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African Health Sciences
Makerere University Medical School
ISSN: 1680-6905 EISSN: 1680-6905
Vol. 15, No. 4, 2015, pp. 1339-1341
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Bioline Code: hs15183
Full paper language: English
Document type: Case Report
Document available free of charge
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African Health Sciences, Vol. 15, No. 4, 2015, pp. 1339-1341
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Permanent neonatal diabetes mellitus - a case report of a rare cause of diabetes mellitus in East Africa.
Nyangabyaki-Twesigye, Catherine; Muhame, Michael Rugambwa & Bahendeka, Silver
Abstract
Diabetes mellitus is a metabolic disease characterised
by chronically high glucose levels. Genetic factors have
been implicated in the aetiology following mutations in
a single gene. An extremely rare form of diabetes mellitus
is monogenic diabetes, a subset of which is permanent
neonatal diabetes, and is usually suspected if a
child is diagnosed with diabetes at less than 6 months
of age.
We present the first case reported from East Africa of
a child diagnosed with permanent neonatal diabetes resulting
from a mutation in the KCNJ11 gene encoding
the Kir6.2 subunit.
Despite the rarity of permanent neonatal diabetes, this
diagnosis should be considered in infants with persistent
hyperglycaemia requiring insulin therapy. Children
with an ATP-sensitive potassium channel defect in the
pancreatic beta cell have an overall good prognosis
when treated with oral sulphonylurea therapy.
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© Copyright 2015 - African Health Sciences
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