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MB2: Endocrinology > monogenic diabetes, complications and emergencies > Flashcards

monogenic diabetes, complications and emergencies Flashcards

1
Q

what is monogenic diabetes?

A

diabetes caused by mutation in a single gene resulting in defects in insulin secretion or action

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2
Q

where would you see acanthosis nigricans

A

hyperinsulinaemic states - severe IR in type 2 or defects in insulin action

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3
Q

MODY is autosomal dominant/recessive

A

dominant

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4
Q

what are the two different types of MODY?

A

defects in transcription factor genes with mitochondrial metabolism
defects in glucokinase causing right shift

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5
Q

describe how glucokinase MODY would appear on OGTT and how this differs from that of T1DM

A

higher fasting blood glucose around 7mmol/L
due to right shift of glucokinase curve blood glucose is brought back under control but back to higher BG
T1DM - normal initial FBG but sharp and uncontrolled increase

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6
Q

true/false - glucokinase mutations conferring MODY has birth onset

A

true

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7
Q

true/false - transcription factor mutations conferring MODY have birth onset

A

false - adolescent/young adult onset

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8
Q

describe management plan for glucokinase MODY

A

no treatment beside dietary
hypothalamus uses glucokinase as set point so it cant really be treated
no association with increased risk of complications

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9
Q

managing HNF1A MODY?

A

suphonylureas 1st line

merformin not very good

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10
Q

you have a type 1 diabetic patient who is a 6m old infant. how do you treat it

A

reconsider diagnosis to KCNJ11/ABCC8 neonatal diabetes as T1DM doesnt usually present prior to 6m
suphonylureas are first line

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11
Q

true/false - in neonatal diabetes pancreatic autoantibodies are still +ve

A

false

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12
Q

why is SU effective in neonatal diabetes

A

act on Katp channel to cause K channel closure and insulin release
due to Katp channel opening consuming oral glucose enables incretin effect via GLP-1

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13
Q

reducing what reduces risk of microvascular complications?

A

HbA1c

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14
Q

what AA conditions are associated with MODY

A 
thyroid disease
coeliac 
addisons 
IgA deficiency 
pernicious anaemia 
autoimmune polyglandular syndromes 
AIRE mutations 
IPEX
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15
Q

what other condition has a strong association with diabetes and severe mutations, with insulin therapy needed

A

Cystic fibrosis

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16
Q

type 1 polyglandular endocrinopathy is associated with?

A

mucocutaneous candidiasis

primary hypoparathyroidism/alopecia/pernicious anaemia

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17
Q

type 2 polyglandular endocrinopathy has association to T1DM. what else is it associated with

A 
addisons 
vitiligo 
primary hypogonadism 
primary hypothyroidism 
coeliac disease
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18
Q

who are islet cell transplants reserved for

A

severe hypoglycaemia
severe and progressive logn term complications despite max therapy
severe uncontrolled diabetes

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19
Q

what outcomes are desired from islet cell transplant

A

insulin independence
reduction in severe hypoglycaemia
improved glycaemic control

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20
Q

define diabetic ketoacidosis

A

absolute/relative insulin deficiency leading to disordered metabolic state with counter regulatory hormones

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21
Q

true/false - DKA is only in T1DM

A

false - it is most common in type 1 but can also occur in type 2 under enough stress

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22
Q

describe the pathophysiology of DKA

A

absolute/relative insulin deficiency activates stress hormones
leads to glyconenesis, proteolysis and decreased glucose use - hyperglycaemia
glycosuria, osmotic diuresis and renal function declines to cause dehydration
increased lipolysis, FFA and ketogenesis leading to increased lactate and acidosis

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23
Q

blood biochem in someone with DKA

A 
ketonaemia >3mmol/L or significant ketonuria >2+
RBG - >11mmol/L or possibly normal 
bicarb <15 or venous pH <7.3 
raised lactate 
low Na 
raised creat 
raised WCC in absent infection
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24
Q

highest causes of death in adults due to DKA

A

aspiration, ARDS, hypokalaemia

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25
Q

highest cause of death in children due to DKA

A

cerebral oedema due to fluid shift

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26
Q

causes of DKA

A 
insulin deficiency, due to new diagnosis or poor management 
infection - pneumonia, UTI
inflammatory - cellulitis, pancreatitis
intoxication - alcohol, cocaine 
infarction - MI, stroke 
iatrogenic surgery, steroids
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27
Q

symptoms of DKA

A 
thirst 
polyuria 
dehydration 
flushed 
ketones on breath 
vomiting 
kussmauls respiration 
underlying sepsis/gastroenteritis
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28
Q

what 4 losses are associated with DKA

A

potassium
phosphate
fluid
sodium

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29
Q

what 4 risks are there with DKA

A

aspiration
sepsis
potassium flux can lead to arrhythmia
thrombo embolism secondary to dehydration

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30
Q

management of DKA?

