At post-mortem we examined heart tissue of (i) 31 patients with uraemia not on dialysis, (ii) 42 patients on haemodialysis for less than 6 months, (iii) 60 patients on haemodialysis for more than 6 months, (iv) 16 patients after renal transplantation, and (v) 11 patients on CAPD. Patients with stenosing coronary lesions were excluded. Diffuse non-coronary intermyocardiocytic fibrosis, assessed by a score system in trichrome-stained sections, was found in 91% of chronically uraemic patients, but not in non-hypertensive, non-diabetic controls. The lesion was present even in non-dialysed uraemic patients; in dialysed patients its severity was related to the duration of dialysis; it was demonstrable even years after renal transplantation. On electron-microscopy, collagen fibres were seen, while beta 2-M amyloid was consistently absent. Logistic regression analysis showed that uraemia was a determinant of intermyocardiocytic fibrosis independent of hypertension, diabetes mellitus, anaemia, heart weight, and presence or absence of dialysis procedure.
ExtractA new variant of glucose phosphate isomerase (GPI) deficiency (type Nordhorn) associated with congenital nonspherocytic hemolytic anemia is described. The propositus, an 18-month-old boy of German origin, h,as suffered since birth from a severe to moderate macrocytic anemia, which is characterized by low mean corpuscular hemoglobin concentration (28y0), high reticulocytosis (45-60yo), normal osmotic fragility, type I autohemolysis, and short erythrocyte life-span (51Cr t = 2 days). With the exception of GPI, the activities of most erythrocyte enzymes are increased. GPI activity is decreased to 22y0 of the normal. The father and mother exhibit GPI activities between 36% and 47% of normal. No difference is demonstrable between the enzyme of the propositus and normal subjects concerning Michaelis-Menten constant for fructose 6-phosphate, p H optimum, and thermal optimum. The stability of the enzyme is decreased in the propositus and in all affected maternal relatives. The enzyme of the paternal relatives is stable. O n starch-gel electrophoresis the enzyme of the father is normal (three bands). In the hemolysate of the mother a fourth cathodally migrating band is demonstrable in addition to the three normal bands. The propositus exhibits only one band with a cathodal mobility of 132y0 of the main band of normal subjects. I t is suggested that the propositus is double heterozygous for two abnormal alleles. The heterozygote mother contributes an allele which produces a thermolabile enzyme of decreased activity and abnormal electrophoretic mobility, whereas the father contributes an allele without enzymatic activity.The enzyme defect is also manifest in the leukocytes of the propositus (%yo of normal activity). The thermolability is evident in the leukolysates of the propositus and in those of his mother.When erythrocyte glucose consumption and lactate formation are compared with nonenzymopenic, reticulocyte-rich blood, which has no metabolic defect, the rate of glycolysis is markedly impaired in the propositus. Glucose 6-phosphate, the substrate
Untersuchungen über den Einfluß des Vitamins D auf den Bindegewebsstoffwechsel und den Mechanismus der extraossären Gewebsverkalkung* * Mit dankenswerter Unterstützung der Landesversicherungsanstalt Westfalen, der Bergbauberufsgenossenschaft Bochum und der Deutschen Forschungsgemeinschaft.
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