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 ultrasonography and portal vein doppler ultrasonography were performed in19 patients, 14 of them (74%) had hepatomegaly, 10 patients (53%) had granular pattern or heterogeneity of liver. Only one patient had high transaminase levels and liver biopsy showed cystine crystals in the liver. Eleven patients (58%) had borderline or increased portal vein minimum and maximum flow velocities. One patient had CK level of 9024 U/L and electromyographic study showed active myopathic involvement. Two patients were found to have gastroesaphageal reflux only and 4 patients were found to have esophageal remnants in addition to reflux. Conclusions: In addition to renal functions, extrarenal organs may be affected from cystine accumulation even in childhood, especially in patients who are incompliant to treatment, resulting in complications such as swallowing difficulty, hepatomegaly and portal hypertension.

Gastrointestinal Manifestations of Adult Cystinosis in Iran: A Descriptive Study

“…Among the remaining patients studied, the most common gastrointestinal complication was nausea and abdominal pain, which was more common among patients who were diagnosed later. According to Topaloglu et al, a study performed on patients with cystinosis revealed that the mean age at last visit was 11.3 ± 6.5 years, and that complications, such as hepatomegaly, swallowing difficulty, and portal hypertension, were found ( 15 ). Two previous studies were performed on patients who did not take cystagon regularly, and this may make the result different from our study.…”

“…A study by Rizantoploglober et al on these patients revealed that even in childhood, in addition to renal dysfunctions, extrarenal organs might be involved by cystine accumulation, especially in patients who are incompliant to treatment. This can result in complications such as swallowing difficulties, hepatomegaly, and portal hypertension ( 15 ).…”

Correction to: Cystinosis beyond kidneys: gastrointestinal system and muscle involvement

“…After publication of this article [ 1 ], the authors reported that the author name Ayşe Gültekingil was incorrectly written as Ayşe Gültekingil Keser. The original article [ 1 ] has been updated.…”

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

“…There are many extrarenal complications which accompany INC and strongly impact a patient's quality of life: Ophthalmological manifestations can affect every part of the eye—an early and frequent symptom is photophobia due to corneal crystal deposition ( 17 ). Gastrointestinal symptoms of INC are caused by cysteamine treatment and/or by cystine deposition in the gut wall ( 18 ). The most common endocrinological complications of the disease are hypothyroidism, diabetes mellitus ( 1 ), pubertal delay ( 19 , 20 ), and male infertility ( 21 ).…”

“…The most common endocrinological complications of the disease are hypothyroidism, diabetes mellitus ( 1 ), pubertal delay ( 19 , 20 ), and male infertility ( 21 ). Muscle impairment is not only of concern for bone metabolism and strength, but may lead to swallowing difficulties and respiratory insufficiency ( 16 , 18 ). Short stature, skeletal pain and deformities, as well as a higher risk of fractures are more common in INC and growth also seems to follow a different pattern than in other nosologic entities of chronic kidney disease (CKD) ( 22 , 23 ).…”