• Users Online: 30
  • Print this page
  • Email this page
ORIGINAL ARTICLE
Year : 2020  |  Volume : 3  |  Issue : 1  |  Page : 15-20

Infantile nephropathic cystinosis: Clinical features and outcome


1 Division of Nephrology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
2 Department of Ocular Pharmacology, All India Institute of Medical Sciences, New Delhi, India

Correspondence Address:
Arvind Bagga
Division of Nephrology, Department of Pediatrics, All India Institute of Medical Sciences, Ansari Nagar, New Delhi - 110 029
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/AJPN.AJPN_10_20

Rights and Permissions

Background: Nephropathic infantile cystinosis, the most common cause of renal Fanconi syndrome, presents in early infancy with impaired growth, polyuria and polydipsia, and progresses to end stage renal disease during the first decade. Diagnosis is based on corneal examination for cystine crystals, leukocyte cystine content and genetic testing of the CTNS gene. Information on clinical features and genotype of Indian children with cystinosis is limited. Methods: We describe clinical features, renal outcomes and genetic variants in the CTNS gene in Indian children with cystinosis. Results: We included 19 patients with cystinosis from 17 families predominantly presenting with poor growth (95%), polyuria (84%) and refractory rickets (74%). Cystine crystals were present in 84%. Fanconi syndrome was common; two had nephrocalcinosis and 9 presented with eGFR <60 ml/ min/ 1.73 m2. Genetic analysis, performed in 11 families, (12 patients) showed 8 variants. Five were reported, pathogenic variants, one was likely pathogenic and two were rare or novel variants of unknown significance. Conclusion: The p.Thr7PhefsTer7 variant, common to five unrelated patients, might be a population hotspot. Eight (42%) patients have been initiated on therapy with cysteamine. Studies with prolonged follow-up are necessary to define renal and extrarenal outcomes and the effect of cysteamine in Indian children.


[FULL TEXT] [PDF]*
Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)
 

 Article Access Statistics
    Viewed1158    
    Printed66    
    Emailed0    
    PDF Downloaded111    
    Comments [Add]    

Recommend this journal