Adult cystinosis—A benign disorder

Cystinosis is described in a fifty year old woman and two of her brothers. Crystals were found in her peripheral leukocytes, cornea and bone marrow, and proved in the latter tissue to be cystine by their x-ray diffraction pattern. Crystals were also present in the corneas of two of her brothers, one...

Full description

Saved in:
Bibliographic Details
Published inThe American journal of medicine Vol. 40; no. 4; pp. 511 - 517
Main Authors Lietman, Paul S., Frazier, Paul D., Wong, Vernon G., Shotton, Donald, Seegmiller, J.Edwin
Format Journal Article
LanguageEnglish
Published United States Elsevier Inc 01.04.1966
Subjects
Adult
Blood
Bone Marrow
Cornea
Cystinosis - genetics
Female
Humans
Male
Microscopy, Phase-Contrast
Middle Aged
Radiography
Uric Acid - metabolism
Online AccessGet full text

Cover

More Information
Summary:Cystinosis is described in a fifty year old woman and two of her brothers. Crystals were found in her peripheral leukocytes, cornea and bone marrow, and proved in the latter tissue to be cystine by their x-ray diffraction pattern. Crystals were also present in the corneas of two of her brothers, one of whom showed crystals in the bone marrow as well. In striking contrast to childhood cystinosis no evidence of renal dysfunction or renal damage was associated with the cystine deposition. In fact, adult cystinosis appears to be a benign disorder. A recessive mode of inheritance for this disorder is further supported by the consanguinity of the parents.
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
content type line 23
ObjectType-Report-1
ObjectType-Article-3
ISSN:0002-9343
1555-7162
DOI:10.1016/0002-9343(66)90115-X