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Results for “CYSTINOSIS”

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PubMed1984

[Clinical course study in thrombophilia].

The course of the disease in a 46 yr old female patient was characterised by an unusual frequency of thromboembolic complications. Thrombogenic factors were diathesis to cystine stones since adolescence, intake of oral contraceptives for 5 years, immune complex disease, liver cell adenoma, open foramen ovale. Differential therapeutic measures for treatment of thromboembolism were applied. Changes in clotting variables and pathogenetic aspects are discussed.

Antithrombin III Deficiency↗
PubMedDate not supplied

Acquired lesions in transplanted kidneys.

A retrospective study of acquired renal lesions in 42 renal transplants in children revealed a variety of histologic lesions. Although acute and chronic rejection changes were the most frequent, a number of metabolic, infectious, vascular, and other lesions were encountered. Renal biopsy allows rapid diagnosis of these lesions, permitting rational planning for therapy.

Adolescent↗
PubMed1981

[Phaenotypic aspects of hereditary aminoacidopathies (author's transl)].

Despite considerable diagnostic progress from mass screening tests in all newborns or from sophisticated analytical efforts some patients with inborn errors of amino acid metabolism are detected only after some more or less specific clinical signs have appeared. Those may include a peculiar odor of the sweat or urine, disturbances or normal growth, and skeletal, eye, hair and skin alterations. While some of these features appear early in the course of disease and may be of diagnostic and therapeutic significance (e.g. defects in the oxidation of the branched-chain amino acids) others are noticed only in a later stage with further progress of the disease (e.g. cystathionine synthetase deficient homocystinuria tryosinemia type II, or ornithine aminotransferase deficient hyperornithinemia), when the disease may have more advanced. Therefore the physician who is engaged in the care of the newborn or takes part in any investigation program for the developing child should be aware of these signs in order to initiate further diagnostic, therapeutic, or preventive measure for the patient and his family.

Amino Acid Metabolism, Inborn Errors↗
PubMed1982

Patterns of amino acid efflux from isolated normal and cystinotic human leucocyte lysosomes.

This study describes the first direct measurements of amino acid efflux from human lysosomes. Isolated leucocyte lysosomes can be loaded with radioactive amino acids by exposure to low concentrations of the corresponding labeled amino acid methyl esters. Efflux of amino acid from the loaded lysosomes can then be determined. Conditions during loading are adjusted for each ester to permit its adequate intralysosomal hydrolysis and subsequent accumulation of the free amino acid. Relative rates of efflux were leucine approximately equal to phenylalanine greater than methionine greater than tryptophan much greater than cystine. Efflux of leucine, tryptophan, or cystine was independent of exogenous cation, ATP, or amino acid concentrations under the conditions tested. Leucine efflux was similar in normal and cystinotic lysosomes, providing strong evidence that isolated cystinotic lysosomes do not manifest a generalized defect in amino acid efflux. In both normal and cystinotic lysosomes, cystine efflux was much slower than efflux of leucine or other amino acids from human or rat liver lysosomes. Significant differences in mean cystine efflux between isolated normal and cystinotic lysosomes were not apparent in the present test system, although the possibility of differences in rats could not be excluded.

Alanine↗
PubMed1980

Abnormalities of the liver and other organs.

The liver may undergo pathologic changes as a result of an overall disease process that also affects other organs. This article focuses on those diseases in which abnormalities of the liver are only one part of the process, and in which radiographic investigation of the liver is diagnostically important.

Abnormalities, Multiple↗