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

monogenic diabetes, complications and emergencies Flashcards

(90 cards)

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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
highest cause of death in children due to DKA
cerebral oedema due to fluid shift
26
causes of DKA
``` insulin deficiency, due to new diagnosis or poor management infection - pneumonia, UTI inflammatory - cellulitis, pancreatitis intoxication - alcohol, cocaine infarction - MI, stroke iatrogenic surgery, steroids ```
27
symptoms of DKA
``` thirst polyuria dehydration flushed ketones on breath vomiting kussmauls respiration underlying sepsis/gastroenteritis ```
28
what 4 losses are associated with DKA
potassium phosphate fluid sodium
29
what 4 risks are there with DKA
aspiration sepsis potassium flux can lead to arrhythmia thrombo embolism secondary to dehydration
30
management of DKA?
``` admit to HDU 3L fluid by 4hr insulin K when it drops phos/bicarb? NG tube? monitor K LMWH CXR and culture for sepsis ```
31
what blood ketone level is normal
<0.6 mmol/L
32
what blood ketone level is at risk of DKA
0.6-3 mmol/L
33
what blood ketone level is defined as ketosis
>3mmol/L
34
true/false - HHS is more common in type 1 diabetes
false - type 2
35
pathophysiology of HHS
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
36
biochemical diagnosis of HHS?
``` 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 ```
37
how is osmolality calculated and what is the normal value
2xNa +urea+glucose | 275-295
38
demographically whos more at risk of HHS
older pt or afro-caribbean high refined CHO pre presentation sepsis, diuretics cardiovascular disease
39
causes of HHS
``` infection - pneumonia, UTI iatrogenic surgery/steroids/diuretic inflammatory cholecystitis/pancreatitis infarction intoxication ```
40
management of HHS
``` 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
describe the pathophysiology of alcohol induced ketoacidosis
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
biochemical diagnosis of alcohol ketoacidosis?
``` glucose normal/low bicarb<15mmol/L ketonaemia >3mmol/L or significant ketonuria dehydration careful hx ```
43
management of alcohol ketoacidosis
``` fluids especially dextrose anti emitics insulin on occasion IV pabrinex address alcohol dependency ```
44
assessing someone admitted to hospital with diabetes?
``` blood glucose and ketone monitoring what type DHx renal function evidence of peripheral/autonomic neuropathy ```
45
reasons for type 1 diabetes admission
``` cannot tolerate fluids persistent vomiting persistent hyperglycaemia increasing ketones abdominal pain/breathless ```
46
blood glucose target as an inpatient for T1DM
6-10mmol/L | accept 4-12mmol/L
47
what should you pre-assess on a diabetic patient pre surgery
``` anaesthetic risk cardiac function autonomic dysfunction foot risk glycaemic control place on surgical risk - place them high on list ```
48
what is lacate
end product glucose through anaerobic metabolism | clearance requires hepatic uptake to convert to pyruvate/glucose before metabolism
49
what is the normal lactate range
0.6-1.2mmol/L
50
causes of type A lactic acidosis
infact tissue cardiogenic/hypovolaemic shock sepsis haemorrhage
51
causes of type B lactic acidosis
liver disease metformin rare metabolic conditions
52
presentation of lactic acidosis
``` hyperventilation mental confusion coma low bicarb rasied anion gap variable glucose absent ketones raised phosphate ```
53
management of lactic acidosis
treat underlying cause fluids Abx
54
describe normal glucose metabolism and suggest what may go wrong
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
what pathways may glucose be broken down under and what are the consequences
``` polyol pathway pentose phosphate pathway hexosamine pathway diacyl glycerol pathway convert to glycarion end products increased ROS, inflammation, osmotic damage, fibrosis ```
56
how often should a standard diabetic pt be screened for eve disease
annually
57
what signs may be seen on fundoscopy indicating mild non-proliferative retinopathy
cotton wool spots hard exudates dot haemorrhage microaneurism/blot haemorrhage
58
what signs may be seen on fundoscopy indicating moderate non-proliferative retinopathy
