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RPCA Part 2 > Clinical > Flashcards

Clinical Flashcards

1
Q

Typical age of onset of monogenic diabetes?

A

<25 years

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2
Q

Most common genes affected in monogenic diabetes?

A
  • Hepatocye Nuclear Factor 1alpha (MODY 3)
  • Glucokinase (MODY 2)
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3
Q

Prognostic markers for multiple myeloma indicating high risk (as per revised International Staging System)

A
  • serum B2 microglobulin >5.5mg/L
  • high LDH
  • FISH findings e.g. Del17p, t(4;14)
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4
Q

Antibodies to test for autoimmune diabetes

A
  • GAD autoantibodies
  • ICA (islet cell cytoplasmic autoantibodies)
  • IA-2 (insulinoma associated-2) autoantibodies
  • ZnT8 (Zin transporter 8) autoantibodies
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5
Q

Medications associated with elevated homocysteine

A
  • Fibrates
  • Nicotinic acid
  • Metformin
  • Methotrexate
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6
Q

Juvenile haemochromatosis involves pathogenic variants of which genes?

A
  • HJV (haemojuvelin)
  • HAMP (hepcidin)
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7
Q

Clinical presentation of VIPoma

A
  • profuse watery diarrhoea
  • stools persistent even with fasting and have low faecal osmolar gap (secretory diarrhoea)
  • hypokalaemia
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8
Q

What is VIP and function

A

Vasoactive intestinal polypeptide
- short peptide produced by nerve cells in intestinal tract.
- Causes smooth muscle relaxation
- suppresses gastric acid production
- stimulates intestinal secretion of electrolytes and water

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9
Q

In patients with total thyroidectomy and radioiodine remnant ablation, what should the Tg be?

A

Non-stimulated Tg should be <0.2 ng/mL
Stimulated Tg <1 ng/mL
in the absence of interfering antibodies

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10
Q

In the newly proposed ADIPS guidelines, what is the implication for an HbA1c result of 6.0 - 6.4%

A

Patients with HbA1c of 6-6.5% should have an OGTT prior to 20 weeks (ideally 10-14 weeks)

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11
Q

In the newly proposed ADIPS guidelines, what is the role of HbA1c?

A

Recommended at first antenatal visit for patients with 1 or more risk factor for GDM

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12
Q

In the newly proposed ADIPS guidelines, what are the cut offs for GDM using a 75 2 hour OGTT?

A

Fasting plasma glucose 5.3 - 6.9
1 hr plasma glucose 10.6 or above
2 hr plasma glucose 9 - 11

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13
Q

What is early GDM?

A

GDM diagnosed prior to 20 weeks
(based on same OGTT cut offs for later in pregnancy)

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14
Q

As per newly proposed ADIPS guidelines, who should have early GDM testing with a 75g 2 hr OGTT before 20 weeks?

A
  • previous GDM history
  • early pregnancy HbA1c 6.0 - 6.4%
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15
Q

Causes of functional hypogonadism in adult males

A
  • opiates
  • glucocorticoids
  • acute or chronic illness
  • nutritional deficiency
  • obesity
  • severe sleep disruption including OSA
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16
Q

Which type of insulin autoantibody is associated with greatest risk of progression?

A

IA-2 antibodies

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17
Q

GAD antibodies are non specific and can also be found in…

A

neuro conditions (stiff person syndrome, limbic encephalitis, cerebellar ataxia, epilepsy)
thyroid autoimmunity and
polyglandular syndromes

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18
Q

Gene affected in Hyperparathyroidism-Jaw tumour syndrome

A

CDC73 gene
- responsible for parafibromin production

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19
Q

Relative fractions of bound/unbound 25(OH) vit D in serum

A
  • 85-90% bound to vitamin D binding protein
  • 10-15% bound to albumin
  • <1% free
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20
Q

Clinical features of severe hypophosphataemia may include:

A
  • myopathy
  • respiratory or cardiac failure
  • altered mentation
  • haemolysis
  • rhabdomyolysis
21
Q

Key enzyme responsible for the pathophysiological mechanism of acute porphyrias

A

ALA synthase

22
Q

In the setting of testing for porphyrias, presence of Peptide X is consistent with which type of porphyria

A

Variegate Porphyria
(plasma peak at 626nm is specific to VP)

23
Q

Risk factors for acquired PCT:

A
  • Hepatitis C +/- HIV
  • Haemochromatosis
  • Heavy alcohol consumption
  • Exogenous oestrogens
24
Q

The term protoporphyrias refers to which types of porphyrias?

