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Cystinosis with sclerotic bone lesions.
S Sirrs1, P Munk, P I Mallinson
1Adult Metabolic Diseases Clinic, Vancouver General Hospital, Level 4 - 2775 Laurel Street, Vancouver, BC, Canada, V5Z 1M9, Sandra.Sirrs@vch.ca2.
JIMD Reports
|October 8, 2013
Summary
Nephropathic cystinosis can cause sclerotic bone lesions, even with normal parathyroid function. Bone marrow infiltration with cystine may occur without causing cytopenias in these patients.
Area of Science:
- Nephrology
- Endocrinology
- Oncology
Background:
- Nephropathic cystinosis is a rare genetic disorder causing cystine accumulation in various organs.
- Patients often undergo renal transplantation and are treated with cysteamine.
- Sclerotic bone lesions are not a commonly recognized manifestation of cystinosis.
Purpose of the Study:
- To report a case of nephropathic cystinosis presenting with unusual sclerotic bone lesions.
- To investigate the underlying cause of these bone lesions in a post-transplant patient.
- To highlight cystine deposition as a potential cause of bone abnormalities in cystinosis.
Main Methods:
- Case report of a 26-year-old male with treated nephropathic cystinosis.
- Evaluation of incidental sclerotic bone lesions found on chest CT scan.
- Analysis of patient history, laboratory markers (including calcium, alkaline phosphatase), and parathyroid function.
- Percutaneous bone biopsy for histopathological examination.
Main Results:
- The patient presented with multiple sclerotic bone lesions mimicking osteoblastic metastases.
- Bone biopsy revealed changes consistent with cystine deposition.
- The patient had normal parathyroid function and no history of cytopenias.
- Bone and tumor markers were within normal limits.
Conclusions:
- Sclerotic bone lesions can be a manifestation of nephropathic cystinosis, independent of hyperparathyroidism.
- Significant bone marrow infiltration by cystine can occur in cystinosis without leading to cytopenias.
- This case expands the understanding of skeletal manifestations in nephropathic cystinosis.
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