{"title":"成人1型糖尿病患者肝肿大:毛里亚克综合征在发达国家仍然存在。","authors":"Kaveh Fekri, Yalda Soleimanifard, John Y Jun","doi":"10.1210/jcemcr/luaf070","DOIUrl":null,"url":null,"abstract":"<p><p>We report a case of a 19-year-old male with type 1 diabetes mellitus (T1DM) diagnosed at age 2 years, childhood growth retardation, and multiple admissions for diabetic ketoacidosis, presenting with hepatomegaly and elevated liver transaminase. His hemoglobin A1c (HbA1c) was 13.1% (reference range, < 5.7%). Massive hepatomegaly without splenomegaly was noted and accompanied by significant liver enzyme derangement, and lactatemia. Extensive viral, serologic, genetic, and metabolic tests to identify the etiology of hepatomegaly were unrevealing. A liver biopsy showed microvesicular and macrovesicular steatosis with periportal and lobular inflammation consistent with glycogenic hepatopathy (GH) of Mauriac syndrome. A continuous subcutaneous insulin infusion therapy was initiated and gradually titrated. With an improvement in HbA1c down to 9.2% over 9 months, liver transaminase levels became normalized. The current report includes a thorough evaluation of causes of hepatomegaly in an adult with T1DM and highlights the importance of glycemic control in ameliorating GH.</p>","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"3 5","pages":"luaf070"},"PeriodicalIF":0.0000,"publicationDate":"2025-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11997650/pdf/","citationCount":"0","resultStr":"{\"title\":\"Hepatomegaly in an Adult With Type 1 Diabetes Mellitus: Mauriac Syndrome Still Exists in a Developed Country.\",\"authors\":\"Kaveh Fekri, Yalda Soleimanifard, John Y Jun\",\"doi\":\"10.1210/jcemcr/luaf070\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>We report a case of a 19-year-old male with type 1 diabetes mellitus (T1DM) diagnosed at age 2 years, childhood growth retardation, and multiple admissions for diabetic ketoacidosis, presenting with hepatomegaly and elevated liver transaminase. His hemoglobin A1c (HbA1c) was 13.1% (reference range, < 5.7%). Massive hepatomegaly without splenomegaly was noted and accompanied by significant liver enzyme derangement, and lactatemia. Extensive viral, serologic, genetic, and metabolic tests to identify the etiology of hepatomegaly were unrevealing. A liver biopsy showed microvesicular and macrovesicular steatosis with periportal and lobular inflammation consistent with glycogenic hepatopathy (GH) of Mauriac syndrome. A continuous subcutaneous insulin infusion therapy was initiated and gradually titrated. With an improvement in HbA1c down to 9.2% over 9 months, liver transaminase levels became normalized. The current report includes a thorough evaluation of causes of hepatomegaly in an adult with T1DM and highlights the importance of glycemic control in ameliorating GH.</p>\",\"PeriodicalId\":73540,\"journal\":{\"name\":\"JCEM case reports\",\"volume\":\"3 5\",\"pages\":\"luaf070\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2025-04-15\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11997650/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"JCEM case reports\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1210/jcemcr/luaf070\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/5/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"JCEM case reports","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1210/jcemcr/luaf070","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/5/1 0:00:00","PubModel":"eCollection","JCR":"","JCRName":"","Score":null,"Total":0}
Hepatomegaly in an Adult With Type 1 Diabetes Mellitus: Mauriac Syndrome Still Exists in a Developed Country.
We report a case of a 19-year-old male with type 1 diabetes mellitus (T1DM) diagnosed at age 2 years, childhood growth retardation, and multiple admissions for diabetic ketoacidosis, presenting with hepatomegaly and elevated liver transaminase. His hemoglobin A1c (HbA1c) was 13.1% (reference range, < 5.7%). Massive hepatomegaly without splenomegaly was noted and accompanied by significant liver enzyme derangement, and lactatemia. Extensive viral, serologic, genetic, and metabolic tests to identify the etiology of hepatomegaly were unrevealing. A liver biopsy showed microvesicular and macrovesicular steatosis with periportal and lobular inflammation consistent with glycogenic hepatopathy (GH) of Mauriac syndrome. A continuous subcutaneous insulin infusion therapy was initiated and gradually titrated. With an improvement in HbA1c down to 9.2% over 9 months, liver transaminase levels became normalized. The current report includes a thorough evaluation of causes of hepatomegaly in an adult with T1DM and highlights the importance of glycemic control in ameliorating GH.