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MBChB YR2 Endocrine > Disease Profiles: Diabetes > Flashcards

Disease Profiles: Diabetes Flashcards

1
Q

What is indicated by the arrow?

A

Microaneurysms

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2
Q

Define alcoholic ketoacidosis

A

Metabolic acidosis caused by increased production of ketone bodies with normal or low glucose levels resulting from the combined effects of alcohol and starvation on glucose metabolism

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3
Q

Describe the management of a MODY patient with a glucokinase mutation

A

Managed with diet alone as glucokinase mutations are not associated with increased risk of microvascular disease

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4
Q

Why should good sugar control pre-conception be ensured in a patient with T1/T2DM planning a pregnancy?

A

To limit risk of congenital malformation

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5
Q

Which investigation would you perform 6 weeks after birth in a patient who had gestational diabetes?

A

Fasting glucose or GTT to ensure resolution of DM

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6
Q

What is indicated by the circles?

A

Cotton wool spots

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7
Q

Name the three types of mutation found in MODY patients

A

Glucokinase (14%), transcription factors (75%), MODY X (11%)

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8
Q

Why is the diagnostic criteria for gestational diabetes lower than for other forms of diabetes?

A

FBG>5.5 comes with significant risk of increased weight of offspring at birth

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9
Q

Name two CNS complications for a neonate associated with mother having gestational diabetes

A

Anencephaly, spina bifida

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10
Q

What is the most common modifiable risk factor associated with insulin resistance?

A

Obesity

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11
Q

What is DIDMOAD (Wolfram syndrome)?

A

Genetic condition characterized by diabetes insipidus (DI), childhood-onset diabetes mellitus (DM), a gradual loss of vision caused by optic atrophy (OA), and deafness (D)

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12
Q

Describe the clinical presentation of diabetic ketoacidosis

A

Thirst and polyuria, dehydration

Flushed, vomiting, abdominal pain and tenderness, increased RR, smell ketones on breath

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13
Q

Why is it beneficial for a mother to develop some insulin resistance during pregnancy?

A

Means more nutrients are diverted to the foetus

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14
Q

Education in what areas should be provided to patients with T1DM?

A

How to match prandial insulin dose to carbohydrate intake, pre-meal glucose and anticipated activity, as well as sick day rules

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15
Q

Which patient group is most likely to develop idiopathic (1B) T1DM?

A

Most patients are of African or Asian ancestry

Strongly inherited (not HLA associated)

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16
Q

What causes the microvascular complications in diabetes?

A

Alternative glucose metabolism pathways used to metabolise the excess glucose which result in the generation of reactive oxygen species - harmful

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17
Q

Describe the management of Charcot foot

A

Aim is to prevent/minimise bony destruction by keeping pressure off the foot - non-weight bearing, total contact cast or aircast boot

Consolidation and stabilisation will take 6-12 months

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18
Q

What would be visible on a β-cell biopsy of a patient with T1DM?

A

Insulitis with lymphocytic infiltrate

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19
Q

Name two consequences of diabetic nephropathy

A

Hypertension, relentless decline in renal function

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20
Q

How does increased flux of glucose through the sorbitol-polyol pathway cause vascular damage?

A

Sorbitol accumulates which cause changes in vascular permeability, cell proliferation and capillary structure via stimulation of protein kinase C and TGF-β

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21
Q

What is C-peptide?

A

Substance co-secreted with insulin that is not part of injected insulin; can be used to measure ‘endogenous’ insulin secretion

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22
Q

When should aspirin be started in a pregnant patient with T1/T2DM?

A

12 weeks

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23
Q

Describe the clinical presentation of Leprechaunism (Donohue syndrome)

A

Severe insulin resistance and developmental abnormalities e.g. growth retardation, abscence of SC fat, caused by defects in insulin binding or insulin receptor signalling

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24
Q

Describe the structure of the KATP channel of the β-cell

A

Inward rectifier (pore) subunit and a sulphonylurea receptor

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25
Q

How can a glucokinase mutation cause MODY?