A
  • EPP
  • X-linked protoporphyria
25
Investigations for MPS?
- urinary GAG concentration - fractionation of GAG by electrophoresis or chromatography and - analysis of oligosaccharides
26
Enzyme affected in Pompe disease
Lysosomal acid alpha-glucosidase (also called acid maltase)
27
IEM that can cause a metabolic acidosis with normal anion gap
 Fanconi-Bickel disease (GSD XI, glucose transporter 2)  Lowe syndrome (oculocerebralrenal)  Cystinosis Secondary renal involvement  Tyrosinaemia type 1  Hereditary fructose intolerance  GSD 1  Mitochondrial disorders  Methylmalonic acidaemia
28
IEM with HAGMA and Ketosis>lactic acidosis or other organics
 Organic acidaemias (propionic, methylmalonic, isovaleric)  Ketone utilisation disorders (beta-ketothiolase deficiency)  Ketotic hypoglycaemia of childhood
29
IEM with HAGMA and Lactic >ketones
 Mitochondrial respiratory chain disorders  Pyruvate dehydrogenase  Disorders of gluconeogenesis or glycogen storage disorders  Fatty acid oxidation disorders (low ketones)
30
IEM that can cause Hyperammonaemia
 Urea cycle disorders  Organic aciduria  Fatty acid oxidation disorders  HMG-CoA lysase deficiency  Carbonic anhydrase VA deficiency  Hyerinsulinism-Hyperammonaemia (glutamate dehydrogenase upregulation)  Pyruvate carboxylase deficiency
31
IEM that can cause hypoglycaemia
 Glycogen storage disorders Types I and III  Fructose 1,6 diphosphatase deficiency  Organic aciduria  Mitochondrial  Disorders of fatty acid oxidation (SCHAD HI)  Glutamate dehydrogenase upregulation (HI)  Congenital disorders of glycosylation (HI) HI = hyperinsulinaemia
32
Findings on plasma amino acid profile for patients with MSUD?
- increased Leucine - increased Isoleucine - Increased Valine **- increased Allo-isoleucine** (most specific)
33
What does 5HIAA stand for
5-hydroxyindoleacetic acid
34
Familial syndromes associated with carcinoid tumours
1. MEN1 2. Von Hippel-Lindau disease (VHL) 3. Neurofibromatosis type 1 (NF-1)
35
Drugs that can cause hyperammonaemia
* **Valproate ** * Carbamazapine * Fluoropyrimidines (5-FU) * Asparaginase
36
Up to approximately what concentration of PSA can be seen with prostatitis/UTI?
150
37
Pre-eclampsia prior to what gestational age is classified as early pre-eclampsia
34 weeks
38
What is the urine protein cut off in assessment for pre-eclampsia
Spot urine protein: Cr ratio > 30mg/mmol
39
21-hydroxylase converts a) 17OHP to ... ? b) Progesterone to ... ?
a) 17OHP to **11-deoxycortisol ** b) Progesterone to **Deoxycorticosterone **
40
Medications that can give isolated increased Normetanephrine results
* Anti-depressants - TCAs, SNRIs, SSRIs * Alpha 2 blockers - Mirtazapine | Note that critical illness can also give significant increases.
41
Medications that can give increase normetanephrine and/or metanephrine results
* Anti-depressants e.g. MAOIs * Sympathomimetics e.g. dexamphetamine, pseudoephedrine * Anti-hypertensives e.g. B blockers increase MN | If both MN and NMN significantly elevated, phaeochromocytoma likely
42
What types of pleural effusions are the main differentials for chylothorax
* cholesterol effusion * empyema
43
Why would you expect TSH to be elevated in a patient with thyroid cancer pre I-131 therapy?
Thyrogen (recombinant TSH) is given pre I-131 therapy to enhance uptake of radioactive iodine by thyroid cancer cells and improve the effectiveness of treatment.
44
Most widely used definition for metabolic syndrome
NCEP Adult Treatment Panel. Defines as any 3 of the following: * abdominal obesity defined by waist circumference * Hypertension * serum **TG > 1.7 mmol/L ** * serum **HDL <1 in males and <1.3 in females ** * Fasting plasma glucose > 5.6 mmol/L | Or drug treatment
45
Indicator for dyslipidaemia that is included in the Australian CVD risk calculator
Ratio of total cholesterol to HDL cholesterol
46
Secondary causes of Hypobetalipoproteinaemia
* vegans * malnutrition * severe liver disease * hyperthyroidism * lipid lowering agents
47
Primary causes of hypobetalipoproteinaemia
* Familial Hypobetalipoproteinaemia * Abetalipoproteinaemia * CM retention disease * Familial combined hypolipidaemia
48
49
Inherited causes of Fanconi syndrome
* cystanosis * tyrosinaemia * galactosaemia * Wilson disease

RPCA Part 2 (4 decks)

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