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Query: UMLS:C0011849 (diabetes)
 277,896 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Oral glucose tolerance test (OGTT) was performed in 50 Ethiopians with proven porphyria cutanea tarda (PCT) in 30 of whom urine sugar was also checked. The result of the OGTT, interpreted according to WHO criteria, showed that 35 (70%) patients had normal OGTT, 14 (28%) impaired glucose tolerance (IGT) and 1 diabetes mellitus. Seven patients with IGT, the diabetic and one with normal OGTT had glycosuria of variable degree during the OGTT; none had fasting glycosuria. The patient with diabetes and one other with IGT later on developed mild but nonspecific symptoms. In addition, their blood glucose deteriorated further and required the administration of oral agents to control it. The study clearly indicates the association of diabetes with PCT. Since diabetes mellitus may remain asymptomatic in some of the PCT patients, an early diagnosis of the former is likely to be missed unless looked for.
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PMID:Glucose tolerance and glycosuria in Ethiopian porphyria cutanea tarda patients. 345 14

The frequency of diabetes mellitus was studied in all 150 registered patients suffering from porphyria cutanea tarda in Bulgaria. To 63 of the patients an oral glucose tolerance test was performed according to the criteria of the Diabetic Committee of the WHO (1979). Diabetes mellitus was found in 9 patients--6% which is considerably above the mean frequency of diabetes in this country which is about 1%. In 4 patients diabetes mellitus developed before the onset of porphyria, in 2 patients it developed after the onset of porphyria and in 3 patients the two diseases developed simultaneously. The glucose tolerance test showed lowered tolerance in 8 patients (12.7%) and 5 of them reacted with increased insulin response. 35 patients (55.5%) presented increased insulin response. The data of the study suggest that all patients suffering from porphyria cutanea tarda should be examined for disturbed carbohydrate metabolism.
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PMID:[Carbohydrate metabolic disorders in porphyria cutanea tarda]. 367 37

Pruritus was present in one half of our cases and ran parallel to the disease, thereby suggesting a causal relationship between it and PCT. Moreover, no correlations could be established between pruritus and the patients' sex, associated treatments (oestrogens, etc.) or underlying disease (liver damage, diabetes mellitus, cancer, hypersideraemia), nor between pruritus and the form of PCT (sporadic or familial) and the levels of urinary porphyrins. Pruritus localized to sun-exposed skin areas belongs to the category of phototoxic symptoms, although a burning sensation is more often observed in such cases, but this cannot explain the generalized pruritus. Immunoglobulin and complement deposits in the vessel walls have been demonstrated in PCT. In addition, the serum of PCT patients may, when irradiated, activate the classical complement pathway, thus promoting the release of mediators. Pro-inflammatory enzymes probably play a secondary role.
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PMID:[Pruritus and tardive cutaneous porphyria]. 371 63

A study on carbohydrate metabolism (glycaemia and insulinaemia curves during the oral and the intravenous glucose tolerance tests) in 20 porphyria cutanea tarda patients revealed diabetes mellitus in 2 and impaired glucose tolerance in 1 patient, but the carbohydrate tolerance did not differ greatly from that of matched controls. The porphyria cutanea tarda patients, instead, had a significantly exaggerated insulin response, which was more marked in patients with liver disorders. It is proposed that the hyperinsulinism is secondary to the liver damage.
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PMID:Carbohydrate metabolism in porphyria cutanea tarda. 635 70

Hemochromatosis is a syndrome which, when fully expressed, is manifested by melanoderma , diabetes mellitus, and liver cirrhosis, with iron overload involving parenchymal and reticuloendothelial cells in many organ systems. This clinical presentation may arise as a consequence of either hereditary or acquired abnormalities of iron overload, although the mechanisms are quite different. In hereditary hemochromatosis (also known as primary, or idiopathic, hemochromatosis), increased intestinal iron absorption leads to excessive accumulations of iron, throughout the body, particularly in parenchymal cells. In secondary forms of iron overload including transfusional hemosiderosis, alcoholic cirrhosis, thalassemia, sideroblastic anemia, and porphyria cutanea tarda, iron accumulates in the reticuloendothelial system initially, but with increasing amounts of total body iron, excessive iron deposits eventually accumulate in parenchymal cells throughout the body producing a picture indistinguishable from hereditary hemochromatosis. In this article, the course, prognosis, and therapy of iron overload will be reviewed in detail. Clinical and experimental data concerning the pathogenesis of the different forms of iron overload will be examined critically. In particular, information relating to possible abnormalities of reticuloendothelial function, intestinal mucosal iron transport, and alterations in serum and tissue isoferritin patterns in hereditary hemochromatosis will be analyzed, and possible directions for future research will be suggested. The mode of inheritance and linkage with the major histocompatibility (HLA) complex will be discussed. Theories on the pathogenesis of tissue damage by excess iron will be evaluated. Methods for measuring the extent of iron overload in clinical practice will be described, including measurements of serum iron, serum ferritin, iron absorption, cobalt excretion, desferrioxamine excretion, liver biopsy and tissue iron determinations, and HLA typing. Finally, unresolved problems in the understanding of the disease process, diagnosis, and therapy will be delineated.
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PMID:Iron overload disorders: natural history, pathogenesis, diagnosis, and therapy. 637 41

Mellituria was studied in 83 subjects: 25 normal adults and children and 58 patients with several metabolic diseases. In comparison to the controls, no significant differences were found in 9 patients with cystinuria and in 2 patients with Apert's syndrome. The large excretion of glucose was the only important pattern of the 11 patients with insulin-dependent diabetes. In 23 patients with porphyria cutanea tarda a statistically significant increase in the excretion of pentose was observed. In 16 children with the classical form of phenylketonuria, a significant hypoexcretion of glucose was found. This latter observation could be explained by the carbohydrate metabolic alterations described in experimental hyperphenylalaninemia.
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PMID:Mellituria screening in some metabolic diseases. 685 89