A

Glucokinase activity impaired, resulting in a glucose sensing defect - blood glucose threshold for insulin secretion is increased

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26
Q

Which investigation will show maculopathy?

A

Optical coherence tomography (refer if indicated from retinal screen)

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27
Q

What causes insulin resistance in adipose tissue?

A

Obesity-induced inflammation via pro-inflammatory cytokines e.g. TNF-⍺ which reduces glucose uptake

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28
Q

Which investigation can be used to confirm the type of MODY mutation?

A

Genetic screening

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29
Q

How are advanced glycation end products (AGE) formed?

A

When a wide variety of proteins are exposed to increase glucose concentrations, glucose binds irreversibly to the protein to form AGE

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30
Q

Describe the pathophysiology of hyperglycaemic hyperosmolar syndrome

A

Similar to DKA but enough insulin is produced to suppress lipolysis and therefore ketogenesis

However, insulin level is not high enough to lower blood glucose to a safe level

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31
Q

Name two causes of diabetic ketoacidosis

A

Insulin deficiency e.g. poor self management

Increased insulin demand e.g. infection

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32
Q

How does gestational diabetes cause macrosomia?

A

Maternal hypoglycaemia is transferred across the placenta, resulting in foetal hyperglycaemia

This causes foetal hyperinsulinaemia - insulin is a MAJOR growth factor

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33
Q

Name a genital/GI abnormality for a neonate associated with mother having gestational diabetes

A

Ureteric duplications

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34
Q

What is congenital hyperinsulinism?

A

Inappropriate and unregulated insulin secretion, which results in severe, persistent hypoglycemia in newborn babies, infants, and children

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35
Q

When should folic acid be started in a patient with T1/T2DM planning a pregnancy?

A

At least 3 months prior to conception

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36
Q

Describe the management of a patient with DKA

A

Replace fluid losses - NaCl 0.9%

Replace electrolyte losses - NaCl 0.9%, IV potassium

Insulin replacement

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37
Q

What causes Maturity Onset Diabetes of the Young (MODY)?

A

Single gene mutation (monogenetic) which is dominantly affected and predominantly affects β-cell function

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38
Q

How would you confirm DKA?

A

Diagnosis is confirmed by demonstrating hyperglycaemia (BG) with ketonaemia (ketone monitor) or heavy ketonuria (urine dipstick), and acidosis (ABG)

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39
Q

Name a skeletal abnormality for a neonate associated with mother having gestational diabetes

A

Caudal regression syndrome

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40
Q

What is the most common form of monogenetic diabetes?

A

MODY

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41
Q

Name the hormone produced by trophoblast cells that are surrounding a growing embryo, which eventually forms the placenta after implantation

A

HCG

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42
Q

Which T1DM patient group is associated with GAD 65 antibodies?

A

Females <10 years

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43
Q

Describe the clinical presentation of a MODY patient with a transcription factor mutation

A

Hyperglycaemia starts at adolescence/YA and is progressive

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44
Q

How would you diagnose hyperglycaemic hyperosmolar syndrome?

A

Profound hyperglycaemia (BG >33.3mmol/L), hyperosmolarity (serum osmolarity) and no ketoacidosis (ABG)

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45
Q

What are the cardinal features of Bardet-Biedl syndrome?

A

Truncal obesity, intellectual impairment, renal anomalies, polydactyly, retinal degeneration and hypogenitalism

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46
Q

How would you diagnose T1DM?

A

Fasting or random blood glucose above diagnostic threshold, repeat test if asymptomatic

If doubt - GAD/IA2 antibodies and C peptide may help

HbA1c is not used

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47
Q

What is the first line treatment for T2DM?

A

Metformin + lifestyle management

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48
Q

Describe the management of retinopathy

A

Pan retinal photocoagulation

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49
Q

What is diabetic ketoacidosis?

A

Disordered metabolic state that usually occurs in the context of an absolute or relative insulin deficiency accompanied by an increase in the counter-regulatory hormones; serious complication of type 1 diabetes and, much less commonly, of type 2 diabetes

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50
Q

What percentage of patients with Bardet-Biedl syndrome are affected by diabetes?

