AI Article Synopsis

  • * The condition is more common in Caucasians than Asians, with few reported cases in India, and its symptoms often lead to delayed or missed diagnoses, particularly in the juvenile form, which presents differently than the infantile type.
  • * A case study is presented of a 17-year-old Indian male who experienced symptoms like uveitis and photophobia, ultimately diagnosed with juvenile nephropathic cystinosis through electron microscopy of a renal biopsy, emphasizing the need for this advanced diagnostic technique to confirm the

Article Abstract

Nephropathic cystinosis is a rare autosomal recessive lysosomal disease characterized by accumulation of pathognomonic cystine crystals in renal and other tissues of the body. Cystinosis is caused by mutant cystinosin, the cystine transport protein located in lysosomal membranes, leading to systemic deposits of cystine and resultant end organ damage. Cystinosis is rarer in Asians than Caucasians with only a handful of cases reported from India to date. Due to its extreme rarity and clinically insidious presentation in contrast to the infantile form, the diagnosis of juvenile nephropathic cystinosis is frequently delayed or overlooked. Moreover, routine processing and sectioning of paraffin embedded tissues dissolves cystine crystals, making it difficult to diagnose this condition on light microscopic examination alone, mandating electron microscopic (EM) analysis of renal biopsies for an accurate diagnosis of this condition. We describe a case of juvenile nephropathic cystinosis presenting with uveitis and photophobia in a 17-year-old Indian male, diagnosed after EM examination of the patient's renal biopsy for evaluation of nephrotic syndrome. While highlighting the diagnostic utility of EM, we describe a few histopathologic clues which can prompt inclusion of EM analysis of renal biopsies in this setting.

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Source
http://dx.doi.org/10.4103/IJPM.IJPM_623_18DOI Listing

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