RANDOM Flashcards
Three recommended reasons for referral for further investigation of atherosclerotic renal artery stenosis?
- Refractory hypertension (BP >150/90 mmHg despite 3 antihypertensives)
- Recurrent episodes of pulmonary oedema despite normal left ventricular function
- Rise of >20% serum creatinine or fall of GFR >15% over 12 months with high clinical suspicion of widespread atherosclerosis, or during the first 2 months after initiation with an ACE inhibitor or angiotensin receptor blocker.
STATS: how to use sensitivity and specificity?
High sensitivity helps to rule out disease (SnOut) and a high specificity helps to rule in (SpIn) disease
What is T4 RTA?
Type 4 renal tubular acidosis is caused by hypoaldoseteronism, resulting in reduction in proximal tubular ammonium excretion.
What causes t4 rta?
Type 4 renal tubular acidosis is not a tubular disorder at all, but is included in the classification as it is associated with a mild (normal anion gap) metabolic acidosis due to a physiological reduction in proximal tubular ammonium excretion. The underlying cause of this is hypoaldoseteronism, due to either:
primary deficiency
hyporeninaemic hypoaldosteronism, or
aldosterone resistance (caused by eplerenone, spironolactone, trimethoprim, pentamidine, or pseudohypoaldosteronism).
Biochemical features of T4 RTA?
It can also be caused by collecting duct dysfunction from renal insufficiency. The cardinal feature is hyperkalaemia and normal urinary acidification.
Sodium wasting is a variable feature of type 4 renal tubular acidosis, as aldosterone normally enhances sodium reabsorption. It is not usually as marked as in this case, but it is possible the diuretic has exacerbated it.
Which enzyme is the target of the antibodies found in primary biliary cirrhosis?
Pyruvate dehydrogenase (PD)
What does pyruvate dehydrogenase (PD) do?
generates pyruvate from phosphoenolpyruvate
Pyruvate dehydrogenase (PD), required for the generation of acetyl-CoA from pyruvate for entry into the tricarboxylic acid (TCA) cycle, is found in the mitochondria.
Anti-mitochondrial antibodies (AMAs), the serological hallmark of primary biliary cirrhosis (PBC), are often targeted against pyruvate dehydrogenase.
Pompe’s disease is a deficiency of what?
alpha-glucosidase
and is also known a*s glycogen storage disease *type 2.
Pompe’s disease: symptoms
Myopathy
Restrictive cardiomyopathy
Hepatomegaly
can be treated with supplementation of the enzyme.
What is Achondroplasia ?
- Autosomal dominant condition
- commonest forms of short-limbed dwarfism
- Caused by an activated point-mutation of the fibroblast growth factor receptor 3 (at 4p16.3).
Achondroplasia -incidence increases with?
Increasing paternal age
Ulnar neuropathy causes?
(3)
- ring and little finger paraesthesia
- hypothenar wasting
- weak thumb adduction
What is typically elevated in Gaucher’s disease?
acid phosphatase
What is typically reduced in Gaucher’s disease?
glucocerebrosidase
What causes psuedohypoparathyroidism
Mutation of the PTH receptor with abnormality of the Gs alpha subunit with reduced cyclic adenosine monophosphate (cAMP) production
