Multiple Adenomas and Hepatocellular Carcinoma in a Renal Transplant Patient With Glycogen Storage Disease Type 1a (Von Gierke Disease)

Goßmann, Jan; Scheuermann, Ernst-Heinrich; Frilling, Andrea; Geiger, H; Dietrich, Christoph F.

doi:10.1097/00007890-200107270-00033

Cited by 20 publications

(17 citation statements)

References 10 publications

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“…Long-term complications include osteoporosis, gout, renal disease, pulmonary hypertension, and hepatic adenomas that may undergo malignant transformation. Renal transplantation in GSD-Ia patients normalized kidney function but failed to correct the metabolic abnormalities [Emmett and Narins, 1978;Chen and Scheinman, 1991;Gossmann et al, 2001], consistent with the primary role of the liver in glucose homeostasis. Presently, in patients who fail to respond sufficiently to dietary therapy, or who exhibit multiple liver adenomas and risk of malignant transformation, orthotopic liver transplantation is advocated [reviewed in Matern et al, 1999;Labrune, 2002].…”

Section: Gsd-iamentioning

confidence: 71%

Gene Therapy for Type I Glycogen Storage Diseases

Chou¹,

Mansfield²

2007

CGT

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The type I glycogen storage diseases (GSD-I) are a group of related diseases caused by a deficiency in the glucose-6-phosphatase-α (G6Pase-α) system, a key enzyme complex that is essential for the maintenance of blood glucose homeostasis between meals. The complex consists of a glucose-6-phosphate transporter (G6PT) that translocates glucose-6-phosphate from the cytoplasm into the lumen of the endoplasmic reticulum, and a G6Pase-α catalytic unit that hydrolyses the glucose-6-phosphate into glucose and phosphate. A deficiency in G6Pase-α causes GSD type Ia (GSD-Ia) and a deficiency in G6PT causes GSD type Ib (GSD-Ib). Both GSD-Ia and GSD-Ib patients manifest a disturbed glucose homeostasis, while GSD-Ib patients also suffer symptoms of neutropenia and myeloid dysfunctions. G6Pase-α and G6PT are both hydrophobic endoplasmic reticulum-associated transmembrane proteins that can not expressed in soluble active forms. Therefore protein replacement therapy of GSD-I is not an option. Animal models of GSD-Ia and GSD-Ib that mimic the human disorders are available. Both adenovirus-and adeno-associated virus (AAV)-mediated gene therapies have been evaluated for GSD-Ia in these model systems. While adenoviral therapy produces only short term corrections and only impacts liver expression of the gene, AAV-mediated therapy delivers the transgene to both the liver and kidney, achieving longer term correction of the GSD-Ia disorder, although there are substantial differences in efficacy depending on the AAV serotype used. Gene therapy for GSD-Ib in the animal model is still in its infancy, although an adenoviral construct has improved the metabolic profile and myeloid function. Taken together further refinements in gene therapy may hold long term benefits for the treatment of type I GSD disorders.

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Section: Gsd-iamentioning

confidence: 71%

Gene Therapy for Type I Glycogen Storage Diseases

Chou¹,

Mansfield²

2007

CGT

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“…18 In view of the presence of simultaneous gain of chromosome 6p and loss of 6q, as seen in HCC, the authors argue in favour of its use as an indicator of risk of malignant transformation. However, these observations do not disprove that HCC can arise as a de-novo metachronous tumour bypassing a preceding adenomatous stage, 10,19 as suggested by the case of Gossmann et al 17 referred to above.…”

Section: Discussionmentioning

confidence: 85%

“…However, these observations do not disprove that HCC can arise as a de‐novo metachronous tumour bypassing a preceding adenomatous stage, 10,19 as suggested by the case of Gossmann et al. 17 referred to above.…”

Section: Discussionmentioning

confidence: 88%

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Hepatocellular adenoma in glycogen storage disorder type I: a clinicopathological and molecular study

et al. 2012

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Further studies are needed to clarify the pathogenesis of hepatocellular adenomas in glycogen storage disease; in particular to determine whether they share abnormal metabolic pathways with inflammatory adenomas in the general population. Testing for acute phase proteins may be a helpful tool in the early detection of HCA in such patients. Finally, there is a need to further define their risk of malignant transformation, in relation to age and possible cofactors.

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“…1 However, a few cases of hepatocellular carcinoma (HCC) have also been described. 3,4 Contrast-enhanced ultrasonography (CEUS) is now recognized as a valuable method for the evaluation of FLLs, especially in the characterization of benign and malignant tumors. 5,6 To our knowledge, no report regarding the use of CEUS in hepatic GSD has been published to date.…”

mentioning

confidence: 99%