title: [Nephropathic and benign cystinosis (author's transl)].
abstract: Cystinosis is a rare, autosomally and recessively inherited disorder of amino-acid metabolism with ocular involvement. Four patients with this disease are reported on. The clinical signs of the first patient, who had nephropathic cystinosis, are compared with the signs and symptoms of the benign phenotype (benign cystinosis). In both nephropathic and benign cystinosis, multiple crystals were found in the cornea and conjunctiva. In the second case a large number of crystals were demonstrated in bone-marrow smears and conjunctival sections; a chromatogram of the conjunctiva indicated the presence of cystine. Although the results of an analysis of cultured fibroblasts from this case were contradictory, an elevated cystine level appeared likely. Crystals were also found in conjunctival sections from the third case. In the fourth case it proved impossible to demonstrate crystals clearly in either the bone marrow or in conjunctival sections. There was no evidence of any other cause of the corneal or conjunctival crystals.
mesh_terms: D000293:Adolescent; D000328:Adult; D001853:Bone Marrow / Q000473:pathology; D002478:Cells, Cultured; D002648:Child; D003228:Conjunctiva / Q000473:pathology; D003238:Connective Tissue / Q000473:pathology; D003315:Cornea / Q000473:pathology; D003553:Cystine / Q000032:analysis; D003554:Cystinosis / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D005260:Female; D005347:Fibroblasts / Q000032:analysis; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D013997:Time Factors
chemical_list: D003553:Cystine
vernacular_title: Beitrag zur nephropathischen und benignen Zystinose.