Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019209 (hepatomegaly)
 5,798 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A retrospective study on severe malnutrition concerning children hospitalized at the Pediatric ward of Dr. Pirngadi Hospital, Medan from January 1 to December 31, 1988 was conducted. Patients less than five years old were included in this study. The purpose of this study was to know the incidence of severe malnutrition, its symptoms and signs, the immunization status, feeding pattern and socio-economic factors. Out of the 3370 hospitalized patients, 2453 (72.78%) were children under five years old. Of these, 312 (12%) suffered from severe malnutrition. It consisted of marasmus 131 (41.9%), marasmic kwashiorkor 94 (30.1%) and kwashiorkor 87 (27.8%). The highest incidence was found in the age group of 0-2 years (58%). Clinical manifestation of marasmus were old man face (131 or 100%), muscular hypotrophy (118 or 71.9%) and decreased subcutaneous fat (116 or 71.1%) in marasmic kwashiorkor children 46 or 50% had their hair easily picked out, 45 or 46.3% showed hyperpigmentation and 48 or 52% had pretibial edema in the kwashiorkor group 29 or 63% had moon face, 52 or 60.4% showed crazy pavement dermatosis, 77 or 51.3% had hepatomegaly and 87 or 48% pretebial edema. Moon face was seen in 29 (63%), crazy Pavement Dermatosis in 52 (60.4%), hepatomegaly in 77 (51.3%), and pretebial edema in 87 (48%) of kwashiorkor cases. The accompanying diseases were mostly diarrhea (95%) and bronchopneumonia (22%). Immunization status showed that BCG comprised 50.6%, while DPT III and OPV III in 13.7% and 10.5% respectively and measles only 0.64%. More than half (59.6%) of them were breast-fed up to 6 months.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Clinical features of severe malnutrition at the pediatric ward of Dr. Pirngadi Hospital Medan. 207 61

Hepatic glycogenosis (HG) in type 1 diabetes is a underrecognized complication. Mauriac firstly described the syndrome characterized by hepatomegaly with altered liver enzymes, growth impairment, delay puberty and Cushingoid features, during childhood. HG in adulthood is characterized by the liver disorder (with circulating aminotransferase increase) in the presence of poor glycemic control (elevation of glycated hemoglobin, HbA1c levels). The advances in the comprehension of the metabolic pathways driving to the hepatic glycogen deposition point out the role of glucose transporters and insulin mediated activations of glucokinase and glycogen synthase, with inhibition of glucose-6-phosphatase. The differential diagnosis of HG consists in the exclusion of causes of liver damage (infectious, metabolic, obstructive and autoimmune disease). The imaging study (ultrasonography and/or radiological examinations) gives information about the liver alterations (hepatomegaly), but the diagnosis needs to be confirmed by the liver biopsy. The main treatment of HG is the amelioration of glycemic control that is usually accompanied by the reversal of the liver disorder. In selected cases, more aggressive treatment options (transplantation) have been successfully reported.
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PMID:Diagnosis of hepatic glycogenosis in poorly controlled type 1 diabetes mellitus. 2551 91

Hepatic glycogenosis in type 1 diabetes mellitus (DM) can be caused by poor glycemic control due to insulin deficiency, excessive insulin treatment for diabetic ketoacidosis, or excessive glucose administration to control hypoglycemia. Mauriac syndrome, which is characterized by hepatomegaly due to hepatic glycogenosis, growth retardation, delayed puberty, and Cushingoid features, is a rare diabetic complication. We report a case of hepatic glycogenosis mimicking Mauriac syndrome. A 14-year-old girl with poorly controlled type 1 DM was admitted to The Catholic University of Korea, Seoul St. Mary's Hospital for abdominal pain and distension. Physical examination revealed hepatomegaly and a Cushingoid face. The growth rate of the patient had decreased, and she had not yet experienced menarche. Laboratory findings revealed elevated liver enzyme levels. A liver biopsy confirmed hepatic glycogenosis. Continuous glucose monitoring showed hyperglycemia after meals and frequent hypoglycemia before meals. To control hyperglycemia, we increased insulin dosage by using an insulin pump. In addition, we prescribed uncooked cornstarch to prevent hypoglycemia. After strict blood glucose control, the patient's liver functions and size normalized. The patient subsequently underwent menarche. Hepatic glycogenosis is a complication of type 1 DM that is reversible with appropriate glycemic control.
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PMID:Hepatic glycogenosis in type 1 diabetes mellitus mimicking Mauriac syndrome. 2621 53

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

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