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Implementing Patch Clamp and Live Fluorescence Microscopy to Monitor Functional Properties of Freshly Isolated PKD Epithelium
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Nephropathic Cystinosis: First reported case in Oman.

Dana Al-Nabhani1, Mohammed El-Naggari, Rana Al-Sinawi

  • 1Departments of Child Health and.

Sultan Qaboos University Medical Journal
|November 17, 2011
PubMed
Summary

Cystinosis, a rare genetic disorder, causes cystine buildup in organs. This report details the first case of severe infantile nephropathic cystinosis in an Omani child, highlighting its rarity in the Middle East.

Keywords:
Case reportCrystalsCysteamineCystinosisFanconi syndromeLysosomal storage diseaseOman

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Area of Science:

  • Genetics and rare diseases
  • Pediatric nephrology
  • Lysosomal storage disorders

Background:

  • Cystinosis is an autosomal recessive lysosomal storage disease.
  • It leads to cystine accumulation in various organs, causing multisystemic manifestations.
  • Infantile nephropathic cystinosis is the most severe form.

Purpose of the Study:

  • To report the first case of nephropathic cystinosis in Oman.
  • To describe the classic clinical features of this rare condition in a pediatric patient.
  • To emphasize the low prevalence of cystinosis in the Middle Eastern population.

Main Methods:

  • Case report of a pediatric patient.
  • Clinical examination and assessment of characteristic manifestations.
  • Review of existing literature on cystinosis prevalence.

Main Results:

  • The case presented with classic clinical features of nephropathic cystinosis.
  • This represents the first documented instance of nephropathic cystinosis in the Omani population.
  • The findings underscore the rarity of the disease in the Middle East.

Conclusions:

  • Nephropathic cystinosis, though rare, can occur in the Omani population.
  • Early recognition of clinical features is crucial for diagnosis.
  • This case contributes to understanding the geographic distribution of rare genetic disorders.