Cystinosis Presenting with Findings of Bartter Syndrome
2011
Cystinosis Presenting with Findings of Bartter Syndrome
Sample size: 1
publication
Evidence: low
Author Information
Author(s): Özkan Behzat, Çayır Atilla, Koşan Celalettin, Alp Handan
Primary Institution: Atatürk University, Department of Pediatric Endocrinology, Erzurum, Turkey
Conclusion
Cystinosis can initially present with laboratory findings that mimic Bartter syndrome.
Supporting Evidence
- The patient initially presented with symptoms suggestive of Bartter syndrome.
- Diagnosis of cystinosis was confirmed by slit-lamp examination showing cystine crystal deposition.
- The patient showed improvement in symptoms and weight gain after starting cysteamine therapy.
Takeaway
A five-year-old boy was thought to have one kidney problem but actually had a different one called cystinosis, which can look like the first problem.
Methodology
The case report details the clinical evaluation, laboratory findings, and treatment regimen of a single patient.
Limitations
The study is based on a single case report, limiting generalizability.
Participant Demographics
The participant is a five-year-old boy with a history of parental consanguinity.
Digital Object Identifier (DOI)
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