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.jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117 J+Community+Hosp+Intern+Med+Perspect
2016 ; 6
(5
): 32983
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gab.com Text
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English Wikipedia
Glucokinase mutation-a rare cause of recurrent hypoglycemia in adults: a case
report and literature review
#MMPMID27802864
Ajala ON
; Huffman DM
; Ghobrial II
J Community Hosp Intern Med Perspect
2016[]; 6
(5
): 32983
PMID27802864
show ga
BACKGROUND: Hypoglycemia occurs frequently in patients both in the inpatient and
outpatient settings. While most hypoglycemia unrelated to diabetes treatment
results from excessive endogenous insulin action, rare cases involve functional
and congenital mutations in glycolytic enzymes of insulin regulation. CASE: A
21-year-old obese woman presented to the emergency department with complaints of
repeated episodes of lethargy, syncope, dizziness, and sweating. She was referred
from an outside facility on suspicion of insulinoma, with severe hypoglycemia
unresponsive to repeated dextrose infusions. Her plasma glucose was 20 mg/dl at
presentation, 44 mg/dl on arrival at our facility, and remained low in spite of
multiple dextrose infusions. The patient had been treated for persistent
hyperinsulinemic hypoglycemia of infancy at our neonatal facility and 4 years ago
was diagnosed as having an activating glucokinase (GCK) mutation. She was then
treated with octreotide and diazoxide with improvement in symptoms and blood
glucose levels. CONCLUSION: Improved diagnostication and management of uncommon
genetic mutations as typified in this patient with an activating mutation of the
GCK gene has expanded the spectrum of disease in adult medicine. This calls for
improved patient information dissemination across different levels and aspects of
the health care delivery system to ensure cost-effective and timely health care.