Progeria laboratory findings
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]
Overview
Overview
Some patients with Hutchinson-Gilford progeria syndrome (HGPS) may have elevated platelet counts, serum phosphorus levels and decreased leptin levels and bone density.
Laboratory Findings
Laboratory Findings
Laboratory findings consistent with the diagnosis of Hutchinson-Gilford progeria syndrome (HGPS) include:[1][2]
- Decreased serum leptin levels
- Insulin resistance
- Decreased bone density
- Elevated platelet counts
- Elevated serum phosphorus levels
- Some patients with Hutchinson-Gilford progeria syndrome (HGPS) may have prolonged prothrombin time
References
References
- ↑ Merideth MA, Gordon LB, Clauss S, Sachdev V, Smith AC, Perry MB; et al. (2008). “Phenotype and course of Hutchinson-Gilford progeria syndrome”. N Engl J Med. 358 (6): 592–604. doi:10.1056/NEJMoa0706898. PMC 2940940. PMID 18256394.
- ↑ Gordon LB, Campbell SE, Massaro JM, D’Agostino RB, Kleinman ME, Kieran MW; et al. (2018). “Survey of plasma proteins in children with progeria pre-therapy and on-therapy with lonafarnib”. Pediatr Res. 83 (5): 982–992. doi:10.1038/pr.2018.9. PMID 29342131.
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