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Abstract: TH-PO528

Clinical Features of Cystinosis and Practice Patterns: A Report of the NAPRTCS Cystinosis Registry

Session Information

  • Pediatric Nephrology - I
    November 02, 2023 | Location: Exhibit Hall, Pennsylvania Convention Center
    Abstract Time: 10:00 AM - 12:00 PM

Category: Pediatric Nephrology

  • 1900 Pediatric Nephrology


  • Kumar, Reeti, Duke University Health System, Durham, North Carolina, United States
  • Altemose, Kathleen, Indiana University School of Medicine, Indianapolis, Indiana, United States
  • Willig, Laurel K., Children's Mercy Kansas City, Kansas City, Missouri, United States
  • Warady, Bradley A., Children's Mercy Kansas City, Kansas City, Missouri, United States
  • Smith, Jodi M., University of Washington School of Medicine, Seattle, Washington, United States

Group or Team Name


The NAPRTCS Cystinosis Registry was established to describe the clinical features of cystinosis in children and young adults and the associated practice patterns of providers.


Subjects < 25 yrs of age with cystinosis at any NAPRTCS center are eligible for enrollment. Demographic and clinical data from time of diagnosis, time of registry enrollment, and every 6 months thereafter are collected.


To date, data from 91 subjects from 30 centers diagnosed between 12/1999 and 8/2022 are available. Patient demographics and clinical features are shown in Table 1. Reported medications at diagnosis included cystine lowering medications (81.3%), cysteamine eye drops (35.2%), and phosphorus and potassium supplementation (42.9%, 40.7%) (Table 2). Procysbi use progressively increased following FDA approval in 2013. Median creatinine at registry entry and 36 months post enrollment was 0.64 mg/dL (eGFR 76.4 ml/min/1.73m2) and 0.79 mg/dL (66.1 ml/min/1.73m2), respectively. At registry entry, almost half the patients (48.9%) had a g-tube and photophobia was reported in 25.3%. Over 90% of patients were at grade level with 34.1% receiving special services. The most common subspecialty visits were ophthalmology (28.9%), endocrinology (25.6%), and GI (17.8%).


Children with cystinosis present early in life with the majority diagnosed before 2 years of age. Patients typically experience 5 months of symptoms prior to diagnosis, with failure to thrive present in more than 50%. Children and young adults with cystinosis have complex care needs which are often met through multispecialty care providers.


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