Misdiagnosis as steatohepatitis in a family with mild glycogen storage disease type 1a |
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Authors: | Jeng-Jer Shieh Yung-Hsiu Lu Shi-Wei Huang Yu-Hsiu Huang Chih-Hao Sun Hong-Jen Chiou Chinsu Liu Ming-Yu Lo Ching-Yuang Lin Dau-Ming Niu |
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Institution: | Institute of Biomedical Sciences, National Chung Hsing University, Taichung, Taiwan; Department of Education and Research, Taichung Veterans General Hospital, Taichung, Taiwan. |
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Abstract: | The manifestations of glycogen storage disease type 1a (GSD 1a) are usually so prominent in childhood that it is readily diagnosed by pediatricians. However, a mild form of the disease may only become apparent during adolescence or adulthood. We observed a brother and sister with subtle manifestations of the disease, which was discovered after the brother's son was diagnosed with typical GSD 1a. The adult siblings never suffered from hypoglycemia, had normal fasting blood glucose and liver transaminases at the time of diagnosis, and were taller than average for Chinese. Their only notable disease manifestations were recurrent gouty arthritis associated with hyperuricemia and hyperlipidemia during adolescence. When diagnosed, the brother had multiple benign and malignant hepatic tumors, and died of fulminant metastatic hepatocellular carcinoma 6months after liver transplantation. p.M121V/p.R83H and p.M121V/p.M121V genotypic constellations of the G6PC gene were identified in this family. Both siblings were homozygous for the newly identified p.M121V mutation. The infant had compound heterozygous mutations, p.R83H and p.M121V. We recommend that mild GSD should be considered in the adolescents with unexplained hyperuricemia and hyperlipidemia, despite the presence of normal blood glucose levels. This report also reminds us that hepatocellular carcinoma could develop even in very mild GSD 1a patients. |
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Keywords: | AFP alpha-fetoprotein BMI body mass index cDNA DNA complementary to RNA CEA carcinoembryonic EDTA ethylenediaminetetraacetic acid EGFP enhanced green fluorescent protein GSD glycogen storage disease type GSD 1a glycogen storage disease type 1a G6Pase glucose 6-phosphatase G6PC glucose-6-phosphatase catalytic HEPES-buffer 4-(2-hydroxyethyl)-1-piperazineethanesulfonic acid buffer PCR polymerase chain reaction pEGFP plasmid enhanced green fluorescent protein WT wild-type |
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