Glycogen storage disease type Ⅰ a: a rare cause of gout in adolescent and young adult patients / 中华内科杂志

ABSTRACT

Objective To analyze the clinical features of secondary gout in glycogen storage disease type Ⅰ a (GSD Ⅰ a),so as to improve the awareness of this disease.Methods The clinical features,laboratory findings,treatments and prognosis of 5 GSD Ⅰ a patients with secondary gout who had been admitted to the Peking Union Medical College Hospital during 2006 to 2016 were collected and analyzed.GSD Ⅰ a was confirmed by liver biopsy and genotyping.Results Among the 5 patients (median age27 years),3 were males and 2 were females.The mean age of gout onset was 17 ranging from 10 to 22 years old.The common manifestations of GSD included hepatomegaly since childhood,hypoglycemia,growth retardation,anemia,hyperlactacidemia and hyperlipidemia.All the 5 patients were complicated with gouty tophi and kidney stone.Gouty tophi and kidney stone were identified 3.8 years and 10.2 years after the first occurrence of articular symptoms,respectively.Renal damage occurred in 3 cases.All the patients underwent several therapeutic modalities including lifestyle intervention,allopurinol,and raw corn starch treatment.Conclusions Determination of the presence of primary disease should be performed actively for young-onset gout with early occurrence of gouty tophi.GSD should be suspected if there exist clinical manifestations like hepatomegaly,recurrent hypoglycemia,growth retardation.Early management of hyperuricemia and gout in GSD patients is important to prevent complications and improve prognosis.