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Kidney Week

Abstract: FR-PO692

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

Session Information

  • Pediatric Nephrology - 1
    October 25, 2024 | Location: Exhibit Hall, Convention Center
    Abstract Time: 10:00 AM - 12:00 PM

Category: Pediatric Nephrology

  • 1900 Pediatric Nephrology

Authors

  • Smith, Jodi M., Seattle Children's Hospital, Seattle, Washington, United States
  • Boynton, Sara Ashley, Johns Hopkins University, Baltimore, Maryland, United States
  • Grimm, Paul C., Stanford University, Stanford, California, United States
  • Greenbaum, Larry A., Emory University, Atlanta, Georgia, United States
  • Neu, Alicia, Johns Hopkins University, Baltimore, Maryland, United States
  • Warady, Bradley A., Children's Mercy Kansas City, Kansas City, Missouri, United States
Background

The NAPRTCS Cystinosis Registry is a prospective cohort study of children & young adults with cystinosis whose objective is to describe clinical features of cystinosis and practice patterns of providers.

Methods

Children & young adults (< 25 yrs) with cystinosis at any NAPRTCS center are eligible. At enrollment, demographic & clinical data from time of initial presentation with cystinosis, time of enrollment, and every 6 months.

Results

Data were collected from 30 centers on 104 subjects diagnosed from 12/1999 to 8/2023 (Table 1).The most commonly reported medications at diagnosis included cystine lowering medications (81.8%), cysteamine eye drops (34.3%), and phosphorus and potassium supplementation (43.4%, 42.4%). During longitudinal follow-up more than 90% of patients remained on cysteamine oral therapy. The type varied over time with an increase in Procysbi use following FDA approval in 2013. Median creatinine at registry enrollment was 0.73 mg/dL (eGFR 69.0 ml/min/1.73m2) and 0.94 mg/dL (58.3 ml/min/1.73m2) at 36 months post enrollment. Almost half of patients (48.9%) had a g-tube at registry entry. Over 90% of patients were at grade level with 34.8% receiving special services. The majority of patients reported 1 to 2 nephrology visits in the past 6 months. The most common subspecialty visits were ophthalmology (28.4%), endocrinology (24.2%) and GI (17.9%).

Conclusion

Children with cystinosis present early in life with majority of patients diagnosed under 2 years of age. Patients typically present with 6 months of symptoms before a diagnosis is made with failure to thrive present in more than 50%. Children and young adults with cystinosis have complex care needs which are often met through non-local, multispecialty care providers.