A 
admit to HDU
3L fluid by 4hr 
insulin 
K when it drops 
phos/bicarb?
NG tube?
monitor K
LMWH
CXR and culture for sepsis
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31
Q

what blood ketone level is normal

A

<0.6 mmol/L

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32
Q

what blood ketone level is at risk of DKA

A

0.6-3 mmol/L

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33
Q

what blood ketone level is defined as ketosis

A

> 3mmol/L

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34
Q

true/false - HHS is more common in type 1 diabetes

A

false - type 2

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35
Q

pathophysiology of HHS

A

relative insulin deficiency causes stress hormone activation
causes increased proteolysis, glycogenolysis, decreased glucose utilisation
hyperglycaemia, fluid loss, decreased renal function, dehydration, osmotic fluid loss and glycosuria
ketosis avoided as there is enough insulin to prevent the ketogenic pathway

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36
Q

biochemical diagnosis of HHS?

A 
hypovolaemia 
hyperglycaemia often >30mmol/L
mild/no ketonaemia <3mmol/L
bicarb <15 or venous pH<7.3
osmolality >320mosmol/kg 
renal impairment 
normal/raised Na
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37
Q

how is osmolality calculated and what is the normal value

A

2xNa +urea+glucose

275-295

38
Q

demographically whos more at risk of HHS

A

older pt or afro-caribbean
high refined CHO pre presentation
sepsis, diuretics
cardiovascular disease

39
Q

causes of HHS

A 
infection - pneumonia, UTI
iatrogenic surgery/steroids/diuretic 
inflammatory cholecystitis/pancreatitis 
infarction 
intoxication
40
Q

management of HHS

A 
fluids 0.9 sodium unless if osmolality is not decreasing, then give 0.45
not usually insulin 
monitor U&E
screen for vascular events 
LMWH
41
Q

describe the pathophysiology of alcohol induced ketoacidosis

A

alcohol inhibits gluconeogenesis to cause decreased insulin and increased glucagon - increased catecholamines and cortisol to lead to volume depletion
less calories in alcohol so leads to reduced glycogen stores
decreased insulin and increased glucagon leads to increased ketogenesis and FFA to liver so acidosis

42
Q

biochemical diagnosis of alcohol ketoacidosis?

A 
glucose normal/low 
bicarb<15mmol/L
ketonaemia >3mmol/L or significant ketonuria 
dehydration 
careful hx
43
Q

management of alcohol ketoacidosis

A 
fluids especially dextrose 
anti emitics 
insulin on occasion 
IV pabrinex 
address alcohol dependency
44
Q

assessing someone admitted to hospital with diabetes?

A 
blood glucose and ketone monitoring 
what type 
DHx 
renal function 
evidence of peripheral/autonomic neuropathy
45
Q

reasons for type 1 diabetes admission

A 
cannot tolerate fluids 
persistent vomiting 
persistent hyperglycaemia 
increasing ketones 
abdominal pain/breathless
46
Q

blood glucose target as an inpatient for T1DM

A

6-10mmol/L

accept 4-12mmol/L

47
Q

what should you pre-assess on a diabetic patient pre surgery

A 
anaesthetic risk 
cardiac function 
autonomic dysfunction 
foot risk 
glycaemic control 
place on surgical risk - place them high on list
48
Q

what is lacate

A

end product glucose through anaerobic metabolism

clearance requires hepatic uptake to convert to pyruvate/glucose before metabolism

49
Q

what is the normal lactate range

A

0.6-1.2mmol/L

50
Q

causes of type A lactic acidosis

A

infact tissue
cardiogenic/hypovolaemic shock
sepsis
haemorrhage

51
Q

causes of type B lactic acidosis

A

liver disease
metformin
rare metabolic conditions

52
Q

presentation of lactic acidosis

A 
hyperventilation 
mental confusion 
coma 
low bicarb
rasied anion gap 
variable glucose 
absent ketones 
raised phosphate
53
Q

management of lactic acidosis

A

treat underlying cause
fluids
Abx

54
Q

describe normal glucose metabolism and suggest what may go wrong

A

glucose oxidised via glycolysis and undergoes TCA and electron transfer to yield ATP
mitochondrial metabolism is not as fast as glycolysis so this can lead to glucose being broken down by alternative pathways

55
Q

what pathways may glucose be broken down under and what are the consequences

A 
polyol pathway
pentose phosphate pathway
hexosamine pathway 
diacyl glycerol pathway 
convert to glycarion end products 
increased ROS, inflammation, osmotic damage, fibrosis
56
Q

how often should a standard diabetic pt be screened for eve disease

A

annually

57
Q

what signs may be seen on fundoscopy indicating mild non-proliferative retinopathy

