Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0023890 (cirrhosis)
 42,195 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We describe a patient with Fanconi-Bickel syndrome diagnosed by clinical manifestations and the identification of a novel mutation in the GLUT 2 gene. She was initially diagnosed with neonatal diabetes mellitus due to hyperglycaemia and glycosuria at 3 days of life. In addition, newborn screening for galactosaemia revealed hypergalactosaemia. Thereafter, she was managed with lactose-free milk and insulin therapy. However, she failed to grow and her liver became progressively enlarged. Her liver function deteriorated with increased prothrombin time. A liver biopsy done at age 9 months showed micronodular cirrhosis with marked fatty changes and she succumbed to hepatic failure with pneumonia at 10 months of age. DNA sequencing analysis of the GLUT 2 gene using her genomic DNA revealed a novel mutation in codon 5, lysine5 stop(K5X).
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PMID:Identification of a novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome presenting with neonatal diabetes mellitus and galactosaemia. 1202 58

Infections caused by Vibrio vulnificus were first reported in 1979 by Blake et al. of the US Centers for Disease Control. At that time described as a 'rare, unnamed halophilic lactose-fermenting Vibrio species', V. vulnificus has emerged as the most virulent foodborne pathogen in the United States with a hospitalization rate of 0.910 and a case-fatality rate of 0.390. It is in addition a significant cause of potentially life-threatening wound infections. Infections following ingestion of raw or undercooked seafood, commonly raw oysters, can lead to a primary septicaemia with a fatality rate of 50-60%. An unusual symptom, occurring in 69% of 274 cases reviewed by Oliver, is the development of secondary lesions, typically on the extremities, which are generally severe (often a necrotizing fasciitis) and require tissue debridement or amputation. These cases occur almost exclusively in males over the age of 50 years. Interestingly, this gender specificity has been found to be due to the female hormone oestrogen, which in some manner provides protection against the lethal V. vulnificus endotoxin. Further, most cases occur in persons with certain underlying diseases which are either immunocompromising or which lead to elevated serum iron levels (e.g. liver cirrhosis, chronic hepatitis, haemochromatosis). V. vulnificus infections resulting in primary septicaemia have been extensively studied, and the subject of several reviews. This review concentrates on the wound infections caused by this marine bacterial pathogen, including the more recently described biotypes 2 and 3, with brief discussions of those caused by other marine vibrios, and the increasingly reported wound/skin infections caused by Mycobacterium marinum, Erysipelothrix rhusiopathiae, and Aeromnonas hydrophila.
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PMID:Wound infections caused by Vibrio vulnificus and other marine bacteria. 1596 44

Glycogen storage diseases (GSD) and inborn errors of galactose and fructose metabolism are the most common representatives of inborn errors of carbohydrate metabolism. In this review the focus is set on the current knowledge about clinical symptoms, diagnosis and treatment. Hepatomegaly and hypoglycaemia are the main findings in liver-affecting GSD like type I, III and IX. Diagnosis is usually made by non invasive investigations, e.g. mutation analysis. In GSD I, a carbohydrate balanced diet with frequent meals and nocturnal continuous tube feeding or addition of uncooked corn starch are the mainstays of treatment to prevent hypoglycaemia. Liver transplantation has been performed in different types of GSD. It should only be considered in high risk patients e.g. with substantial cirrhosis. Many countries have included classical galactosaemia in their newborn screening programs. A lactose-free infant formula can be life-saving in affected neonates whereas a strict fructose-restricted diet is indicated in hereditary fructose intolerance.
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PMID:Inborn errors of carbohydrate metabolism. 2095 63

As decreased bone mineral density (BMD) is a common problem in cystic fibrosis (CF) and milk products may have pivotal dietary role affecting BMD, we aimed to assess the potential influence of adult-type hypolactasia (ATH) and lactose malabsorption (LM) on BMD in adolescent and young adult patients. In 95 CF pancreatic-insufficient patients aged 10-25 years (without liver cirrhosis, steatosis and cholestasis, diabetes mellitus, systemic glucocorticoid therapy), lumbar BMD, the nutritional status, pulmonary function, vitamin D3 concentration, calcium intake and single-nucleotide polymorphism upstream of the lactase gene were assessed. In subjects with the -13910 C/C genotype predisposing to ATH, the presence of LM was determined with the use of a hydrogen-methane breath test (BT). BMD and calcium intake were significantly lower in patients with the C/C genotype (P<0.028 and P<0.043, respectively). The abnormal BMD was stated more frequently in patients with the C/C genotype (P<0.042) and with LM (P<0.007). BMD, daily calcium intake and serum vitamin D concentration were significantly lower in LM subjects than in the other patients (P<0.037, P<0.000004 and P<0.0038, respectively). In logistic regression analysis, the relationship between examined parameters and BMD, was found to be statistically significant (P<0.001). However, only standardized body weight and LM were documented to influence BMD (P<0.025 and P<0.044, respectively). In conclusion, LM seems to be an independent risk factor for decreased BMD in CF patients.
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PMID:Lactose malabsorption is a risk factor for decreased bone mineral density in pancreatic insufficient cystic fibrosis patients. 2245 91

Wilson disease is hereditary disorder of copper metabolism, based on defect of cooper excretion, which leads to accumulation of cooper in the liver and brain. This disease is one of the most difficult to diagnose. Without treatment disease brings to early disability and lethal outcome. In the article, domestic and foreign approaches to dietary management of Wilson disease have been compared. Diet is not recommended as sole therapy. The degree of restriction of the products containing copper now is discussed. According to the Russian clinical guidelines of diagnosis and treatment of Wilson disease exception of products, copper content in which exceeds 0.5 mg/100 g (liver, shellfish, nuts, cocoa products, mushrooms, bean and some grains) is recommended, while in EASL clinical guidelines there are no any information about restriction of the products containing copper. It is necessary to pay attention not only to cooper restriction, but also to qualitative components of diet. Protein is important part of nutrition under liver disease. According to ESPEN guidelines, the recommended protein intake at chronic hepatitis and cirrhosis is 1.2-1.5 g/kg/day. Dairy products and whey protein are good sources of protein, they almost do not contain cooper, therefore they can be used without restrictions at Wilson disease (in case of normal lactose and milk protein tolerance). The reduce of consumption of sugar, refined carbohydrates and trans fats is also recommended. Dietary recommendations must take into consideration the nutrition status of the patient (protein energy malnutrition, normal body weight, obesity) and degree of liver damage (chronic hepatitis, cirrhosis). It is necessary to develop individualization of diet, increasing efficiency of medicinal treatment of Wilson disease.
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PMID:[The new aspects of clinical nutrition at Wilson disease: actuality and perspectives]. 3172 36