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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

Authors

  • 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

  • NAPRTCS.
Background

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.

Methods

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.

Results

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%).

Conclusion

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.

Funding

  • Commercial Support – Horizon, Leadiant