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Natural history of adolescent-onset cystinosis

Julian P Midgley1, Reyhan El-Kares, François Mathieu

  • 1Department of Pediatrics, Alberta Children's Hospital, 2888 Shaganappi Trail, NW, Calgary, AB, T3B 6A8, Canada.

Pediatric Nephrology (Berlin, Germany)
|May 10, 2011
PubMed

Insights

Cystinosis is a rare genetic disorder causing cystine buildup. This case study highlights a patient with intermediate nephropathic cystinosis who lived a full life into his 50s.

Area of Science:

  • Genetics
  • Lysosomal Storage Disorders
  • Rare Diseases

Background:

  • Cystinosis is an autosomal recessive lysosomal storage disorder caused by CTNS gene mutations, leading to cystine accumulation.
  • It presents in infantile, intermediate, and ocular forms, with varying severity and age of onset.
  • Defective lysosomal cystine efflux is the underlying mechanism.

Observation:

  • This report details the natural history of intermediate nephropathic cystinosis in a 55-year-old male diagnosed at age 9.
  • The patient underwent a kidney transplant at 16 due to unrecognised early tubulopathy.
  • Genetic analysis identified homozygosity for a 21-bp deletion in CTNS exon 5 (c.198_218del21).

Findings:

  • The patient exhibited relatively mild extra-renal manifestations despite delayed cysteamine treatment.
  • A specific 7-amino acid deletion in the N-terminal domain of the cystinosin protein was identified.
  • The patient maintained a successful academic and professional career into his sixth decade.

Implications:

  • This case demonstrates a potentially milder clinical course for certain CTNS mutations.
  • It highlights the long-term quality of life achievable for individuals with cystinosis.
  • Further research into genotype-phenotype correlations in cystinosis is warranted.

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