A

Up to 45% of patients

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51
Q

Describe the management of hyperglycaemic hyperosmolar syndrome

A

Fluid replacement - NaCl 0.9%

Consider 0.45% saline if sodium dropping too quickly

Start low dose

IV insulin only if significant ketones (>1) or BG falling at a slow rate

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52
Q

Describe the clinical presentation of a patient with hypoglycaemia

A

Pallor, sweating, tremor, palpitations, nausea, hunger, confusion

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53
Q

Which patient group normally presents with hyperglycaemic hyperosmolar syndrome?

A

People present in middle or later life, often with previously undiagnosed diabetes

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54
Q

Which T1DM patient group is associated with IA-2 antibodies?

A

Males, decreases with age

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55
Q

Which patient group is most likely to develop T2DM?

A

Usually occurs later in life (> 45 years), individuals of South Asian, African and Afro-Carribean descent are at greater risk

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56
Q

Name a topical options for the management of painful peripheral neuropathy where oral drug treatment isn’t suitable

A

Topical capsaicin cream

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57
Q

Name 3 non-modifiable risk factors for the development of T2DM

A

Age, genetics, ethnicity

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58
Q

What is IRMA in retinopathy?

A

Abnormalities of blood vesssels/precursor to neovascularisation but blood vessels are patent (not leaking)

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59
Q

What are the two peaks for diagnosis of T1DM?

A

85% of DM in under 20s, peak 10-14 years

25% diagnosed as adults - small peak in late 30s

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60
Q

Describe the insulin regimen of most patients with T1DM

A

Basal (long-acting once daily) bolus (short-acting with meals) regimen which aims to mimic normal endogenous insulin production

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61
Q

What is the BP target for a diabetic patient?

A

<140/80 mmHg

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62
Q

Describe the drug treatment of a pregnant T2DM patient

A

Metformin, will probably need insulin later

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63
Q

Name the gold-standard investigation for measurement of insulin sensitivity

A

Hyperinsulinemic-euglycemic clamp

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64
Q

What causes T2DM?

A

Contribution of genetics and environmental influences, usually the development of insulin resistance and obesity

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65
Q

Describe the genetic susceptibility with regards to development of T2DM

A

Some patients can safely store lots of fat, in others FFAs from obesity will spill into the viscera causing insulin resistance

Some patients have β-cells which are less able to cope with the lipotoxicity and glucotoxicity

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66
Q

What percentage of people with susceptible HLA genes will develop T1DM?

A

5%

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67
Q

Describe the clinical presentation of Rabson Medenhall syndrome

A

Severe insulin resistance, hyperglycaemia and compensatory hyperinsulinaemia

Other clinical features include developmental abnormalities and acanthosis nigricans

Hyperinsulinaemia causes fasting hypoglycaemia

Patients very prone to DKA

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68
Q

Name the fasting blood glucose value for diagnosis of diabetes

A

>/= 7mmol/L

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69
Q

Name the most common side effect of insulin therapy

A

Hypoglycaemia

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70
Q

Define hyperglycaemic hyperosmolar syndrome

A

Severe hyperglycaemia withouth significant ketosis; the characteristic metabolic emergency of T2DM

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71
Q

Describe the results of an oral glucose test in a MODY patient with a glucokinase mutation

A

High fasting blood glucose (~7 mmol) but bring their glucose down very well when given oral challenge

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72
Q

Monogenetic diabetes resulting in defective insulin action involves mutations in genes involved in which processes?

A

Insulin signalling pathway or fat storage

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73
Q

Define retinopathy

A

Damage to the retina

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74
Q

Name 3 autoimmune conditions associated with T1DM

A

Thyroid disease, coeliac disease, Addison’s disease

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75
Q

How can a transcription factor mutation cause MODY?

A

Play key roles in pancreas foetal development and neogenesis, also regulate β-cell differentiation and function

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76
Q

Define proteinuria (overt nephropathy)

A

ACR >30 or PCR >50

Will show up on urine dipstick

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77
Q

Describe the clinical presentation of diabetes (high blood glucose)

A

Polyuria

Thirst and polydipsia

Blurred vision

Genital thrush

Fatigue

Weight loss

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78
Q

Which investigation will show retinopathy?

