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B was admitted from the clinic to the hospital for urgent
laser therapy. She was switched from glibenclamide to twice
daily injections of insulin. She received formal education
from diabetes educators about injection techniques, self
blood glucose monitoring and diet. She underwent other investigations
including a thyroid function test, ECG, chest X-ray and ultrasound
kidney scan, and was started on enalapril 10 mg daily and
nifedipine retard 20 mg bid. She was discharged after one
week and thereafter was followed up at her local diabetes
centre at 3–4 monthly intervals or whenever necessary.
She also received urgent laser therapy for her proliferative
retinopathy.
B was subsequently confirmed to have a genetic mutation
of the hepatic nuclear factor (HNF)1-α,
a transcription factor for insulin synthesis leading to a
more
severe form of diabetes,
as indicated by the extent of her complications. This clinical
phenotype (MODY3) resembles that of Type 2 diabetes with
rapid progression from glucose tolerance to overt diabetes
[Velho and Robert,
2002]. Of B’s two other siblings,
one brother was found to have diabetes on OGTT despite the
lack of symptoms. He was also treated with insulin to optimise
glycaemic control. Due to the late presentation despite maximal
therapy, B developed renal failure ten years after her ‘initial’ presentation.
Her younger brother and sister, despite carrying the same
genetic mutations, remained free of complications, due to
early diagnosis and targeted therapy at the outset.
Click
here for B's test results 4 months after
initial referral.
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