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Nephropathic infantile form of cystinosis about one case

Lamia Sfaihi1, Hajer Aloulou, Saloua Ben Amor

  • 1Department of Pediatrics, CHU Hedi Chaker, Sfax, Tunisia. sfaihilamia@yahoo.fr

Fetal and Pediatric Pathology
|April 14, 2012
PubMed

Insights

Cystinosis, a cause of inherited Fanconi syndrome, should be suspected in children with failure to thrive and kidney damage. Early diagnosis via leukocyte cystine levels is crucial for managing this rare genetic disorder.

Area of Science:

  • Pediatric Nephrology
  • Medical Genetics
  • Rare Diseases

Background:

  • Cystinosis is a rare inherited metabolic disorder.
  • It is the primary cause of inherited Fanconi syndrome.
  • Fanconi syndrome presents with renal tubular dysfunction.

Observation:

  • A 9-month-old boy exhibited failure to thrive, chronic dehydration, polyuria, and polydipsia.
  • Clinical signs included dehydration, enlarged wrists, and rachitic rosaries.
  • Laboratory findings revealed metabolic acidosis, hypokalemia, hypochloremia, proteinuria, polyuria, and hypercalciuria.

Findings:

  • The clinical presentation and laboratory results were highly suggestive of inherited Fanconi syndrome.
  • Diagnosis of cystinosis was confirmed by elevated leukocyte cystine levels.
  • This case highlights cystinosis as a key differential diagnosis in pediatric Fanconi syndrome.

Implications:

  • Early identification of cystinosis is vital for timely intervention and management.
  • Prompt diagnosis can prevent severe complications associated with Fanconi syndrome.
  • This case underscores the importance of suspecting cystinosis in infants with unexplained failure to thrive and renal Fanconi syndrome.

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