Cystinosis beyond kidneys: gastrointestinal system and muscle involvement.

ABSTRACT:

Background

Cystinosis is a multisystemic disease resulting from cystine accumulation primarily in kidney and many other tissues. We intended to study the evolution of less commonly seen extrarenal complications of cystinosis in a group of patients who have periods without cysteamine treatment.

Methods

Gastrointestinal and muscular complications of cystinosis were studied in a group of 21 patients.

Results

Twenty one patients were included in the study. Among them, 14 were homozygous and 3 were compound heterozygous for CTNS mutations. The median age of diagnosis was 15 months (range; 5 months-14 years) and the mean age at last visit was 11.3 ± 6.5 years. Nine patients (42%) had end stage renal disease at a mean age of 10.6 years (6.5-17 years). Abdominal ultrasonograp

SUBMITTER: Topaloglu R 

PROVIDER: S-EPMC7392712 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature