Cystinosis

Cystinosis, also known as Abderhalden Kaufmann Lignac syndrome, is the most common hereditary cause of renal Fanconi syndrome. Cystinosis is one of the lysosomal storage disorders

It has a reported incidence of 1:192,000 1. Cystinosis is typically diagnosed in infancy. 

Cystinosis typically presents with failure to thrive and a Fanconi syndrome in early infancy. Progressive multi-organ involvement develops over the first few decades of life. 

  • renal manifestations
  • extra-renal manifestations
    • ocular 
      • photophobia, blepharospasm from corneal involvement
    • neuromuscular
      • distal vacuolar myopathy presenting as progressive distal muscle wasting and weakness
    • central nervous system
      • hypotonia, speech delay, motor impairment, cognitive dysfunction have been described 5
    • endocrine
      • primary hypothyroidism 3
      • pancreatic exocrine failure causing clinical diabetes mellitus by the age of 18 years in 50% of patients 4
      • primary hypogonadism in males
    • skin
      • hypopigmentation, coarsened facial features, impaired sweating have been described 6

There are three main clinical phenotypes:

  • infantile form (95%)
    • most severe with early-onset renal failure
  • juvenile onset form (5%)
  • adult form (case reports)
    • corneal involvement with renal sparing

Cystinosis is caused by a mutation of the CTNS gene, which is inherited in an autosomal recessive inheritance pattern. This gene encodes cystinosin, a transporter that carries cystine from lysosomes into the cytoplasm. A defect in the CTNS gene causes an accumulation of cystine in lysosomes, leading to cystine crystallization and resultant lysosomal dysfunction 2. Lysosomal dysfunction in cystinosis manifests across a variety of organ systems, most prominently in the renal system. 

Imaging features are non-specific and may include:

The mainstay of treatment is cystine-depleting therapy with cysteamine 7. With modern medical therapy, life expectancy can extend past 50 years. 

Initially described by Swiss biochemist Emil Abderhalden (1877-1950) 8.

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Article information

rID: 63999
Section: Syndromes
Tag: cases
Synonyms or Alternate Spellings:
  • Hereditary Fanconi syndrome
  • Abderhalden Kaufmann Lignac syndrome

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