MODY & Neonata Diabetes Flashcards
MODY
maturity onset diabetes of the young
MODY
maturity onset diabetes of the young
what are the 2 distinct types of MODY?
glucokinase mutations
transcription factor mutations
when does glucokinase mutation MODY occur?
at birth
what happens in glucokinase mutation MODY?
stable hyperglycaemia
how is glucokinase mutation MODY treated?
with diet
when does transcription factor mutation MODY occur?
adolescence/young adult
what happens in transcription factor mutations MODY?
progressive hyperglycaemia
how is transcription factor mutation MODY treated?
diet, OHA, insulin
how likely are complications in transcription factor mutation MODY?
very
how likely are complications in glucokinase mutation MODY?
rare
in which transcription factor does the mutation occur in this type of MODY?
HNF-1alpha
HNF-1beta
HNF-4alpha
what are the 2 types of neonatal diabetes?
transient neonatal diabetes (TNDM)
permanent neonatal diabetes (PNDM)
when is TNDM usually diagnosed?
when does TNDM usually resolve?
12 weeks old
what is TNDM treated with?
insulin
when is PNDM usually diagnosed?
0-6 weeks after birth
how is PNDM treated?
lifelong treatment with insulin
what kind of inheritance does MODY exhibit?
autosomal dominant
which of the types of transcription factor mutation MODY are sensitive to sulphonylureas?
HNF-1alpha
does glucosekinase mutation MODY require treatment?
non
what mutations can cause neonatal diabetes & how likely is this?
rare
potassium channel gene mutations
what are the 2 distinct types of MODY?
glucokinase mutations
transcription factor mutations
when does glucokinase mutation MODY occur?
at birth
what happens in glucokinase mutation MODY?
stable hyperglycaemia
how is glucokinase mutation MODY treated?
with diet
when does transcription factor mutation MODY occur?
adolescence/young adult
what happens in transcription factor mutations MODY?
progressive hyperglycaemia
how is transcription factor mutation MODY treated?
diet, OHA, insulin
how likely are complications in transcription factor mutation MODY?
very
how likely are complications in glucokinase mutation MODY?
rare
in which transcription factor does the mutation occur in this type of MODY?
HNF-1alpha
HNF-1beta
HNF-4alpha
what are the 2 types of neonatal diabetes?
transient neonatal diabetes (TNDM)
permanent neonatal diabetes (PNDM)
when is TNDM usually diagnosed?
less than 1 week after birth
when does TNDM usually resolve?
12 weeks old
what is TNDM treated with?
insulin
when is PNDM usually diagnosed?
0-6 weeks after birth
how is PNDM treated?
lifelong treatment with insulin
what kind of inheritance does MODY exhibit?
autosomal dominant
which of the types of transcription factor mutation MODY are sensitive to sulphonylureas?
HNF-1alpha
does glucosekinase mutation MODY require treatment?
non
what mutations can cause neonatal diabetes & how likely is this?
rare
potassium channel gene mutations