A

Retinal screening

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79
Q

Describe the pathophysiology of T2DM

A
  1. Obesity
  2. Insulin resistance
  3. Hypersecretion of insulin with loss of biphasic pattern
  4. Hyperglycaemia persists as increased insulin is still insufficient
  5. β-cells are damaged by lipotoxicity and glucotoxicity
  6. Insulin production decreases
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80
Q

What percentage of patients with T1DM diagnosed under 30 have one or both high risk HLA genotypes DR3-DQ2/DR4-DQ8?

A

~95%

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81
Q

Name two eye pathologies associated with diabetes other than retinopathy and maculopathy

A

Cataract, glaucoma

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82
Q

Name the 2hr blood glucose in OGTT value for diagnosis of diabetes

A

>/= 11.1

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83
Q

What type of CF mutations are associated with the development of CFRD?

A

‘Severe’ mutations i.e. 𝝙508

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84
Q

What causes hard exudates seen on retinal screening of a patient with retinopathy?

A

Lipid breakdown products left behind by blood leaking from microaneurysms/haemorrhages

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85
Q

How can autonomic neuropathy affect the digestive system?

A

Gastric slowing/frequency → constipation/diarrhoea (sometimes both)

Gastroparesis

Oesophagus nerve damage - may make swallowing difficult

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86
Q

How does pan retinal photocoagulation treat retinopathy?

A

Reduces oxygen requirement of the retina so reduces the ischaemia that is driving the retinopathy

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87
Q

Which investigation should you perform in a thin patient with gestational diabetes?

A

GAD antibodies

88
Q

Describe the management of microalbuminuria (nephropathy)

A

ACEi/ARB, SGLT2i, management of other vascular complications including BP

89
Q

What is the goal of islet transplantation?

A

Prevent severe hypoglycaemia but about 50-70% of people receiving islet cell transplants also achieve insulin independence after 5 years

90
Q

Define macular oedema (maculopathy)

A

Macular oedema involves clinically significant retinal thickening and oedema involving the macula, hard exudates and macula ischaemia

May occur in all stages of NPDR and PDR

91
Q

Describe a consequence of painless trauma due to peripheral neuropathy

A

Patient may continue to walk on a wounded foot - worsens injury and may lead to infection

92
Q

Define insulin resistance

A

The reduced ability of organs to respond to ‘physiological’ insulin levels, thought to primarily occur through reduced insulin sensing and/or signalling

93
Q

What is the HbA1 target in T2DM?

A

7.0% (53 mmol/mol)

94
Q

What are the indications for islet transplantation in T1DM?

A

Episodes of severe hypoglycaemia

Severe and progressive long-term complications despite maximal therapy

Uncontrolled diabetes despite maximal treatment

95
Q

What is Bardet-Biedl syndrome?

A

Genetic condition that impacts multiple body systems e.g. eyes, brain, kidneys and is associated with consanguineous parents

96
Q

Describe the auto-immune response in T1DM

A

T-cell mediated autoimmune response with production of autoantibodies that target and destroy β-cells

97
Q

Describe the pathophysiology of alcoholic ketoacidosis

A

Accumulation of ketone bodies due to depleted glycogen stores from malnutrition, increased lipolysis and FFA release and volume depletion from e.g. vomiting

98
Q

Name the two hormones released in pregnancy which produce insulin resistance in the mother

A

Placental progesterones and hPL

99
Q

Name the investigation used to differentiate between Charcot foot and infection

A

MRI

100
Q

What causes claw foot in a diabetic patient with peripheral neuropathy?

A

Interosseous wasting results in unbalanced traction by the long flexor muscles → high arch and clawing of toes

101
Q

What causes insulin resistance in skeletal muscle?

A

Impairment of insulin signalling

102
Q

Describe the clinical presentation of T2DM

A

Gradual onset, majority of patients are asymptomatic

Symptoms of complications may be the first clinical sign of disease

When symptomatic, the characteristic features of hyperglycaemia e.g. thirst, polyuria, blurred vision, may not be severe

103
Q

How can a baby of a mother with gestational diabetes become hypoglycaemic shortly after birth?

