Progeria laboratory findings: Difference between revisions
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Laboratory findings consistent with the diagnosis of [[Hutchinson-Gilford progeria syndrome]] ([[HGPS]]) include:<ref name="pmid18256394">{{cite journal| author=Merideth MA, Gordon LB, Clauss S, Sachdev V, Smith AC, Perry MB et al.| title=Phenotype and course of Hutchinson-Gilford progeria syndrome. | journal=N Engl J Med | year= 2008 | volume= 358 | issue= 6 | pages= 592-604 | pmid=18256394 | doi=10.1056/NEJMoa0706898 | pmc=2940940 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18256394 }}</ref><ref name="pmid29342131">{{cite journal| author=Gordon LB, Campbell SE, Massaro JM, D'Agostino RB, Kleinman ME, Kieran MW et al.| title=Survey of plasma proteins in children with progeria pre-therapy and on-therapy with lonafarnib. | journal=Pediatr Res | year= 2018 | volume= 83 | issue= 5 | pages= 982-992 | pmid=29342131 | doi=10.1038/pr.2018.9 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29342131 }}</ref> | Laboratory findings consistent with the diagnosis of [[Hutchinson-Gilford progeria syndrome]] ([[HGPS]]) include:<ref name="pmid18256394">{{cite journal| author=Merideth MA, Gordon LB, Clauss S, Sachdev V, Smith AC, Perry MB et al.| title=Phenotype and course of Hutchinson-Gilford progeria syndrome. | journal=N Engl J Med | year= 2008 | volume= 358 | issue= 6 | pages= 592-604 | pmid=18256394 | doi=10.1056/NEJMoa0706898 | pmc=2940940 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18256394 }}</ref><ref name="pmid29342131">{{cite journal| author=Gordon LB, Campbell SE, Massaro JM, D'Agostino RB, Kleinman ME, Kieran MW et al.| title=Survey of plasma proteins in children with progeria pre-therapy and on-therapy with lonafarnib. | journal=Pediatr Res | year= 2018 | volume= 83 | issue= 5 | pages= 982-992 | pmid=29342131 | doi=10.1038/pr.2018.9 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29342131 }}</ref> | ||
*Decreased serum leptin levels | *Decreased serum [[leptin]] levels | ||
*Insulin resistance | *[[Insulin resistance]] | ||
*Decreased bone density | *Decreased [[bone density]] | ||
*Elevated platelet counts | *Elevated [[platelet]] counts | ||
*Elevated serum phosphorus levels | *Elevated serum [[phosphorus]] levels | ||
*Some patients with Hutchinson-Gilford progeria syndrome (HGPS) may have prolonged prothrombin time | *Some patients with [[Hutchinson-Gilford progeria syndrome]] ([[HGPS]]) may have prolonged prothrombin time | ||
==References== | ==References== | ||
Latest revision as of 15:24, 1 August 2019
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]
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 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
- ↑ 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.