q

what autoantibodies are present in T1DM

A

GAD, ZnT8, IA2, low C-peptide (3 years after development)

32
Q

what are common types of insulin injections (7)

A

rapid acting, short acting, intermediate, long acting, rapid and intermediate mix, short acting and intermediate mix, basal insulins

33
Q

what are basal insulins and name common ones (3)

A

background insulin out-with meals eg insulatard, lantus, levemir

34
Q

what other ways can insulin be taken

A

orally and inhaled

35
Q

what is a basal bolus regime in T1DM

A

common and effective - short-acting before meals, long acting over night

36
Q

what is a once-daily regime in T1DM

A

longacting at night- not very effective for type 1

37
Q

what is a twice-daily regime in T1DM

A

pre breakfast and dinner - hypos common

38
Q

what are pumps

A

short acting insulin subcut, dictated by basal rate, calculated by counting carbs

39
Q

what is a freestyle libre

A

blood monitoring in arm

40
Q

what are limitations of insulin

A

have to be injected subcutaneously - muscle too deep, lipohypertrophy, needs constant review

41
Q

what are non-insulin therapies in T1DM

A

metformin, lepin, GLP1, pancreas transplant

42
Q

when is a pancreas transplant indicated

A

severe hypoglycaemia, complications, mentally unstable

43
Q

what ratio is insulin given to carbs

A

1:10

44
Q

what is the main treatment principles of T1DM

A

diet and insulin

45
Q

what are symptoms of hyperglycaemia

A

thirst, polyuria, nocturia, thrush, blurred vision, cognitive/ mood changes, DKA

46
Q

what are symptoms of hypoglycaemia

A

pale, sweating, tremor, palpitations, confusion, tired, coma