A

After birth, the baby takes a while to downregulate the hyperinsulinaemia

104
Q

How can autonomic neuropathy affect heart rate?

A

Heart rate may stay high, instead of rising and falling in response to normal bodily functions and physical activity

105
Q

Why do MODY patients with a transcription factor mutation respond well to sulphonylureas?

A

Usually have β-cell function available so are ~4 x more sensitive than patients with T2DM

106
Q

How many non-HLA genes have been associated with T1DM?

A

47

107
Q

Which values would a patient with T1DM monitor?

A

Patients should have a method of self-monitoring their blood glucose and also have access to a ketone monitor

108
Q

HLA genes represent what percentage of familial risk of T1DM?

A

~50%

109
Q

How can autonomic neuropathy affect the blood vessels?

A

BP may drop sharply after sitting or standing, causing a person to feel light-headed/faint (postural hypertension)

110
Q

________ _________ in severe non-proliferative diabetic retinopathy may help prevent long-term visual loss

A

Laser therapy

111
Q

Name the gene which codes for the inward rectifier subunit of the β-cell KATP channel

A

Kir6

112
Q

Describe the clinical presentation of a MODY patient with a glucokinase mutation

A

Hyperglycaemia starts at birth and is stable

113
Q

Describe the management of severe hypoglycaemia (confusion, coma)

A

IM glucagon or IV glucose

114
Q

Describe the management of hypoglycaemia (non-severe)

A

15-20g oral glucose

115
Q

What is acanthosis nigricans?

A

Insulin-driven epithelial overgrowth seen in hyperinsulinaemic states (severe insulin resistance)

116
Q

What causes the dehydration of patients in hyperglycaemic hyperosmolar syndrome?

A

Hyperglycaemia and osmotic diuresis (hyperosmolar urine)

117
Q

Discuss co-morbidities related to hyperglycaemic hyperosmolar syndrome

A

Comorbidities more likely:

Screen for vascular event e.g. silent MI

LMWH for all patients (unless contraindicated)

High risk of feet complications

118
Q

Describe the management of a patient with gestational diabetes

A

Lifestyle, metformin, may need insulin

119
Q

What is Rabson Medenhall syndrome?

A

Monogenetic severe insulin resistance which presents with severe insulin resistance, hyperglycaemia and compensatory hyperinsulinaemia

120
Q

How can a Kir6.2 mutation lead to neonatal diabetes?

A

Constitutively activated KATP channels or increase in KATP numbers

121
Q

What causes T1DM?

A

Environmental trigger in a genetically susceptible individual mediated by an auto-immune process within the pancreatic β-cell

122
Q

What are the indications for a whole pancreas transplant in T1DM?

A

Severe hypoglycaemia/metabolic complications, incapacitating clinical or emotional problems

123
Q

Why should patients with T1DM rotate the insulin injection site?

A

Avoid lipohypertrophy

124
Q

Name 3 modifiable risk factors for the development of T2DM

A

Obesity, poor diet, physical inactivity

125
Q

Name two macrovascular complications of diabetes

A

Ischaemic heart disease, stroke

126
Q

Define microalbuminuria

A

ACR <30 or PCR <50

At least 2/3 positive

127
Q

What is LADA?

A

Latent autoimmune disease in adults - a ‘slow-burning’ variant of type 1A diabetes with slower progression to insulin deficiency that occurs in later life

128
Q

What is Maturity Onset Diabetes of the Young (MODY)?

A

Early onset (usually before age 25) of non-insulin dependent diabetes

129
Q

What is the normal physiological function of ketones?

A

Important molecules of energy metabolism for heart muscle and renal cortex - converted back into acetyl-CoA, which enters TCA cycle

130
Q

Which T1DM patient group is associated with ZnT8 antibodies?

A

Older patients of both sexes

131
Q

Name a respiratory complication for a neonate associated with mother having gestational diabetes

A

Respiratory distress due to immature lungs

132
Q

Why should most patients with T1DM use insulin analogues?