multiple blot haemorrhage in one eye field
59
what signs may be seen on fundoscopy indicating severe-non proliferative retinopathy
IRMA and microvascular haemorrhages
60
what signs may be seen on fundoscopy indicating proliferative retinopathy
retinal detachment/angiogenesis
61
what signs may be seen on fundoscopy indicating maculopathy
hard exudates or haemorrhage within 1 disc diameter of macula/fovea
62
management of diabetic retinopathy
pan retinal photocoagulation to reduce O2 requirement of retina and ischaemia vitrectomy if vitreal haemorrhage
63
what is macular oedema, how is it assessed and managed?
leaky angiogenesis causing fluid buildup in macula, cannot be effectively cleared optical coherence tomography intravitreal anti-VGEF grid laser to macula
64
what is diabetic nephopahty
progressie kidney disease caused by damage to capillaries in kidneys glomeruli proteinuria and scarring of glomeruli
65
consequences of diabetic nephropathy
reduction in GFR by 1ml/month if untreated development of HTN accelerated vascular disease
66
what is the normal ACR for males and females
<3.5 for females and <2.5 for males
67
describe the biochemical diagnosis of microalbuminuria
>2.5/3.5-<30 OR <50 if PCR | repeat twice and diagnosis established if 2/3 are +v e
68
describe the biochemical diagnosis of proteinuria (overt nephropathy)
ACR >30 or PCR >50
69
how do you calculate daily creatinine loss from PCR
multiply it by 10
70
what may cause a false positive in microalbuminuria
``` menstruation vaginal discharge UTI pregnancy non-diabetic renal illness ```
71
if microalbuminuria is established what else should be checked for
retinopathy not another cause for proteinuria check for PVD, aim for 130/70 HTN, discourage smoking and have HbA1c <53 mmol/L
72
management of microalbuminuria?
ACEI/ARB 1st line | SGLT2i
73
how often should diabetics be screened for nephropathy
urine alb and serum creat at diagnosis and at least annually
74
what is diabetic amyotrophy
``` proximal neuropathy pain/weakness in hips, thighs, buttocks prox muscle wasting and weight loss more common elderly T2DM self limiting ```
75
what is peripheral neuropathy
lost feeling in hands/feet with glove/stocking distribution | numb/insensitive, pain/cramp, lost balance, hypersensitive
76
consequences of diabetic peripheral neuropathy
charcot foot foot ulcer painless trauma
77
management of diabetic peripheral neuropathy
gabapentin/amitriptyline | capsaicin cream
78
what is diabetic focal neuropathy
weakness in one or a group of nerves | cranial nerve palsy, foot drop, carpal tunnel, bells palsy
79
diabetic autonomic neuropathy symptoms of gut include
gastroparesis nausea, vomiting, boating, lost appetite smaller meals more frequent, liquid meals ondansetron, metclopramide, gastric pacing low dose tricyclics
80
diabetic autonomic neuropathy symptoms of oesophagus nerve damage include
dysphagia
81
diabetic autonomic neuropathy symptoms of heart and vessels include
postural hypotension - syncope/lightheaded | high heart rate
82
how is diabetic neuropathy causing excess sweating managed
botox | topical glycopyrrolate
83
risk factors diabetic neuropathy
``` type 1 increased length diabetes poor glycaemic control high lipids genes mechanical injury alcohol smoking ```
84
symptoms of peripheral vascular disease in a diabetic patient
cool peripheries lost peripheral pulses lost leg hair dry skin
85
low risk diabetic foot?
sensation unimpaired and foot pulses present | annual review
86
moderate/high risk diabetic foot?
cannot self care for feet or absent sensation with impaired pulses previous ulcer or amputation annual review by podiatrist
87
active diabetic foot?
ulcer, infection, critical ischaemia, gangrene, unexplained red, hot, swollen foot urgent referral
88
what is charcot arthropathy
destructive inflammatory process where there is fracture and bony deformity of the foot
89
presentation of charcot arthropathy
hot, swollen foot in someone with neuropathy | MRI to differentiate from infection
90
management and complication of charcot arthropathy
non-weight bearing total contact cast/aircast boot foot ulceration due to mishaping

MB2: Endocrinology (13 decks)

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