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Feeding problems in cystinosis
E Elenberg1, L L Norling, R E Kleinman
1Department of Pediatrics, Massachusetts General Hospital, Harvard Medical School, Boston 02114, USA.
Gastrointestinal problems are prevalent and diverse in nephropathic cystinosis patients, often appearing early. Prompt recognition and treatment of these GI issues can significantly improve patient outcomes.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Nephropathic cystinosis is a rare genetic disorder causing cystine accumulation.
- It's a leading cause of Fanconi syndrome in children.
- Gastrointestinal (GI) manifestations are not well-documented.
Purpose of the Study:
- To investigate the prevalence and spectrum of GI problems in cystinosis patients.
- To understand the age of onset and severity of these GI issues.
Main Methods:
- A questionnaire was sent to 200 registered members of the Cystinosis Foundation.
- 70 patients (35% response rate) provided data on their GI symptoms and treatments.
Main Results:
- 100% of patients experienced GI symptoms during their lifetime, with 93% at initial presentation.
- Symptoms are more common, diverse, and occur at a younger age than previously thought.
- Documented GI abnormalities include reflux, dysmotility, pseudo-obstruction, and swallowing dysfunction.
Conclusions:
- GI problems are a universal and early feature of nephropathic cystinosis.
- Early identification and aggressive management of GI issues are crucial for patient well-being.
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