Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011854 (type 1 diabetes)
 20,749 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Mauriac syndrome is characterized by growth impairment, Cushingoid features, and hepatomegaly in patients with poorly controlled type 1 diabetes mellitus (T1DM). We report a novel presentation of Mauriac syndrome in a 9-year-old girl who was diagnosed with neonatal diabetes at 3 months of age due to the p.R201C mutation in KCNJ11. She was initially treated successfully with glipizide at a dose of 0.85 mg/kg/day but after being lost to follow-up and having improper adjustment in dose over many years, the recent dose of 0.6 mg/kg/day appears to have been insufficient for glycemic control but enough to maintain a low level of C-peptide and prevent diabetic ketoacidosis. With proper insulin administration, all presenting clinical characteristics were resolved within 1 month. A review of the literature relating to clinical manifestations of Mauriac syndrome in children with diabetes was performed and included in this report for comparison with our patient. While Mauriac syndrome has been traditionally associated with T1DM, the presence of Mauriac syndrome should not be excluded in other types of diabetes mellitus.
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PMID:A girl with permanent neonatal diabetes due to KCNJ11 mutation presented with Mauriac syndrome after improper adjustment in sulfonylurea dosage over 6 years. 2742 45

Glycogenic hepatopathy (GH) is an underdiagnosed complication of uncontrolled type 1 diabetes mellitus (T1DM). It appears as an acute relapsing hepatitis with reversible transaminase elevations secondary to excessive hepatic glycogen accumulation. Patients are often asymptomatic but can present with abdominal pain, nausea and vomiting. Physical examination shows hepatomegaly without splenomegaly. GH is diagnosed by biopsy as it is clinically indistinguishable from non-alcoholic fatty liver disease (NAFLD), a more common cause of hepatic dysfunction in diabetics. Here we describe a case of GH in a patient with uncontrolled type 1 diabetes whose clinical course was complicated by drug-induced liver injury. The patient initially presented with diabetic ketoacidosis and had a mild transaminitis, thought to be due to NAFLD. She developed profound transaminase elevations while receiving treatment with newer antipsychotic medications for her bipolar disorder. Liver biopsy showed evidence of resolving glycogenic hepatopathy with signs of drug-induced liver injury. This case report reviews the pathology and pathogenesis of GH and reminds the clinician to keep GH within the differential diagnosis for severe transaminitis in a patient with type 1 diabetes mellitus.
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PMID:Drug-Induced Liver Injury in the Setting of Glycogenic Hepatopathy. 2822 73

Glycogenic hepatopathy (GH) is a rare complication of poorly controlled type 1 diabetes mellitus (T1DM), and is characterized by elevated liver enzymes, hepatomegaly, and glycogen accumulation. We herein present the case of a 23-year-old man with poorly controlled T1DM who had liver dysfunction. Imaging studies showed severe hepatomegaly and fatty liver. The examination of a liver biopsy specimen revealed fatty droplets, ballooning, inflammation, and mild fibrosis. Subsequent periodic acid-Schiff (PAS) staining after diastase digestion confirmed GH. In this case, the improvement of hyperglycemia, not HbA1c, resulted in the improvement of the patient's liver function. This is the first report on the use of continuous glucose monitoring in patients with GH to show that continuous hyperglycemia may worsen GH.
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PMID:Glycogenic Hepatopathy in Type 1 Diabetes Mellitus. 2927 70

