title: [History case of multiple hepatic adenomas in adolescent with severe course of glycogen storage disease type lb].
abstract: We represented a case history of multiple hepatic adenomas in an adolescent with severe clinical course of glycogen storage disease type lb (compound heterozygous mutations c.1042_1043delCT and c.817G>A in the SLC37A4). The patient was prescribed a raw cornstarch and hepatoprotectors therapy, but he and his parents had low compliance to treatment. At the age of 13,5 years ultrasound investigation and computed tomography revealed multiple adenomas. Due to the severe condition of the patient it was impossible to perform focal hepatic biopsy. At present time the patient receives treatment focused on correction of metabolic disturbances, thereafter an applicability of exploratory puncture will be settled for the further patient surveillance. The modern data on causes and risk factors of hepatic adenomas in such patients, the possibility of their malignization, the algorithm of the follow-up and the methods of treatment are presented in the discussion.
authors.forename: A N
authors.initials: AN
authors.lastname: Surkov
authors.forename: L S
authors.initials: LS
authors.lastname: Namazova-Baranova
authors.forename: A S
authors.initials: AS
authors.lastname: Potapov
authors.forename: K V
authors.initials: KV
authors.lastname: Savost'yanov
authors.forename: A A
authors.initials: AA
authors.lastname: Pushkov
authors.forename: A G
authors.initials: AG
authors.lastname: Nikitin
authors.forename: S I
authors.initials: SI
authors.lastname: Polyakova
authors.forename: M V
authors.initials: MV
authors.lastname: Ryazanov
authors.forename: O V
authors.initials: OV
authors.lastname: Kustova
authors.forename: V I
authors.initials: VI
authors.lastname: Barskii
authors.forename: M Yu
authors.initials: MY
authors.lastname: Stepanyan
mesh_terms: D018248:Adenoma, Liver Cell / Q000473:pathology*; D000293:Adolescent; D001706:Biopsy; D019468:Disease Management; D005820:Genetic Testing; D005952:Glucose-6-Phosphatase / Q000235:genetics; D005953:Glycogen Storage Disease Type I / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D006801:Humans; D008113:Liver Neoplasms / Q000473:pathology*; D008297:Male; D009154:Mutation; D011379:Prognosis; D012720:Severity of Illness Index; D014057:Tomography, X-Ray Computed
chemical_list: D005952:Glucose-6-Phosphatase