endo definitions

Question 1

T1DM
what is it
describe pathway
symptoms

Answer 1

autoimmune destrction of Beta cells leading to absolute insulin deficinecy

lymphocytic infiltation > destruction of B cells > decease in insulin secretion > unable to maintain BGL

toilet, thirsty, tired
candida, blurred vision, DKA,

Question 2

DKA
what is it
when do you get it most
symptoms

Answer 2

occurs in absolute insulin deficiency

non-adherence to insulin

flushed, vomiting, abdo pain, breathlessness, thirst, dehydraiton

Question 3

LADA
who gets it
how to diagnose it

Answer 3

males 25-40

diagnosed by presence of elevated levels of GAD+

Question 4

T2DM

Answer 4

progressive loss of beta cell insulin secretion + insulin resitance (due to increased fatty acids - obese)

Question 5

peripheral neuropathy
what is it
T1 or T2
complications?

Answer 5

pain/ loss of feeling in hands / feet

T1

charcot foot

Question 6

autonomic neuropathy
what is it
symptoms

Answer 6

affects nerves –> changes in bowel, bladder, sexual response, sweating, HR, BP

nausea, vomiting, bloating, body cant regulate temperature - gustatory sweating, cant regulate BP - high BP, postural hypotension

Question 7

proximal neuropathy
who gets it
symptoms

Answer 7

T2 elderly

pain in legs > weakness in legs (starts on one side)

Question 8

nephropathy
what is it
what does it do to kidneys
common biochem

Answer 8

progressive kidney disease
damage to capillaries in kidney’s glomeruli
microalbuminuria

Question 9

MODY
who gets it and when
what types
mutation

Answer 9

non-insulin dependent diabetes
<25
GCK and HNFa
glucokinase not working

Question 10

neonatal diabetes
who gets it
mutations x2
types and symptoms

Answer 10

diabetes within first 3 months
k1r6.2
mutation in gene for K+ channel (cant close > cant depolarise)
transient - diagnosed <1 week, resolves in 12 weeks
permanent - diagnosed 0.6 weeks, lifelong

Question 11

hyperglycaemic hyperosmolar syndrome 
characteristcs
who gets it
cause
symptoms

Answer 11

• hyperglycaemia, hyperosmolarity, dehydration, no ketoacidosis
• T2
• reduction in insulin without rise in cortisol
• polydipsia, polyuria, nausea, vomiting, weakness, lethargy, muscle cramps, fever, high refined carb intake

Question 12

alcohol induced keto acidosis
what is it
symptoms

Answer 12

characterised by hyperketonaemia

• heavy alcohol intake, abdo pain, vomiting, hypotensive and tachypoeic
• dehydrated

Question 13

lactic acidosis 
what causes it 
normal lactate
types 
symtpoms

Answer 13

• build up of lactate in the body which results in low pH
• normal lactate 0.6-1.2
• type a - associated with tissue hypoxaemia
• type b - liver disease, leukaemia, diabetes
• hyperventilation, mental confusion, coma

Question 14

hypothyroidism
genes
primary 
secondary 
symptoms

Answer 14

• assocaited with HLA-DR3 and DR5
• primary –> goitrous (hashimoto’s, iodine deficiency, drug induced eg amiodarone or lithium) or non goitrous (post-albtaive surgery, post radiotherapy, congenital)
• secondary –> disease of hypothalamus and pituitary
• anti-thyroid antibodies
• myxoedema (adults) puffy face, hands, feet, waxy skin
• cretinism (children)
• delayed puberty (children)

Question 15

hashimoto's 
what is it 
antibodies
genes
symptoms

Answer 15

• autoimmune destruction of thyroid tissue + reduced thryoid hormone secretion
• anti Tg + anti PTO
• CTLA + PTPN22
• goitre followed by atrophy