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Nephropathic cystinosis, a rare genetic disorder, affects kidneys in infants. This case highlights intermediate-form kidney damage, impacting both tubules and glomeruli, seen in older children.
Area of Science:
- Pediatric Nephrology
- Genetic Metabolic Disorders
- Pathology
Background:
- Nephropathic cystinosis (Abderhalden-Lignac-Kaufmann disease) is a rare inherited lysosomal storage disorder.
- It leads to widespread cystine crystal accumulation, causing significant organ damage, particularly in the kidneys.
Abstract:
A case of nephropathic cystinosis (Abderhalden-Lignac-Kaufmann disease) in a 8-month girl is reported. Features of pathomorphologic changes in the viscera are described, in kidneys, in particular. The changes described occur not only in the renal tubular system, but also in the glomeruli with the development of sclerosis in them, are more common in older children and may be considered as an intermediate form of cystinosis.