Patients With Infantile Nephropathic Cystinosis in Germany and Austria: A Retrospective Cohort Study.

ABSTRACT:

Background

Infantile nephropathic cystinosis (INC) is a rare lysosomal storage disorder resulting in progressive chronic kidney disease (CKD) and a variety of extrarenal manifestations. This orphan disease remains a challenge for patients, their families and health care providers. There is currently no comprehensive study on patients' clinical course in Germany and Austria.

Methods

A retrospective cohort study including 74 patients at eleven centers of care was conducted. Data on time of diagnosis, CKD stage, leukocyte cystine levels (LCL), extrarenal manifestations, and treatment was collected from medical charts and subsequently analyzed using explorative statistics. Age at initiation of kidney replacement therapy (KRT) was evaluated by Kaplan-Meier analyses for different

SUBMITTER: O'Connell N 

PROVIDER: S-EPMC9082678 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature