Multiple hepatocellular adenomas in a patient with glycogen storage disease type I: various enhancement patterns in MRI with Gd-EOB-DTPA

Sakamoto, A; Hayashi, Hideyuki; Sakamoto, Ichiro; Isomoto, Ichiro; Eguchi, Susumu; Takatsuki, Mitsuhisa; Kanematsu, Takashi; Abe, Kuniko; Hayashi, Tomayoshi; Uetani, Masataka

doi:10.1007/s00261-011-9721-1

Cited by 12 publications

(10 citation statements)

References 14 publications

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“…However, approximately 10% of hepatic adenomas are known to progress to HCC, and tumor markers, including αFP and CEA, can be negative in these patients with HCC [21,25]. Therefore, regular radiologic follow-ups in patients with hepatic adenomas are considered the main tool for early detection of HCC [26]. The pathogenesis of HCC in GSD I is not well known.…”

Section: Discussionmentioning

confidence: 99%

Predominance of the c.648G > T G6PC gene mutation and late complications in Korean patients with glycogen storage disease type Ia

Kim

Choi

Lee

et al. 2020

Orphanet J Rare Dis

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Background: Glycogen storage disease (GSD) Ia, caused by mutations in the glucose-6-phosphatase (G6PC) gene, is characterized by hepatomegaly, hypoglycemia, lactic acidosis, dyslipidemia, and hyperuricemia. This study aimed to investigate clinical and molecular features and late complications in Korean patients with GSD Ia. Results: Fifty-four Korean patients (33 males and 21 females) from 47 unrelated families, who were diagnosed with GSD Ia, based on genetic and biochemical data, between 1999 and 2017, were included in this study. The median age at diagnosis was 3.9 years (range: 5 months to 42 years), and the follow-up period was 8.0 ± 6.8 years. Most patients presented with hepatomegaly during infancy, but hypoglycemic symptoms were not predominant. Genetic analysis showed that all the patients had at least one c.648G > T allele. Homozygous c.648G > T mutations in the G6PC gene were identified in 34 families (72.3%), and compound heterozygotes with c.648G > T were found in the other families. The allele frequency of c.648G > T was 86.2% (81/94), and p.F51S, p.R83H, p.G122D, p.Y128*, p.G222R, and p.T255A were identified. Of 26 adult patients, 14 had multiple hepatic adenomas, and two were diagnosed with hepatocellular carcinoma. Thirteen patients showed renal complications, and seven patients presented gout, despite preventive allopurinol treatment. Twelve patients had osteoporosis, and two patients had pulmonary hypertension. The final heights were 157.9 cm (standard deviation score: − 3.1) in males and 157.8 cm (standard deviation score: − 0.6) in females. Conclusion: In our Korean patients with GSD Ia, the most common mutation in the G6PC gene was c.648G > T, suggesting a founder effect. Because of only mild hypoglycemia, the patients tended to be diagnosed late. Thus, adult patients with GSD Ia eventually developed diverse and serious complications, which indicates a need for careful monitoring and proper management of this disease.

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Section: Discussionmentioning

confidence: 99%

Predominance of the c.648G > T G6PC gene mutation and late complications in Korean patients with glycogen storage disease type Ia

Kim

Choi

Lee

et al. 2020

Orphanet J Rare Dis

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“…In our study, we did not check for protein induced by vitamin K absence or antagonist II (PIVKA-II), although it was reported that elevation of PIVKA-II is observed in patients with GSD with HCC. 15 There has been no clear conclusion about the imaging characteristics of patients with GSD adenoma, especially one that could suggest malignant transformation. [15][16][17] Nodules could be other lesions such as focal nodular hyperplasia, focal fatty infiltration, focal fatty sparing, hepatoblastoma, or peliosis hepatis, and it is difficult to differentiate these lesions from hepatic adenoma.…”

Section: Discussionmentioning

confidence: 99%

Development of Hepatocellular Carcinoma in Patients with Glycogen Storage Disease: a Single Center Retrospective Study

