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[A presumed case of "adolescent" cystinosis]
H Nakano1, Y Yamakura, K Aoyagi
1Department of Ophthalmology, University of Tsukuba, Japan.
Nippon Ganka Gakkai Zasshi
|April 1, 1993
Summary
Adolescent cystinosis was diagnosed in a 30-year-old female presenting with kidney disease, not typical growth issues. Corneal and conjunctival crystals confirmed the diagnosis, with elevated cystine levels found in biopsies.
Area of Science:
- Nephrology
- Ophthalmology
- Genetics
Background:
- Adolescent cystinosis is a rare genetic disorder characterized by cystine crystal accumulation.
- Typical presentation involves growth retardation, rickets, and retinopathy, but atypical forms exist.
- This case highlights a variant with late onset primarily affecting renal function.
Observation:
- A 30-year-old female presented with glomerulonephritis in her twenties.
- Ocular examination revealed characteristic needle-shaped/rectangular crystals in the corneal stroma.
- Conjunctival biopsies showed birefringent hexagonal/rectangular crystals.
Findings:
- High-performance liquid chromatography confirmed elevated cystine levels (8.6-11.0 nmol/ml) in conjunctival biopsies.
- The patient lacked typical signs of adolescent cystinosis such as growth failure, rickets, or retinopathy.
- Diagnosis of adolescent cystinosis was established based on clinical presentation and ocular/conjunctival findings.
Implications:
- This case expands the clinical spectrum of adolescent cystinosis, emphasizing atypical presentations.
- Early ocular and renal assessments are crucial for diagnosing variant forms of cystinosis.
- Understanding these variations aids in timely diagnosis and management of cystinosis patients.