Abstract
Alpha-mannosidosis is an autosomal recessive disorder caused by deficiency of lysosomal α-mannosidase (LAMAN). Here, we report two sisters with α-mannosidosis who developed systemic lupus erythematosus (SLE). The sisters were both homozygous for a one bp deletion within the LAMAN gene resulting in a truncated gene product. The coincidence of α-mannosidosis and SLE are discussed with regard to both clinical and molecular findings. Conclusion:α-mannnosidosis may contribute to the onset of systemic lupus erythematosus in predisposed patients.
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Abbreviations
- ACR :
-
American College of Rheumatology
- LAMAN :
-
lysosomal α-mannosidase
- SLE :
-
systemic lupus erythematosus
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Acknowledgements
M. Kimura and Y. Kinoshita provided clinical details and are responsible for the medical care of many of the patients described.
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Urushihara, M., Kagami, S., Yasutomo, K. et al. Sisters with α-mannosidosis and systemic lupus erythematosus. Eur J Pediatr 163, 192–195 (2004). https://doi.org/10.1007/s00431-004-1404-2
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DOI: https://doi.org/10.1007/s00431-004-1404-2