Jang

Yang

et al. 2020

J Korean Med Sci

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Background: Glycogen storage disease (GSD) is an inherited disorder leading to abnormal glucose metabolism and glycogen accumulation, and is associated with various complications including hepatic adenoma and hepatocellular carcinoma. The aim of this study was to analyze the risk factors for hepatic adenoma and its malignant change, and the hepatocellular carcinoma-free survival rate in patients with GSD who developed adenoma. Methods: A total of 72 patients with GSD who were enrolled from March 1982 to September 2013 at Seoul National University Children's Hospital were retrospectively analyzed, and the median follow-up period was 19.2 years. Results: Thirty-two patients (44.4%) developed hepatic adenoma at an age range of 7.9-26.3 years (median, 14.3 years). Among the 32 patients with hepatic adenoma, 4 patients (12.5%) developed hepatocellular carcinoma on an average interval of 6.7 years between the diagnosis of adenoma and the development of hepatocellular carcinoma. GSD type I and portacaval shunt operation were found to be the risk factors for hepatic adenoma development. The hepatocellular carcinoma-free survival rate at 10 years from adenoma development was 82%. Conclusion:The present study found that portacaval shunt operation increases the risk of development of hepatic adenoma in GSD patients, especially in GSD type I. The hepatic adenoma in GSD patients has a potential of malignant transformation, which should be keep in mind in follow-up process of the disease.

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“…The enhancement of HA is variable [60][61][62]. Most HA are hypointense during the hepatobiliary phase (Fig.…”

Section: Benign Hepatocellular Tumorsmentioning

confidence: 96%

Primovist, Eovist: What to expect?

Beers

Pastor²,

Hussain

2012

Journal of Hepatology

359

338

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Gadolinium ethoxybenzyl dimeglumine (Gd-EOB-DTPA, Primovist in Europe and Eovist in the USA) is a liver-specific magnetic resonance imaging contrast agent that has up to 50% hepatobiliary excretion in the normal liver. After intravenous injection, Gd-EOB-DTPA distributes into the vascular and extravascular spaces during the arterial, portal venous and late dynamic phases, and progressively into the hepatocytes and bile ducts during the hepatobiliary phase. The hepatocyte uptake of Gd-EOB-DTPA mainly occurs via the organic anion transporter polypeptides OATP1B1 and B3 located at the sinusoidal membrane and biliary excretion via the multidrug resistance-associated proteins MRP2 at the canalicular membrane. Because of these characteristics, Gd-EOB-DTPA behaves similarly to non-specific gadolinium chelates during the dynamic phases, and adds substantial information during the hepatobiliary phase, improving the detection and characterization of focal liver lesions and diffuse liver disease. This information is particularly relevant for the detection of metastases, and for the detection and characterization of nodular lesions in liver cirrhosis, including early hepatocellular carcinomas. Finally, GD-EOB-DTPA-enhanced magnetic resonance imaging may provide quantitative assessment regarding liver perfusion and hepatocyte function in diffuse liver diseases. The full potential of GD-EOB-DTPA-enhanced magnetic resonance imaging has to be established further. It is already clear that GD-EOB-DTPA-enhanced magnetic resonance imaging provides anatomic and functional information in the setting of focal and diffuse liver disease that is unattainable with magnetic resonance imaging enhanced with non-specific contrast agents.

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Multiple hepatocellular adenomas in a patient with glycogen storage disease type I: various enhancement patterns in MRI with Gd-EOB-DTPA

Cited by 12 publications

References 14 publications

Predominance of the c.648G > T G6PC gene mutation and late complications in Korean patients with glycogen storage disease type Ia

Predominance of the c.648G > T G6PC gene mutation and late complications in Korean patients with glycogen storage disease type Ia

Development of Hepatocellular Carcinoma in Patients with Glycogen Storage Disease: a Single Center Retrospective Study

Primovist, Eovist: What to expect?

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