Adult cystinosis—A benign disorder

Lietman, Paul S.; Frazier, Paul D.; Wong, Vernon G.; Shotton, Donald; Seegmiller, J. Edwin

doi:10.1016/0002-9343(66)90115-x

Cited by 69 publications

(8 citation statements)

References 11 publications

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“…Patients with the benign or adult, nonnephro-pathic type of cystinosis (MIM# 219750) never suffer renal disease and do not show a retinal pigment abnormality, but do have crystals in their cornea and bone marrow [Lietman et al, 1966;Gahl et al, 1995]. Each type of cystinosis represents a different but allelic disorder, and there likely exists a continuum of disease severity.…”

Section: Introductionmentioning

confidence: 99%

CTNS mutations in patients with cystinosis

1999

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Section: Introductionmentioning

confidence: 99%

CTNS mutations in patients with cystinosis

1999

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“…Cystine crystals are present in the cornea, leuko cytes, and bone marrow. These patients sup posedly lead normal lives [3,4]. Thirdly, an intermediate form is also referred to as lateonset or adolescent.…”

Section: Introductionmentioning

confidence: 99%

Glomerular Lesions in Patients with Late-Onset Cystinosis with Massive Proteinuria

Pabico¹,

Panner²,

McKenna³

et al. 1980

Kidney Blood Press Res

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3 siblings – 2 brothers aged 18 and 13 years, and 1 sister, aged 11 years – with adolescent or late-onset cystinosis presented with massive proteinuria. At the time their glomerular filtration rate was normal or only modestly diminished. Though glomerular injury was evident, renal tubular functional abnormalities were also present. Renal biopsy revealed histopathologic features typical of the nephropathic form of cystinosis with the Fanconi syndrome: polykaryocytosis, varying degrees of glomerular sclerosis, thickening and reduplication of basement membrane, fused foot processes, dilated tubules with altered epithelial cell features, and interstitial fibrosis. Fine granular deposits of C₃ and IgM are irregularly distributed in the glomeruli, findings which have not been described in cystinosis. These deposits are possibly immune complexes being deposited in the glomeruli unrelated to the cystine-storage disease or they may represent a localized activation of the complement system induced by the glomerular injury of cystinosis.

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“…Clinical variants of lesser severity have been recognized [9,19,22,31]. Cystinotic tissues contain large excesses of cystine, which are often visible in appropriately prepared tissues as intracellular crystalline deposits.…”

Section: Introductionmentioning

confidence: 99%

Biochemical, Morphologic, and Gytogenetic Studies of Leukocytes Growing in Continuous Culture from Normal Individuals and from Patients with Cystinosis

et al. 1971

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Continuous leukocyte cultures were established from the blood of three siblings with classical nephropathic cystinosis and from their mother. The cells from patients with cystinosis (CC) contained at least 15-to 20-fold more cystine than cultured leukocytes from normal individuals (NC). The transport of cystine-35 S into CC was similar to uptake into NC when tested at pH 5.0 and pH 7.4.The cultured CC could not be distinguished by ultrastructure from NC Crystalline inclusions which could easily have been mistaken for cystine were observed in the lysosome of a normal cell. The modal number of chromosomes in CC and NC lines was 46. There was a marked degree of aneuploidy. Tetraploidy was present in 3.8-9.6% of metaphases. Structural rearrangements and breaks were seen in all cell lines. Speculation

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Adult cystinosis—A benign disorder

Cited by 69 publications

References 11 publications

CTNS mutations in patients with cystinosis

CTNS mutations in patients with cystinosis

Glomerular Lesions in Patients with Late-Onset Cystinosis with Massive Proteinuria

Biochemical, Morphologic, and Gytogenetic Studies of Leukocytes Growing in Continuous Culture from Normal Individuals and from Patients with Cystinosis

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