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Flashcards in Diabetes Deck (22)
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1
Q

Neonatal diabetes mellitus
Transient in __%
Onset
Lasts

A

50%
But 50-60% then develop DM later
1st week of life; median duration 12w

2
Q

Transient neonatal diabetes
Features
Genetics
Ddx

A

SGA
Hyperglycaemia & glycosuria
Severe dehydration & metabolic acidosis. Minimal ketosis
Umbilical hernia, large tongue

Abnormalities of an imprinted locus on Ch6q24: over expression of paternal genes

Mutations in Katp channels

Ddx hypertonic dehydration

3
Q

Permanent neonatal diabetes
Features
Syndrome of most severely effected
Genes

A

SGA
DEND: dev delay, epilepsy, neonatal distress

Homozygous for GCK (MODY2) or IPF-1 ( MODY4)

Genes which code for Katp

4
Q

What is IPEX
Gene
Role of gene protein

A

Immunodysregulation
Polyendocrinopathy
Enteropathy
X linked

FOXP3 gene
Regulatory T Cells

5
Q

Autoimmune diseases associated with diabetes

A

Chronic lymphocytic thyroiditis

  • 1/5 IDDM have thyroid autoantibodies
  • only a small proportion develop clinical hypothyroidism

When DM & Thyroid coexist: consider autoimmune adrenal disease (from 2nd decade)

Celiac in 7-15% develop in first 6 years of dx
Higher rate in females and <4y

6
Q
MODY3
Gene
Gene protein 
Inheritance pattern 
Rx
Complications
A

HFN1a
Transcription factor
Most common: 50-60%
Glucosuria due to reduced renal threshold
Very sensitive to sulfonylureas
AD inheritance
Microvasular & macrovascular similar to T1DM

7
Q

MODY2
Gene
Phenotype
Rx

A

Glucokinase (GCK)
Mild hyperglycaemia, non progressive
No Rx required

8
Q

MODY1

A

HNF4a
Transcription factor
Can have neonatal hypoglycaemia
Sensitive to sulphonylureas

9
Q
Mitochondrial diabetes 
Gene 
Identical to what mitochondrial condition 
Presents like 
Avoid what drug
A
Point mutation in transfer RNA leucine gene
Identical defect to MELAS
Presents insidiously 
Avoid metformin (theoretical risk of lactic acidosis)
10
Q

Wolfram syndrome
Features in order of occurrence
Gene

A

First decade : IDDM
Second : Central DI and SN deafness
Third : Renal tract anomalies
Fourth : Neurological complications

WFS-1

11
Q

Biguanide

Mechanism of action
Side effects
Avoid in

Example

A

Insulin sensitiser
GI, lactic acidosis
Hepatic, renal failure

12
Q

Sulfonylureas
Mechanism

Example

A

Cause insulin release
Closing the potassium channel Katp on beta cells

Glipizide

13
Q

Proportion of youth patients with T2DM with 2 or more features of metabolic syndrome

Percentage with hypertension

Metabolic syndrome features

A

92%

70%

Hypertension, hypertriglyceridemia, decreased HDL, increased waist circumference

14
Q

Diabetic retinopathy
Risk after 15y duration in T1DM; T2DM

% develop proliferative retinopathy

Features of early / background retinopathy
Clinical effect

Features of proliferative retinopathy

A

98%
78%

Microsneurysms, dot and blot haemorrhages, hard & soft exudates, venous dilation and beading
Do not impair vision

Neovascularisation
Fibrous proliferation
Preretinal & vitreous harmorrhage

Laser Rx for proliferative disease

15
Q

Diabetic nephropathy
% of T1DM after 20y
% of T2DM

Pathogenesis

A

20-30% T1
15-20% of T2 after 20y

Glycation of tissue protein: thickening of GBM

16
Q

Microalbuminuria

Mg/24hr

A

30-300mg/24h

17
Q

Symptoms of hypoglycaemia caused by

A

Surge in catecholamines

18
Q

Insulin counters regulatory hormones

Loss of Hypoglycaemic awareness related to…

A

Growth hormone
Cortisol
Epinephrine
Glucagon

Long standing T1DM - lose ability to secrete glucagon in response to hypoglycaemia

Epinephrine deficiency as part of autonomic neuropathy

19
Q

Calorie needs

0-12mo

1-10y

Young women

Young men

A

120kcal/kg

75-100 kcal/kg

35 kcal/kg

55-80 kcal/kg

20
Q

Nonketotic hyperosmolar coma

Features

A
Severe hyperglycaemia 
Absence or very slight ketosis 
Nonketotic acidosis 
Severe dehydration 
Depressed LOC
Neurological signs
21
Q

DKA

Fluids & insulin

A

Normal saline with potassium maintenance + replacement over 48h

Insulin infusion 0.05-0.1 units/kg/hr

22
Q

DKA

Biochemical definition

A

BSL >11mmol/L

pH < 7.3, bicarb <15 mmol/L (mild)

Ketonuria

Moderate: pH <7.2 and / or bicarb <10

Severe: pH <7.1 and / or bicarb <5