Extra Flashcards
What is acute intermittent polyphyria
Rare AD defect in porphobilinogen deaminase
What is that
Enzyme involved in synthesis of Hb
Leads to toxic accumulation
What are the Sx
Abdo pain
Neuro - motor neuropathy
Psych - depression
Other
Hypertension
Tachycardia
Red urine
How do you Dx
Raised urinary + serum porphobilinogen = toxic
Enzyme assay
When should you consider lead poison
Questions with abdominal pain and neurological signs
What are features
Abdo pain Peripheral neuropathy Fatigue Constipaiton Blue lines on gum margin
How do you Dx
Blood lead level
FBC
Raised serum and urine levels of delta aminolaevulinic acid
Raised urinary coproporphyrin
What does bloods show
Microcytic anaemia
How do you Rx
DMSA
D-penicillamine
EDTA
LOOK AT DIAGRAM OF HB FORMAIION
OK
What is paroxysmal nocturnal haemoglobinuria
Acquire disorder leading to intravascular haemolytic due to increased sensitivity of cell membrane to complement
What are features
Haemolytic anaemia
Pancytopenia
Haemoglobinuria - dark urine
What are complications
Venous thrombosis risk e.g. Budd Chair
Aplastic anaemia
How do you Dx
Flow cytometry of blood
Dectects low levels of complement
How do you Rx
Blood replacement
Monoclonal Ab against protein
Stem cell transplant
Anti-coagulation
