Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064165%3A_____%2F16%3A10327706" target="_blank" >RIV/00064165:_____/16:10327706 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00216208:11110/16:10327706

Výsledek na webu

<a href="http://dx.doi.org/10.1016/j.jpeds.2016.04.021" target="_blank" >http://dx.doi.org/10.1016/j.jpeds.2016.04.021</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1016/j.jpeds.2016.04.021" target="_blank" >10.1016/j.jpeds.2016.04.021</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency

Popis výsledku v původním jazyce

Objective To define phenotypic groups and identify predictors of disease severity in patients with phosphoglucomutase-1 deficiency (PGM1-CDG). Study design We evaluated 27 patients with PGM1-CDG who were divided into 3 phenotypic groups, and group assignment was validated by a scoring system, the Tulane PGM1-CDG Rating Scale (TPCRS). This scale evaluates measurable clinical features of PGM1-CDG. We examined the relationship between genotype, enzyme activity, and TPCRS score by using regression analysis. Associations between the most common clinical features and disease severity were evaluated by principal component analysis. Results We found a statistically significant stratification of the TPCRS scores among the phenotypic groups (P < .001). Regression analysis showed that there is no significant correlation between genotype, enzyme activity, and TPCRS score. Principal component analysis identified 5 variables that contributed to 54% variance in the cohort and are predictive of disease severity: congenital malformation, cardiac involvement, endocrine deficiency, myopathy, and growth. Conclusions We established a scoring algorithm to reliably evaluate disease severity in patients with PGM1-CDG on the basis of their clinical history and presentation. We also identified 5 clinical features that are predictors of disease severity; 2 of these features can be evaluated by physical examination, without the need for specific diagnostic testing and thus allow for rapid assessment and initiation of therapy.

Název v anglickém jazyce

Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency

Popis výsledku anglicky

Objective To define phenotypic groups and identify predictors of disease severity in patients with phosphoglucomutase-1 deficiency (PGM1-CDG). Study design We evaluated 27 patients with PGM1-CDG who were divided into 3 phenotypic groups, and group assignment was validated by a scoring system, the Tulane PGM1-CDG Rating Scale (TPCRS). This scale evaluates measurable clinical features of PGM1-CDG. We examined the relationship between genotype, enzyme activity, and TPCRS score by using regression analysis. Associations between the most common clinical features and disease severity were evaluated by principal component analysis. Results We found a statistically significant stratification of the TPCRS scores among the phenotypic groups (P < .001). Regression analysis showed that there is no significant correlation between genotype, enzyme activity, and TPCRS score. Principal component analysis identified 5 variables that contributed to 54% variance in the cohort and are predictive of disease severity: congenital malformation, cardiac involvement, endocrine deficiency, myopathy, and growth. Conclusions We established a scoring algorithm to reliably evaluate disease severity in patients with PGM1-CDG on the basis of their clinical history and presentation. We also identified 5 clinical features that are predictors of disease severity; 2 of these features can be evaluated by physical examination, without the need for specific diagnostic testing and thus allow for rapid assessment and initiation of therapy.

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

FG - Pediatrie

OECD FORD obor

—

Projekt

<a href="/cs/project/NV16-31932A" target="_blank" >NV16-31932A: Molekulární mechanismy dědičných poruch glykosylace</a><br>

Návaznosti

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2016

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Journal of Pediatrics

ISSN

0022-3476

e-ISSN

—

Svazek periodika

175

Číslo periodika v rámci svazku

August

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

15

Strana od-do

130-"136e8"

Kód UT WoS článku

000380835500029

EID výsledku v databázi Scopus

2-s2.0-84971283620