Benign cystinosis
| Autor: | Vernon G. Wong, Joseph D. Schulman, J. Edwin Seegmiller, Toichiro Kuwabara, Richard F. Brubaker |
|---|---|
| Rok vydání: | 1970 |
| Předmět: |
medicine.medical_specialty
Pathology business.industry Cystine Retinal General Medicine Disease medicine.disease Asymptomatic chemistry.chemical_compound medicine.anatomical_structure Endocrinology chemistry Nephropathic Cystinosis Internal medicine Cystinosis medicine Bone marrow Benign cystinosis medicine.symptom business |
| Zdroj: | The American Journal of Medicine. 49:546-550 |
| ISSN: | 0002-9343 |
| DOI: | 10.1016/s0002-9343(70)80049-3 |
| Popis: | Benign cystinosis is an autosomal recessive disorder characterized by the presence of cystine crystals in the eye and the bone marrow. There are no associated renal or peripheral retinal abnormalities which are typical of nephropathic cystinosis. Patients affected with the benign disorder are asymptomatic and presumably have a normal life expectancy. The youngest known patients, a girl aged eleven and a boy aged sixteen, are described. Biochemical and morphologic evidence suggests that in both forms of cystinosis storage of cystine occurs within the lysosomes, primarily of actively endocytic, mesodermally-derived cells. Although the two forms of cystinosis show points of similarity in the distribution of cystine crystals, they differ quantitatively in the amount of cystine accumulated, substantially less intracellular cystine being present in the benign than in the nephropathic form of the disorder. The abnormal gene products responsible for the accumulation of cystine in the two forms of the disease remain to be demonstrated. |
| Databáze: | OpenAIRE |
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