Non-invasive intradermal imaging of cystine crystals in cystinosis.

ABSTRACT:

Importance

Development of noninvasive methodology to reproducibly measure tissue cystine crystal load to assess disease status and guide clinical care in cystinosis, an inherited lysosomal storage disorder characterized by widespread cystine crystal accumulation.

Objective

To develop an unbiased and semi-automated imaging methodology to quantify dermal cystine crystal accumulation in patients to correlate with disease status.

Design, setting and participants

101 participants, 70 patients and 31 healthy controls, were enrolled at the University of California, San Diego, Cystinosis Clinics, Rady Children's Hospital, San Diego and at the annual Cystinosis Research Foundation family conference for an ongoing prospective longitudinal cohort study of cystinosis patients wit

SUBMITTER: Bengali M 

PROVIDER: S-EPMC7932553 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature