Hyperglycemia, glucose intolerance, hyperinsulinemia and resistance to exogenous insulin were found in a 10-year-old Japanese boy diagnosed as having congenital generalized lipodystrophy. Studies on insulin receptors of circulating mononuclear leucocytes indicated that insulin-resistant diabetes combined with congenital generalized lipodystrophy may be due to disturbance of insulin binding to membrane receptors. No insulin-binding antibody or antibody that impairs insulin-receptor binding was found. Plasma glucagon showed an exaggerated response to L-arginine before treatment. After treatment with a controlled diet and an oral sulfonylurea (500 mg/day) for 4 weeks, there was improvement in the plasma glucagon response to L-arginine. Improvement in the hyperglycemia, hyperinsulinemia and acanthosis nigricans was also observed. On the other hand, on completion of a 7-day high-fat diet, a marked increase in serum free fatty acids, triglycerides and beta-lipoproteins was observed. The total plasma post-heparin lipolytic activity during the high fat diet was within the normal range. However, the level of protamine-inactivated activity was 3 times that of the control.
We describe a male patient with four episodes of acute renal failure after strenuous exercise occurring between the age of 14 and 25 years. He was found to have low serum uric acid (0.4 mg dl-1 after recovery) and high fractional excretion of uric acid. A benzbromarone/pyrazinamide test suggested that renal hypouricemia was due to defective proximal tubular reabsorption of uric acid at a presecretory site. A renal biopsy revealed acute tubular necrosis, a renal computer tomography scan showed patchy contrast enhancement and a treadmill exercise test induced an immediate fall in creatinine clearance. These findings suggest that the cause of acute renal failure was renal vasoconstriction rather than obstruction by uric acid crystals.
The present studies were carried out in the hepatic phosphorylase kinase deficient boys who were followed up more than 6 years to examine the changes 'of physical symptoms, laboratory data, phosphorylase kinase activities and glycogen contents in erythrocytes or leucocytes.
MaterialsPatients were two Japanese boys aged 8 and 12 years, who were diagnosed to be hepatic phosphorylase kinase deficiency at 2 and 3 years of age, respectively.
Results1) The marked hepatomegaly in infancy disappeared at 8 or 10 years of age.2) The elevated plasma transaminase activities, free fatty acid level and mild asymptomatic hypoglycemia improved with age.3) The oral galactose torelance test on Case 2 at 6 years of age showed remarkable elevation of the plasma lactate level as well as at one year of age.
4)Low phosphorylase kinase activities of erythrocytes and leucocytes did not change and high glycogen contents persisted through the life. These results suggest that a sufficient quantity of amino acids can smoothly drive gluconeogenesis and improve liver function and liver enlargement when the patients grow up. (Acta Paediatr Jpn. 23(3): 407, 1982) (Abstract of Nippon Shonikagakkai Zasshi (Acta. Paed. Jpn. Japanese ed. 85(12): 1675-1680 1981) ----. ---. -. .
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.