Glycogenic hepatopathy (GH) is a rare complication of the poorly controlled diabetes mellitus characterized by the transient liver dysfunction with elevated liver enzymes and associated hepatomegaly caused by the reversible accumulation of excess glycogen in the hepatocytes. It is predominantly seen in patients with longstanding type 1 diabetes mellitus and rarely reported in association with type 2 diabetes mellitus. Although it was first observed in the pediatric population, since then, it has been reported in adolescents and adults with or without ketoacidosis. The association of GH with hyperglycemia in diabetes has not been well established. One of the essential elements in the pathophysiology of development of GH is the wide fluctuation in both glucose and insulin levels. GH and non-alcoholic fatty liver disease (NAFLD) are clinically indistinguishable, and latter is more prevalent in diabetic patients and can progress to advanced liver disease and cirrhosis. Gradient dual-echo MRI can distinguish GH from NAFLD; however, GH can reliably be diagnosed only by liver biopsy. Adequate glycemic control can result in complete remission of clinical, laboratory and histological abnormalities. There has been a recent report of varying degree of liver fibrosis identified in patients with GH. Future studies are required to understand the biochemical defects underlying GH, noninvasive, rapid diagnostic tests for GH, and to assess the consequence of the fibrosis identified as severe fibrosis may progress to cirrhosis. Awareness of this entity in the medical community including specialists is low. Here we briefly reviewed the English literature on pathogenesis involved, recent progress in the evaluation, differential diagnosis, and management.
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PMID:Glycogenic hepatopathy: A narrative review. 2952 55

Glycogenic hepatopathy is a rare but potentially reversible condition characterized by hepatomegaly and elevated liver enzymes occurring in poorly controlled type 1 diabetes mellitus patients and often requires a liver biopsy to confirm the diagnosis. We present the case of a young man who was admitted with diabetic ketoacidosis in the setting of poorly controlled diabetes mellitus type 1 and was noted to have significantly elevated transaminases that continued to worsen despite appropriate treatment of the diabetic ketoacidosis. A liver biopsy confirmed the diagnosis of glycogenic hepatopathy and the patient improved with diabetes control. The aim of this report is to shed light on possible causes of significant elevation of liver enzymes in patients presenting with diabetic ketoacidosis. In addition, we would like to raise awareness about the diagnosis, management, and prognosis of glycogenic hepatopathy and how to differentiate it from other hepatic conditions that have a similar presentation.
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PMID:Young Man with Hepatomegaly: A Case of Glycogenic Hepatopathy. 2985 Mar

Glycogen hepatopathy (GH), characterized by reversible transaminitis and hepatomegaly, results from excessive accumulation of glycogen in hepatocytes. GH has been well described in the literature as a rare cause of transaminitis in children and young patients with uncontrolled type 1 diabetes mellitus and has rarely been reported in type 2 diabetic patients. Hyperglycemia and hyperinsulinemia are believed to be a metabolic substrate for hepatic glycogen accumulation and in order to cause glycogen hepatotoxicity. We present the case of a 54-year-old woman with poorly controlled insulin-dependent type 2 diabetes who was hospitalized twice within 1 month with diabetic ketoacidosis/hyperosmolar hyperglycemic state and reversible transaminitis. Interestingly, she had normal liver function tests performed at the time of admission and transaminitis was noted 1 day later, after she was treated with high doses of intravenous insulin therapy. Subsequently, liver enzymes recovered to normal levels with optimization of glucose control.
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PMID:Glycogen Hepatopathy: A Rare and Underrecognized Cause of Recurrent Transaminitis in Patients with Uncontrolled Type 2 Diabetes Mellitus. 3028 79

