Other things to know Flashcards
1
Q
Gaucher’s disease
A
Beta-glucosidase deficiency
Autosomal recessive disorder of lipid metabolism
2
Q
Sx/signs of Gaucher’s disease (4)
A
Hepatosplenomegaly Neurological disfunction Bone erosions (particularly long bones) Pingueculae (orange deposits in subconjunctiva and brown/yellow discolouration of the skin)
3
Q
Sx/signs of homocysteinusria (5)
A
Malar flush Arachnodactyly Ectopia lentis Gneralised osteoporosis Mental retardation
4
Q
What is Bartter syndrome?
A
A set of closely related autosomal recessive conditions that affect ion transport in the renal tubules. Results in hypokalaemia, hypochloraemia, metabolic alkalosis, hypereninaemia with normal blood pressure.
5
Q
Common sx/signs of Bartter syndrome in an infant
A
Hypokalaemia, hyponatraemia, hypochloridaemia Fever Dehydration Growth retardation Nephrocalcinosis
