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Treatment decision
The most appropriate treatment regimen for
B would be insulin therapy to optimise glycaemic control,
plus renoprotective
anti-hypertensives to try to prevent further progression
of kidney disease. Laser therapy for her proliferative
retinopathy is also a priority to minimise further proliferation
of blood
vessels in the retina and reduce the frequency and severity
of vitreous haemorrhage.
B could achieve good glycaemic control with twice-daily
insulin injections and concomitant self blood glucose monitoring.
She will need training in insulin injection and blood glucose
monitoring. Anti-hypertensive drugs and/or ACE inhibitors
could be added for renoprotection. Reducing blood pressure
is an effective way of preventing renal morbidity and mortality
but, in addition, a number of studies have demonstrated the
renoprotective effects of ACE inhibitors and AII antagonists
beyond that of reducing blood pressure among Type 1 and Type
2 diabetic patients [Brenner
et al, 2000; Heart
Outcomes Prevention Evaluation Study Investigators, 2000; Lewis
et al, 1993].
A detailed letter to B's family doctor should follow the
consultation, including the rationale for the treatment decision,
in order for the physician to provide consistent follow-up
care.
This Chinese patient has maturity onset diabetes of the
young (MODY), which is being increasingly recognised as prevalent
in young Asian patients (Japanese and Chinese). The strong
family history and multiple complications (retinopathy, nephropathy,
neuropathy and dermopathy) at presentation suggest that this
patient had undiagnosed disease for a long time. The history
of diabetes in three generations of her family with a non-ketotic
form of presentation before the age of 25 years fulfil the
clinical definition of MODY, although it is increasingly
known that there is marked genotypic and phenotypic heterogeneity
of young-onset diabetes.
This case emphasises the importance of taking detailed history
(including family history), complete physical examination
in patients, especially those with atypical presentation, and
the need to refer these patients to specialist clinic for
more detailed assessment. There is also a need to screen
for diabetes in family members of patients with genetic forms
of diabetes. In light of the rising prevalence of diabetes,
especially in non-Caucasian populations, and the heterogeneity
of young onset diabetes, it is important that family doctors
and other non-diabetes specialists are aware of such conditions
and the importance of early referral for full assessment
and intensified therapy in these young patients.
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--Interactive
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