Gastrointestinal Manifestations of Nephropathic Cystinosis in Children

Introduction. Cystinosis is an autosomal recessive disorder which is characterized by both renal and extrarenal symptoms. Gastrointestinal dysfunction has been reported in adolescent with cystinosis, and it is rarely considered in the infants. The present case series reviewed gastrointestinal manifestations of these patients. Materials and Methods. Gastrointestinal signs and symptoms of 23 children aged 5.99 ± 0.50 years (range, 1.0 to 12.5 years) on average with cystinosis, admitted to our department of nephrology between 1996 and 2005, were retrospectively reviewed. The inclusion criteria were the presence of the crystals of cystine in bone marrow aspiration and corneal deposition detected by slit lamp examination. Results. Gastrointestinal signs and symptoms were as follows: vomiting in 16 patients (69.6%), hepatomegaly in 8 (34.8%), diarrhea in 6 (26.1%), splenomegaly in 5 (21.7%), constipation in 4 (17.4%), anorexia in 4 (17.4%), abdominal pain in 3 (13.0%), nausea in 2 (8.7%), and ascites in 2 (8.7%). Height below the 3rd percentile in was seen in 16 patients (69.6%) and weight below the 3rd percentile, in 17 (73.9%). Fifteen patients (65.2%) had both low weight and low height. Esophagogastroduodenoscopy had been performed in 6 cases and chronic inactive gastritis with H pylori infection was detected in 2 patients (8.7%). Conclusions. Our study revealed a wide spectrum of gastrointestinal disturbances in young patients with cystinosis. Such findings should lead to greater awareness of the presence of gastrointestinal dysfunction in these children, encourage prompt gastrointestinal evaluation, and encourage treatment of more severely affected patients.