LRBA deficiency was first described in 2012 as an autosomal recessive disorder caused by biallelic mutations in the LRBA gene (OMIM #614700). It was initially characterized as producing early-onset hypogammaglobulinemia, autoimmune manifestations, susceptibility to inflammatory bowel disease, and recurrent infection. However, further reports expanded this phenotype (including patients without hypogammaglobulinemia) and described LRBA deficiency as a clinically variable syndrome with a wide spectrum of clinical manifestations. We present the case of a female patient who presented with type 1 diabetes, psoriasis, oral thrush, and enlarged liver and spleen at the age of 8 months. She later experienced recurrent bacterial and viral infections, including pneumococcal meningitis and Epstein Barr viremia. She underwent two consecutive stem cell transplants at the age of 8 and 9 years, and ultimately died. Samples from the patient and her parents were subjected to whole exome sequencing, which revealed a homozygous 1-bp insertion in exon 23 of the patient's LRBA gene, resulting in frameshift and premature stop codon. The patient's healthy mother was heterozygous for the mutation and her father tested wild-type. This finding suggested that either one copy of the paternal chromosome 4 bore a deletion including the LRBA locus, or the patient inherited two copies of the mutant maternal LRBA allele. The patient's sequencing data showed a 1-Mb loss of heterozygosity region in chromosome 4, including the LRBA gene. Comparative genomic hybridization array of the patient's and father's genomic DNA yielded normal findings, ruling out genomic copy number abnormalities. Here, we present the first case of LRBA deficiency due to a uniparental disomy (UPD). In contrast to classical Mendelian inheritance, UPD involves inheritance of 2 copies of a chromosomal region from only 1 parent. Specifically, our patient carried a small segmental isodisomy of maternal origin affecting 1 Mb of chromosome 4.
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PMID:LRBA Deficiency in a Patient With a Novel Homozygous Mutation Due to Chromosome 4 Segmental Uniparental Isodisomy. 3038 43

Mauriac syndrome, first described in 1930, is typically diagnosed in young patients with poorly controlled type 1 diabetes mellitus and growth retardation, delayed puberty, Cushingoid features, hypercholesterolaemia and hepatomegaly. However, the sole presenting feature of Mauriac syndrome can be hepatic glycogenosis in both adults and children. The mainstay of treatment for hepatic glycogenosis is strict control of glucose levels, with an excellent prognosis with improved glycaemic control. The authors present the case of a 22-year-old female patient with type 1 diabetes mellitus and a history of poor glycaemic control who was admitted with diabetic ketoacidosis (DKA). She complained of episodes of right upper quadrant abdominal pain associated with nausea and vomiting for the last 2 months with worsening in the last 48 hours. Physical examination was remarkable for short stature and tenderness over the hepatic area with a mildly enlarged liver. The patient had elevated liver enzymes and persistent hyperlactacidaemia despite DKA resolution. Liver imaging suggested diffuse fat infiltration. The clinical suspicion of hepatic glycogenosis was confirmed by liver biopsy. After glycaemic control was improved, liver enzymes normalized and the episodes of abdominal pain, nausea and vomiting subsided.
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PMID:Mauriac Syndrome: A Rare Complication of Type 1 Diabetes Mellitus. 3075 94

Glycogenic hepatopathy (GH) is a rare complication of poorly controlled type 1 diabetes mellitus (T1DM). We present a 19-year-old woman with T1DM and autoimmune thyroiditis who admitted to our department because of abrupt onset intermittent abdominal pain in the right upper quadrant accompanied by laboratory evidence of acute anicteric hepatitis. Physical examination revealed significant hepatomegaly but the common imagining studies were negative. Following exclusion of common causes of acute hepatitis and because of the presence of smooth muscle antibodies in a young female patient with already established two autoimmune diseases, a liver biopsy was performed in order to exclude the potential presence of autoimmune hepatitis. However, liver histology showed typical findings of GH. Intense treatment targeting strict glycemic control resulted in normalisation of liver biochemistry. This case underlines that GH should be considered as a rare cause of acute hepatitis in T1DM patients with poor glycemic control.
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PMID:Glycogenic hepatopathy as a cause of severe deranged liver enzymes in a young patient with type 1 diabetes mellitus. 3089 43

Glycogenic hepatopathy is excessive intrahepatic glycogen accumulation. It is a rare complication of long-standing, poorly controlled type 1 diabetes mellitus. We report a case of a 19-year-old woman with a history of poorly controlled diabetes mellitus and frequent admissions for diabetic ketoacidosis, who presented with abdominal pain, nausea, vomiting, and hepatomegaly. She was found to have diabetic ketoacidosis with persistently elevated serum lactate that did not improve with insulin infusions. She eventually underwent a liver biopsy, which showed excessive intracytoplasmic glycogen accumulation consistent with glycogenic hepatopathy.
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PMID:Glycogenic Hepatopathy. 3162 May 18


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