During the period 1975-79, there have been an increasing number of cases of porphyria cutanea tarda in females. Herein are presented the most important findings from among 16 of these patients. Aside from alcohol damage to the liver and other coexistent diseases (colon cancer, syphilis, diabetes), hormonal contraception was named as a decisive factor, especially in young women. 8 females under age 40 who took hormonal contraceptives for many years are discussed. We observed 1 patient suffering from thalassemia minor at the same time and a young woman who underwent a normal pregnancy and birth of a healthy boy after successful treatment for contraceptive drug-induced porphyria cutanea tarda. Such cases have never been seen before. (author's modified)
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PMID:[Porphyria cutanea tarda in female patients with special regard to hormonal contraception (author's transl)]. 734 84

Hepatitis C virus antibodies were studied in sera coming from 39 patients with porphyria (cutanea tarda in 17, variegate in 8, intermittent acute in 4, coproporphyria in 2 and protoporphyria in 8). Nine of 17 patients with porphyria cutanea tarda had positive antibodies, but none of the patients with other types of porphyria. All subjects with porphyria cutanea tarda had histological or laboratory liver abnormalities. There was no relationship between the presence of antibodies and frequency of alcoholism, diabetes, or carbohydrate intolerance. Family background of porphyria was significantly less frequent among patients with positive hepatitis C virus antibodies. In 13 patients, a liver biopsy was performed, always showing signs of chronic hepatitis, whose magnitude was higher in those with positive antibodies. It is concluded that, as reported previously, hepatitis C virus may be an activating factor for porphyria cutanea tarda or may potentiate its accompanying liver disease.
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PMID:[Hepatitis C virus infection in patients with porphyria]. 752 36

In the last decades several authors have observed a frequent association between diabetes mellitus and porphyria, mainly porphyria cutanea tarda. In previous studies, it has been demonstrated that both d delta d-aminolevulic acid dehydratase (ALA-D) and porphobilinogen deaminase (PBG-D), enzymes of the heme pathway, are inhibited by high concentrations of glucose in vitro in crude preparations of erythrocytes. The activity of these same enzymes was diminished in different tissues obtained from streptozotocin induced diabetic mice. Therefore, we decided to investigate the incidence of heme metabolism alterations in diabetes mellitus in a population of 100 non selected adult patients. The activities of erythrocytic ALA-D and PBG-D were measured. Rhodanese, an enzyme of the sulfocompounds pathway closely related to the regulation of heme biosynthesis, was also studied. Urine porphyrin content as well as the chromatographic pattern of esterified porphyrins were determined. ALA-D and PBG-D activities were diminished in diabetic patients (40% and 20% respectively), while rhodanese was only slightly increased (Fig. 1). ALA-D activity was subnormal in a 92% of the complete diabetic population, while PBG-D activity was less than normal in a 79% of the same population. No significative differences between enzymic activities were observed in the groups insulin and non-insulin dependent (Fig. 3). Urine porphyrin content was increased in 5% of the diabetic population. Chromatographic pattern of urinary porphyrins was notably altered in diabetic patients irrespectively of their porphyrin content (Fig. 4), suggesting an alteration in the enzyme uroporphyrinogen decarboxylase resembling the primary enzymic defect observed in porphyria cutanea tarda.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Changes in the heme metabolic pathway in diabetic patients]. 756 48

HHC is the most common inherited metabolic disease among the white population worldwide, with a gene frequency of about 10% and a frequency of homozygosity of about 1 of 250. Many patients harbor a common haplotype of informative markers on chromosome 6p2l.23, suggesting a strong founder effect exerted by a common Celtic ancestor. With the advent of screening tests (serum Tf saturation, fe), many subjects with HHC are being identified before development of cirrhosis or diabetes mellitus, and early detection is important because prompt and vigorous iron reduction prevents development of such complications and assures normal life expectancy. The HIC can be estimated as accurately by specialized magnetic resonance imaging or susceptometric measurements as by chemical measurements on liver biopsy specimens. However, biopsy specimens retain value for showing fibrosis/cirrhosis and dysplastic hepatocytes, both of which increase risks of HCC development. There is growing evidence that iron in the liver plays an important role in non-HHC diseases, such as alcoholic liver disease, chronic viral hepatitis, and porphyria cutanea tarda. The complicated, manifold roles of iron in pathogenesis of the latter disorder include enhancement of production and irreversible oxidation of uroporphyrinogen, as well as formation of an inhibitor targeted specifically at hepatic uroporphyrinogen decarboxylase. The nature of the gene and gene product that are abnormal in HHC remain elusive, despite the intense efforts of several investigative groups. The search has been hampered by a dearth of informative markers in HHC patients in the relevant region of chromosome 6p. Note added in proof: The cloning of a candidate gene, the mutation of which may perhaps cause HLA-linked hemochromatosis, has just been reported (Feder et al: A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nature (Genetics) 1996;399-408). These workers identified a 250-kb region move than three megabases telomeric of the MHC that was identical in 85% of chromosomes of HHC patients. Within this region, they identified a gene related to the MHC class I family, termed HLA-H, containing two missense alterations one of which is predicted to inactivate this class of proteins. 83% of 178 patients were homozygous for this mutation (Cys 282Tyr). This variant was also found on 3.2% of control chromosomes, as would be expected for such a common disorder. Functional studies are awaited with great interest.
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PMID:An update on iron metabolism: summary of the Fifth International Conference on Disorders of Iron Metabolism. 878 49


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