An Adult Case with Hunters Syndrome Presenting Prominent Hepatic Failure: Light and Electron Microscopic Features of the Liver

Yoshimoto, Tsuyoshi; Nakamuta, Makoto; Kotoh, Kazuhiro; Kohjima, Motoyuki; Morizono, Shusuke; Miyagi, Yugo; Sakai, Hironori; Enjoji, Munechika

doi:10.2169/internalmedicine.45.6005

Cited by 5 publications

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References 8 publications

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“…This finding is consistent with the results of Resnick, et al,8 who reported fibrotic changes in liver biopsy samples from 27 infant MPS cases. Hepatic fibrosis in patients with MPS has been reported in the literature, mainly in adult cases 9,10. Parfrey and Hutchins suggested that hepatic fibrosis is due to abnormal accumulation of hepatotoxic metabolites 9.…”

Section: Discussionmentioning

confidence: 99%

Changes in Glycogen and Glycosaminoglycan Levels in Hepatocytes of Iduronate-2-Sulfatase Knockout Mice before and after Recombinant Iduronate-2-Sulfatase Supplementation

et al. 2011

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PurposeMucopolysaccharidosis II (MPS II) is a lysosomal storage disorder caused by a deficiency of iduronate-2 sulfatase (IdS), which is involved in the degradation of glycosaminoglycan (GAG). In this study, the frequency of fasting hypoglycemia in patients with MPS II was investigated and changes in accumulation of glycogen and GAG in the hepatocytes of IdS-knockout (KO) mice were evaluated before and after recombinant IdS enzyme replacement therapy (ERT).Materials and MethodsPlasma glucose levels were evaluated after an 8-hour fast in 50 patients with MPS II. The IdS-KO mice were divided into three groups (group 2; saline, group 3; 0.15 mg/kg of IdS, and group 4; 0.5 mg/kg of IdS); wild-type mice were included as controls (group 1). ERT was initiated intravenously at four weeks of age, and continued every week until 20 weeks of age.ResultsThe mean glucose level after an 8-hour fast was 94.1 ± 23.7 mg/dL in the patients with MPS II. Two (4%) out of 50 patients had fasting hypoglycemia. For the mice, GAG in the lysosomes nearly disappeared and glycogen particles in the cytoplasm were restored to the normal range in group 4.ConclusionGlucose metabolism in patients with MPS II appeared to function well despite hepatocytic GAG accumulation and hypothetical glycogen depletion. A higher dose of IdS infusion in MPS II mice led to disappearance of lysosomal GAG and restoration of glycogen to the cytoplasm of hepatocytes.

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