Von Gierke’s disease – case report

Abstract

Von Gierke’s (DG) disease, or type I glycogenesis, is an autosomal recessive disorder characterized by an impaired activity of
glucose-6-phosphatase enzyme. It is associated with delayed
growth, recurrent infections, hyperuricemia, dyslipidemia, anemia,
renal dysfunction and hepatic adenomas. Treatment consists of
maintaining appropriate physiological glucose levels. CASE REPORT: 24-year old female patient diagnosed with DG in her second
year of life as a result of an investigation due to delayed growth
and hepatomegaly. A fractionated diet based on carbohydrates
was initiated. Cognitive disability has developed, dyslipidemia and
hyperuricemia were diagnosed at age of 8 and 10 years of age,
respectively. As an adult, she was referred to an Internal Medicine
department. It was detected hypothyroidism and hepatic nodules,
with the histological study revealing adenomas. At age of 21, she
developed anemia as a consequence of menorrhagia. At age of
22, arterial hypertension was noticed. Nephrotic proteinuria was
observed in the last examination. The authors present this case
because describes a condition rarely seen in an Internal Medicine ward or outpatient clinic that warrants continuous clinical
monitoring due to the risk of metabolic, cardiovascular, hepatic
and renal complications.