Pediatrics in Review
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(Pediatrics in Review. 1997;18:302-304. doi:10.1542/10.1542/pir.18-9-302)
© 1997 American Academy of Pediatrics
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(Pediatrics in Review. 1997;18:302-304.)
© 1997 American Academy of Pediatrics

Consultation with the Specialist: Nephropathic Cystinosis

William A. Gahl, MD, PhD*
* Head, Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD.

   Case Presentation
 
A 10-month-old boy is hospitalized with presumed viral gastroenteritis and 10% dehydration. According to his medical records, he has not grown since 6 months of age despite various changes in formulas and diet. The parents report that he has been excessively thirsty and irritable over the past 2 months, and his diapers needed changing 10 times per day. On physical examination, height and weight are at the fifth percentile, dehydration is noted, and tenderness is present over the wrists and ankles. Urinalysis shows a specific gravity of 1.001, a trace of protein, 2+ glucose, and 1 to 5 red blood cells/high power field. Serum potassium is 2.9 mEq/L and carbon dioxide content is 12 mEq/L. The urine output over the first 24 hours of hospitalization is 2,300 mL.


   Introduction
 
Nephropathic cystinosis is a rare, autosomal recessive storage disease caused by a deficiency of the lysosomal membrane carrier necessary for removal of cystine, a disulfide amino acid, from lysosomes. In the absence of its transporter, cystine accumulates within lysosomes, crystallizing in many tissues (including kidney, liver, intestine, spleen, and cornea) because of its low solubility. Subsequent cell death is considered the primary cause of the specific tissue and organ involvement. The most common type of cystinosis, called nephropathic or infantile, is manifested primarily as kidney disease. The incidence is estimated to be 1 in 100,000 to 200,000 live births, but only approximately 350 individuals currently are alive who have cystinosis in the United States. Adolescent or juvenile cystinosis resembles nephropathic cystinosis, but there is later onset of renal disease. Benign or adult cystinosis is not associated with renal disease; only corneal crystal formation occurs. Individuals heterozygous for cystinosis are always entirely normal. The gene for nephropathic cystinosis recently has been mapped to the short arm of chromosome 17.


   Clinical Findings
 
Signs and symptoms of . . . [Full Text of this Article]


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