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Progeria laboratory findings

Introduction

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]

References

References

  1. ↑ 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.
  2. ↑ 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.

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]