A

Reduces hypoglycaemia risk

133
Q

Name the HbA1c value for diagnosis of diabetes

A

48 mmol/mol (6.5%)

134
Q

Describe the management of alcoholic ketoacidosis

A

IV pabrinex, IV fluid (5% dextrose in 0.9% NaCl), IV anti-emetics, insulin may be required

Further management - address alcohol dependency

135
Q

Why is proliferative retinopathy dangerous to eyesight?

A

Vitreous haemorrhage can occur of the new blood vessels leading to sudden loss of vision

136
Q

What is the diagnostic threshold for diabetes based on (except in gestational diabetes)?

A

Risk of developing diabetic retinopathy

137
Q

Name the gene which codes for the sulphonylurea receptor of the β-cell KATP channel

A

SUR1

138
Q

Describe idiopathic (1B) T1DM

A

Involves patients with permanent insulinopenia and who are prone to DKA but have no evidence of β-cell dysfunction or autoantibodies

Accounts for a minority of patients with T1DM (~5%)

139
Q

What is focal neuropathy?

A

Sudden weakness in one nerve or a group of nerves causing muscle weakness or pain e.g. carpal tunnel syndrome, cranial nerve palsy

140
Q

List the microvascular complications of diabetes

A

Neuropathy, nephropathy, retinopathy

141
Q

What is indicated by the circles?

A

Hard exudates

142
Q

What is Leprechaunism (Donohue syndrome)?

A

Monogenetic severe insulin resistance caused by mutations in the insulin receptor

143
Q

What causes hypoglycaemia?

A

Occurs when more insulin is injected than is needed

144
Q

How would you prevent a patient who has had gestational diabetes from developing T2DM in later life?

A

Keep weight as low as possible - healthy diet, exercise

Monitor with annual fasting glucose

145
Q

How does the presence of FFAs in skeletal muscle result in insulin resistance?

A

Decreases the activity of tyrosine kinase (insulin receptor) and its downstream proteins

Means GLUT4 does not get translocated to the skeletal muscle cell membrane, so it is unable to take up glucose into the cell

146
Q

Describe the clinical presentation of hyperglycaemic hyperosmolar syndrome

A

Polyuria, polydipsia, dehydration

N+V, stupor/coma

147
Q

Define diabetes

A

An elevation of blood glucose above a diagnostic threshold

148
Q

Why is insulin resistance in the liver described as pathway-selective?

A

Glucose uptake is reduced but hepatic lipogenesis remains elevated in insulin-resistant subjects

149
Q

What causes gestational diabetes?

A

Placental progesterones and hPL produce insulin resistance in the mother

If mother is insulin resistant before pregnancy, developing further insulin resistance will raise blood glucose too high and result in gestational diabetes

150
Q

When is a patient who injects insulin most at risk of hypoglycaemia?

A

Before meals, during the night and during or after excercise

151
Q

Describe the administration of insulin for most patients

A

MDI (3-4x injections per day) or CSII

152
Q

What is Charcot foot?

A

Complication of severe neuropathy that occurs in a well-perfused foot

153
Q

What is T1DM?

A

Autoimmune destruction of the pancreatic beta-cells resulting in beta-cell deficiency and therefore absolute insulin deficiency

154
Q

What causes increased lipogenesis in obese, insulin-resistant patients?

A

Increase of FFAs seen in obesity which allows VLDL secretion to increase

155
Q

Which investigations would you perform in suspected alcoholic ketoacidosis?

A

↑ ketones (blood or urea), acidotic ABG

BG usually normal, may be low

156
Q

What are the blood glucose targets for a pregnant patient with T1/T2DM or GDM?

A

Pre meal <4-5.5 mmol

2 hr post meal <6-6.5 mmol/l

157
Q

Describe the clinical presentation of alcoholic ketoacidosis

A

N+V, abdominal pain, increased RR, dehydration

158
Q

Name three environmental factors associated with the development of T1DM

A

Maternal factors, viral infections, vitamin D deficiency

159
Q

What is metabolic syndrome?

