| BackgroudGlycogen Storage Disease Type la(GSD la)is a rare congenital inherited metabolic disorder,caused by deficient activity of glucose-6-phosphatase-a.Hyperuricemia are almost always present and gout and renal dysfunction frequent late complications.These patients may mistakenly be diagnosed as having idiopathic hyperuricemia and associated gout,leading to the underlying secondary causes be overlooked and thus,diagnostic delays may occur.Being the diagnosis made usually in childhood,the follow up is done in pediatric centers.As the life expectancy has improved considerably,these patients reach adult life and need to maintain follow up of the complications associated with the natural history of the disease.Early diagnosis and treatment are important for improving quality of life,reducing the damaging effects on organs,and extending the patient's lifespan.Gout is not uncommon in adult patients with GSD Ia,especially in those with insufficient metabolic control.Joints are commonly involved which may be misdiagnosed as rheumatic diseases.Up to now,there are few studies focus on the clinical features and treatment of hyperuricemia and gout associated with GSD Ia,and there is no consensus as when to treat hyperuricemia with medications.Objective The aim of the present study was to explore the clinical features of secondary hyperuriemia/gout in patients with glycogen storage disease type Ia(GSD la),so as to improve the awareness of this disease.Methods GSD Ia patients with hyperuriemia who had been admitted to our hospital during 1999 to 2019 were analyzed retrospectively.Clinical diagnosis of GSD Ia was confirmed in all patients through G6PC gene sequencing of DNA.Patients were divided into two groups:Adult group and Children group.The clinical characteristics were compared between the two groups.This study also analyzed the clinical characteristics,laboratory findings,treatments and prognosis of adult patients with GSD Ia-related hyperuriemia.Adult patients were assigned to one of two subgroups(gout group and non-gout group),the clinical characteristics,treatments,and prognosis were compared between the two groups.Results 185 GSD la patients with hyperuriemia were enrolled,including 95 adult patients and 90 children.There were 107 males and 78 females,with a mean age of 18 years.The most common manifestations of GSD la included hepatomegaly since childhood,hypoglycemia,growth retardation,diarrhea,epistaxis,anemia,hyperlactacidemia and hyperlipidemia.Among them,osteoporosis occurred in 45 cases,and focal liver masses occurred in 42 cases.The incidences of abdominal distention,epistaxis,splenomegaly,focal liver masses,kidney stone,renal enlargement,proteinuria,hematuresis,and osteoporosis were signifificantly higher in adult group than in the children group.Thirty-one of 95 adults patients were complicated with gout.The mean age of onset of gout was 18 years,ranging from 10 to 29 years old.Fifteen of 31 cases of patients with gout were complicated with gouty tophi,and the average time for the incidence of gouty tophi was 2 years after the first occurrence of articular symptoms.All the patients underwent several therapeutic modalities including lifestyle intervention and raw corn starch treatment,47 of 95 patients received allopurinol,resulting in significant improvement in symptoms.Incidence of renal calculus,serum uric acid level,cholesterol level,platelet level,mean age at diagnosis for GSD and initial age of regular treatment with raw corn starch in gout group were significantly higher than those in non-gout group.The proportion of the patients treated with uric-acid reducing drug before gouty arthritis in the gout group was significantly lower than that in the non-gout group.The incidence of gout in patients with GSD la-related hyperuricemia significantly correlates with the patient's age to start regular raw corn starch,usage of uric acid-lowering drugs during hyperuricemia,serum uric acid level and cholesterol.Conclusion Determination of the presence of primary disease should be performed 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.The long-term regulatory management and treatment of hyperuricemia should be emphasized early.Early management of hyperuricemia in GSD patients is important to prevent complications and improve prognosis.Since the incidence of gout in patients with GSD la-related hyperuricemia significantly correlates with the patient's age to start regular raw corn starch,usage of uric acid-lowering drugs during hyperuricemia,and blood uric acid level,it' s recommended to start long-term standardized management and treatment early.Patients with asymptomatic hyperuricemia should use uric acid-lowering drug early in addition to raw corn starch and life style intervention,to help reduce the risk of gout. |
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