A

cotton wool spots
hard exudates
dot haemorrhage
microaneurism/blot haemorrhage

58
Q

what signs may be seen on fundoscopy indicating moderate non-proliferative retinopathy

A

multiple blot haemorrhage in one eye field

59
Q

what signs may be seen on fundoscopy indicating severe-non proliferative retinopathy

A

IRMA and microvascular haemorrhages

60
Q

what signs may be seen on fundoscopy indicating proliferative retinopathy

A

retinal detachment/angiogenesis

61
Q

what signs may be seen on fundoscopy indicating maculopathy

A

hard exudates or haemorrhage within 1 disc diameter of macula/fovea

62
Q

management of diabetic retinopathy

A

pan retinal photocoagulation to reduce O2 requirement of retina and ischaemia
vitrectomy if vitreal haemorrhage

63
Q

what is macular oedema, how is it assessed and managed?

A

leaky angiogenesis causing fluid buildup in macula, cannot be effectively cleared
optical coherence tomography
intravitreal anti-VGEF
grid laser to macula

64
Q

what is diabetic nephopahty

A

progressie kidney disease caused by damage to capillaries in kidneys glomeruli
proteinuria and scarring of glomeruli

65
Q

consequences of diabetic nephropathy

A

reduction in GFR by 1ml/month if untreated
development of HTN
accelerated vascular disease

66
Q

what is the normal ACR for males and females

A

<3.5 for females and <2.5 for males

67
Q

describe the biochemical diagnosis of microalbuminuria

A

> 2.5/3.5-<30 OR <50 if PCR

repeat twice and diagnosis established if 2/3 are +v e

68
Q

describe the biochemical diagnosis of proteinuria (overt nephropathy)

A

ACR >30 or PCR >50

69
Q

how do you calculate daily creatinine loss from PCR

A

multiply it by 10

70
Q

what may cause a false positive in microalbuminuria

A 
menstruation 
vaginal discharge 
UTI 
pregnancy 
non-diabetic renal illness
71
Q

if microalbuminuria is established what else should be checked for

A

retinopathy
not another cause for proteinuria
check for PVD, aim for 130/70 HTN, discourage smoking and have HbA1c <53 mmol/L

72
Q

management of microalbuminuria?

A

ACEI/ARB 1st line

SGLT2i

73
Q

how often should diabetics be screened for nephropathy

A

urine alb and serum creat at diagnosis and at least annually

74
Q

what is diabetic amyotrophy

A 
proximal neuropathy 
pain/weakness in hips, thighs, buttocks
prox muscle wasting and weight loss 
more common elderly T2DM
self limiting
75
Q

what is peripheral neuropathy

A

lost feeling in hands/feet with glove/stocking distribution

numb/insensitive, pain/cramp, lost balance, hypersensitive

76
Q

consequences of diabetic peripheral neuropathy

A

charcot foot
foot ulcer
painless trauma

77
Q

management of diabetic peripheral neuropathy

A

gabapentin/amitriptyline

capsaicin cream

78
Q

what is diabetic focal neuropathy

A

weakness in one or a group of nerves

cranial nerve palsy, foot drop, carpal tunnel, bells palsy

79
Q

diabetic autonomic neuropathy symptoms of gut include

A

gastroparesis
nausea, vomiting, boating, lost appetite
smaller meals more frequent, liquid meals
ondansetron, metclopramide, gastric pacing
low dose tricyclics

80
Q

diabetic autonomic neuropathy symptoms of oesophagus nerve damage include

A

dysphagia

81
Q

diabetic autonomic neuropathy symptoms of heart and vessels include

A

postural hypotension - syncope/lightheaded

high heart rate

82
Q

how is diabetic neuropathy causing excess sweating managed

A

botox

topical glycopyrrolate

83
Q

risk factors diabetic neuropathy

A 
type 1 
increased length diabetes 
poor glycaemic control 
high lipids 
genes 
mechanical injury 
alcohol
smoking
84
Q

symptoms of peripheral vascular disease in a diabetic patient

A

cool peripheries
lost peripheral pulses
lost leg hair
dry skin

85
Q

low risk diabetic foot?

A

sensation unimpaired and foot pulses present

annual review

86
Q

moderate/high risk diabetic foot?

A

cannot self care for feet or absent sensation with impaired pulses
previous ulcer or amputation
annual review by podiatrist

87
Q

active diabetic foot?

A

ulcer, infection, critical ischaemia, gangrene, unexplained red, hot, swollen foot
urgent referral

88
Q

what is charcot arthropathy

A

destructive inflammatory process where there is fracture and bony deformity of the foot

89
Q

presentation of charcot arthropathy

A

hot, swollen foot in someone with neuropathy

MRI to differentiate from infection

90
Q

management and complication of charcot arthropathy

A

non-weight bearing
total contact cast/aircast boot
foot ulceration due to mishaping

MB2: Endocrinology (13 decks)

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