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Liver disease, occurring during pediatric or adult age, is often of undetermined cause. Some cases are probably related to undiagnosed inherited metabolic disorders. Hepatic disorders associated with fructose‐1,6‐bisphosphatase deficiency, a gluconeogenesis defect, are not reported in the literature. These symptoms are mainly described during acute crises, and many reports do not mention them because hypoglycemia and hyperlactatemia are more frequently in the forefront. Herein, the liver manifestations of 18 patients affected with fructose‐1,6‐bisphosphatase deficiency are described and the corresponding literature is reviewed. Interestingly, all 18 patients had liver abnormalities either during follow‐up (hepatomegaly [n = 8/18], elevation of transaminases [n = 6/15], bright liver [n = 7/11]) or during acute crises (hepatomegaly [n = 10/17], elevation of transaminases [n = 13/16], acute liver failure [n = 6/14], bright liver [n = 4/14]). Initial reports described cases of liver steatosis, when liver biopsy was necessary to confirm the diagnosis by an enzymatic study. There is no clear pathophysiological basis for this fatty liver disease but we postulate that endoplasmic reticulum stress and de novo lipogenesis activation could be key factors, as observed in FBP1 knockout mice. Liver steatosis may expose patients to severe long‐term liver complications. As hypoglycemia becomes less frequent with age, most adult patients are no longer monitored by hepatologist. Signs of fructose‐1,6‐bisphosphatase deficiency may be subtle and can be missed in childhood. We suggest that fructose‐1,6‐bisphosphatase deficiency should be considered as an etiology of hepatic steatosis, and a liver monitoring protocol should be set up for these patients, during lifelong follow‐up. [ABSTRACT FROM AUTHOR]

Poorly controlled diabetes mellitus (DM) patients sometimes show serum transaminase elevations due to steatohepatitis. However, we experienced four cases with type 1 DM with sharp elevations in serum transaminases that could not be explained by steatohepatitis alone and showed bright liver. They were diagnosed with glycogenic hepatopathy (GH) clinicopathologically. The four patients had a median age of 22.5 years (range, 19-29 years) and 12.5 (4-15)-year histories of type 1 DM and showed marked increases in serum transaminases (aspartate aminotransferase, 698 U/L [469-2763 U/L]; alanine transaminase, 255 U/L [216-956 U/L]). Diabetes mellitus control was poor and hemoglobin A1c was 12.7% (11-16.5%). Three cases had a past history of diabetic ketoacidosis. Hepatomegaly and hyperdense liver were seen on computed tomography scans. Magnetic resonance imaging showed low intensity in T2-weighted images. The pathological findings revealed pale and swollen hepatocytes and glycogenated nuclei. The architecture of the liver was preserved, and steatosis and fibrosis were mild. The cytoplasm of hepatocytes stained densely positive with periodic acid-Schiff, and the positive staining disappeared after diastase digestion, suggesting glycogen deposition. No other cause of hepatitis was evident, and the diagnosis was GH. Elevated transaminases improved within 1 month with good glycemic control. Transaminase elevations were observed several times in three cases with poor glycemic control. Glycogenic hepatopathy is rare, but extremely high serum elevations of transaminases are important to identify clinically. Despite showing a good clinical course in general, GH sometimes recurs and requires strict glycemic control. Clinicians should be aware of and recognize GH when dealing with uncontrolled DM patients. [ABSTRACT FROM AUTHOR]

Aims: Relationships of renal function and liver disease are described in acute and chronic liver failure. The aim of the study is to investigate which relationship, if any, is present between severity of non-alcoholic fatty liver disease (NAFLD), assessed by bright liver score (BLS) versus mild-moderate renal insufficiency assessed by glomerular filtration rate (GFR) and by ultrasound intra-renal arterial resistive index (RRI). Moreover, which difference, if any, can be found in NAFLD patients with normal versus increased transaminases. Patients: The study enrolled 323 NAFLD and 176 non-NAFLD consecutive patients, comparable for age, gender distribution, GFR, and RRI referred to a university clinical day hospital after an ultrasound diagnosis of bright liver, for clinical-nutritional counselling. Personalized computerized mediterranean diet, physical activity increase, and smoking withdrawal integrated counselling were provided. Results: In NAFLD patients, homoeostasis model (HOMA) has a significant correlation with BLS. According to the severity of BLS, grade II-III versus grade I patients have significantly higher values of HOMA, body mass index (BMI), triglycerides, and longitudinal right liver length. By odds ratio, more severe BLS, increased HOMA, and transaminases are associated with lower GFR. Increased transaminases are associated with higher grades of BLS, HOMA, and BMI. By multiple linear regression waist-to-hip ratio, RRI, and BLS, as significant independent factors ( p < 0.0001), explain significantly variance to GFR. This is not observed in normal control group, in which only RRI is a factor explaining GFR. Conclusion: Greater RRI, abdominal obesity, and greater BLS account for a lower GFR in NAFLD patients suggesting the hypothesis that inter-related factors can be operating early in the natural history of obesity-related kidney and liver disease. [ABSTRACT FROM AUTHOR]

Background: Nonalcoholic fatty liver disease (NAFLD) because of its association with obesity, diabetes and insulin resistance (IR), is the hepatic expression of metabolic syndrome. Exercise and nutritional intervention can improve and prevent these inter-related conditions; the relationships between the degree of IR and ultrasound (US) morphological post-interventional changes are not defined. Aims: The aim of our study was to assess the relationship, if any, in NAFLD patients, among IR, BMI and degree of bright liver, before and after 6 months of a moderately hypocaloric/balanced dietary/lifestyle treatment. Fifty outpatients with a clinical and US diagnosis of NAFLD were studied. Methods: Liver echogenicity [Bright Liver Score (BLS)] was scored on a four-graded scale. IR was assessed by homoeostasis model-insulin resistance (HOMA-IR). Body composition was assessed by bioimpedance assessment and skinfold measurements. Results: A significant decrease of BLS was observed, with a concurrent decrease of body weight, body mass index (BMI) and HOMA-IR. Bright liver decrease has a trend parallel to IR, much less steep than the trend of bright liver reduction against US liver dimensions, body weight and BMI decrease. HOMA-IR is the only baseline variable that enters significantly in the multiple regression and, alone, explains 21.4% of variance in predicting bright liver degree. After dietary interventions, both HOMA-IR and BMI are significantly involved in the multiple regression and explain, together, 42.3% of variance in predicting bright liver degree; variation in BLS can be predicted by variation of body weight and of US longitudinal measurement of the liver. Conclusions: Liver US BLS appears to be a useful tool, both alone and along with other US measurements and body weight changes, for the assessment of clinical-metabolic amelioration in patients treated with dietetic interventions. The clinical-diagnostic role, if any, of other assessed laboratory analyses, in the subset of NAFLD, does not appear to be definite. [ABSTRACT FROM AUTHOR]