Cystinosis beyond kidneys: gastrointestinal system and muscle involvement

• DOI: 10.1186/s12876-020-01385-x
• Publication Date: 2020-07-29T13:05:10Z
• Authors: Rezan Topaloglu; Ayşe Gültekingil; Bora Gülhan; Fatih Ozaltin; Hülya Demir; Türkmen Çiftci; Numan Demir; Çağrı Mesut Temucin; Aysel Yuce; Okhan Akhan
• Keywords: Cystinosis; Cysteamine; Liver disease; Abdominal ultrasonography

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 cystinosis group patients who have periods without cysteamine treatment.Gastrointestinal muscular were studied 21 patients.Twenty one included study. Among them, 14 homozygous 3 compound heterozygous for CTNS mutations. The median age diagnosis was 15 months (range; 5 months-14 years) mean at last visit 11.3 ± 6.5 years. Nine (42%) had end stage renal 10.6 years (6.5-17 years). Abdominal ultrasonography portal vein doppler performed in19 patients, them (74%) hepatomegaly, 10 (53%) granular pattern or heterogeneity liver. Only patient high transaminase levels liver biopsy showed crystals Eleven (58%) borderline increased minimum maximum flow velocities. One CK level 9024 U/L electromyographic active myopathic involvement. Two found gastroesaphageal reflux only 4 esophageal remnants addition reflux.In functions, organs may be affected even childhood, especially are incompliant treatment, such as swallowing difficulty, hepatomegaly hypertension.