A

At least three of the following five medical conditions: abdominal obesity, high blood pressure, high blood sugar, high serum triglycerides, and low serum HDL

Associated with increased risk of CHD, MI, stroke and CV death

160
Q

What is autonomic neuropathy?

A

Neuropathy which affects the nerves regulating heart rate and blood pressure as well as control of internal organs such as those involved in GI motility, respiratory function, urination, sexual function and vision

161
Q

Describe the clinical presentation of neonatal diabetes

A

Polydipsia, polyuria, dehydration, DKA which presents < 6 months (chance of T1DM at this age is >1%)

162
Q

Describe the management of neonatal diabetes

A

Sulphonylureas - inhibit KATP

163
Q

Name three complications of the foetus of a mother with gestational diabetes

A

Macrosomia, polyhydramnios, interuterine death

164
Q

What is indicated by the circles?

A

Dot and blot haemorrhages

165
Q

Which patient group is most likely to develop proximal neuropathy?

A

Elderly T2DM

166
Q

Describe the management of a vitreal haemorrhage

A

Vitrectomy

167
Q

What is CFRD?

A

Cystic fibrosis related diabetes

168
Q

At what week of gestation does foetal organogenesis begin?

A

Week 5

169
Q

What is peripheral neuropathy?

A

Pain/loss of feeling in feet/hands

170
Q

What ECG results would indicate a diabetic patient has lost autonomic control of cardiac function due to autonomic neuropathy?

A

Loss of R-R variability with respiration

171
Q

Describe the clinical presentation of Charcot foot

A

Acute onset of a hot, swollen foot +/- pain

If treatment is delayed, the foot can become deformed as bone is destroyed

172
Q

What is HbA1C?

A

Level of glycated haemoglobin which is proportional to glucose; can give a measure of blood glucose over the last 90 days

173
Q

What is the first line treatment for T2DM patients with heart failure or chronic kidney disease?

A

Metformin + an SGLT2i

174
Q

Name two mutations which can cause congenital hyperinsulinism

A

Kir6.2 or SUR1

175
Q

What is diabetic neuropathy?

A

Damage to the peripheral nervous tissue

176
Q

Describe the management of autonomic neuropathy affecting the sweat glands

A

Topical glycopyrolate, clonidine, botulium toxin

177
Q

When is a whole-pancreas transplantation most often performed?

A

Most often undertaken in people with T1DM and end-stage kidney disease at the same time as a kidney transplant

178
Q

What causes cotton wool spots seen on retinal screening of a patient with retinopathy?

A

Micro-infarcts (ischaemia) due to occluded vessels

179
Q

What is the first line treatment for T2DM patients with atherosclerotic CVD (e.g. previous MI)?

A

Metformin + GLP-1 receptor antagonist

180
Q

What is proximal neuropathy?

A

Pain in the thighs, hips or buttocks leading to proximal muscle weakness and painful wasting

Often associated with weight loss

181
Q

How can ketoacidosis occur in starvation?

A

Oxaloacetate is consumed for gluconeogenesis and when glucose is not avaliable fatty acids are oxidised to provide energy; the excess acetyl-CoA will be converted into ketones

182
Q

What is the calculation for serum osmolarity?

A

(2 x Na+) + glucose + urea

183
Q

What is Kussmaul’s respiration?

A

Deep, rapid breathing pattern associated with severe metabolic acidosis e.g. in DKA

184
Q

Describe the results of an oral glucose test in a MODY patient with a transcription factor mutation

A

Normal fasting blood glucose but don’t respond well to glucose challenge

185
Q

Which T1DM patient group is associated with IAA antibodies?

A

Children of both sexes

186
Q

Name 3 investigations performed at a patient’s yearly diabetic review which screen for diabetic complications

A

Digital retinal screening, foot risk assessment, urine albumin-to-creatinine ratio and serum creatinine

187
Q

What investigations should be performed at an annual review assessment of a patient with T1DM?

A

Weight

Blood pressure

Bloods: HbA1c, renal function and lipids

Retinal screening

Foot risk assessment

188
Q

Why can a missed insulin dose lead to accumulation of ketones and therefore DKA?

A

Body switches to fatty acid oxidation so acetyl-CoA levels will increase

The excess acetyl-CoA is diverted to ketones as glycolysis is reduced due to lack of glucose

189
Q

What is neonatal diabetes?

A

Rare form of monogenic diabetes much of which is caused by mutations in the glucose sensing mechanism e.g. in the ATP sensitive K channel

190
Q

Describe the management of congenital hyperinsulinism

A

Diazoxide - stimulates KATP

191
Q

Describe the clinical presentation of peripheral neuropathy

A

Numbness/insensitivity

Tingling/burning

Sharp pains or cramps

Sensitivity to touch

Loss of balace and coordination

192
Q

Describe the management of maculopathy

A

Intravitreal anti-VEGF

193
Q

Define monogenetic diabetes

A

Diabetes caused by a mutation in a single gene (Mendelian disease)

194
Q

What are the main transcription factor mutations in MODY?

A

HNF-1⍺, HNF-1β, HNF-4⍺

195
Q

What is diabetic nephropathy?

A

Progressive kidney disease caused by damage to the capillaries in the glomeruli

196
Q

What is indicated by the circle?

A

Intra-retinal vascular abnormality (IRMA)

197
Q

How do advanced glycation end products (AGE) cause tissue injury and inflammation?

A

Via stimulation of pro-inflammatory factors, such as complement and cytokines

198
Q

A mother with gestational diabetes increases the risk of the neonate experiencing hypoglycaemia/hypocalcaemia at birth, both of which can cause _____

A

Fits

199
Q

If both patients have HLA alleles what is the percentage risk of the offspring developing T1DM?

A

30%

200
Q

What is proliferative retinopathy?

A

Blockage of blood vessels leads to ischaemia

Ischaemia causes the release of vascular growth factors which cause new blood vessels to grow in the retina

201
Q

Name some pharmacological options for the management of painful peripheral neuropathy

A

Amitriptyline, duloxetine, gabapentin or pregabalin

202
Q

How does the high glucose excretion of a patient in DKA exacerbate the acidosis caused by the ketone accumulation?

A

High glucose excretion creates an osmotic diuresis, resulting in electrolyte loss and dehydration; this decreases renal function

203
Q

What causes increased gluconeogenesis in T2DM?

A

Glucagon secretion is increased in T2DM due to decreased intra-islet insulin

204
Q

What is indicated by the circle?

A

Neovascularisation

205
Q

What is the second line treatment for T2DM patients with heart failure or chronic kidney disease?

A

Metformin + GLP-1 receptor antagonist

206
Q

Which patient group is most likely to develop alcoholic ketoacidosis?

A

Malnourished individuals with AUD; associated with recent episodes of binge drinking complicated by poor food intake, dehydration, and vomiting

207
Q

Describe the management of a MODY patient with a transcription factor mutation

A

Diet + treatment with insulin or sulphonylureas

208
Q

What is non-proliferative (background) retinopathy?

A

Early stages of retinopathy, rated from mild-severe

209
Q

Name the random blood glucose value for diagnosis of diabetes

A

>/= 11.1

210
Q

Name three complications of the foetus of a mother with T1/T2DM

A

Congenital malformation, prematurity, intra-uterine growth retardation (IUGR)

211
Q

Name a complication of the brain which can occur due to DKA, most commonly in children/YAs

A

Cerebral oedema

212
Q

How can autonomic neuropathy affect the sweat glands?

A

Prevents the sweat glands from working properly so the body cannot regulate its temperature as it should

Nerve damage can also cause profuse sweating at night or while eating - gustatory sweating

213
Q

Describe the drug treatment of a pregnant T1DM patient

A

May require increased insulin dose

214
Q

Name two complications of hypokalaemia which can follow DKA

A

Cardiac arrest and paralytic ileus

215
Q

How can a patient with DKA develop hypokalaemia?

A

Although K+ is often raised in DKA, as soon has insulin is given K+ will drop as insulin promotes co-transport of potassium along with glucose into cells

216
Q

What is indicated by the white arrow?

A

Flame haemorrhage

MBChB YR2 Endocrine (23 decks)

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