Uncommon Cause of Hypertriacylglycerolaemia in a Breastfed Infant
Neobvyklá príčina hypertriacylglycerolémie u dojčeného dieťaťa
Autori predkladajú kazuistiku 3-mesačného pacienta s nálezom závažnej hypertriacylglycerolémie a hypercholesterolémie,u ktorého došlo k úprave laboratórnych parametrov po zmene výživy zmaterského na umelé mlieko.Vzhľadom na uvedený vstupný laboratórny nález, ktorý je typický pre hyperlipoproteinémiu typ III (dysbetalipoproteinémiu)bol u pacienta vyšetrený apo E polymorfizmus. Zistený bol v bežnej populácii zriedkavý fenotypE 4/2, ktorý znamená prítomnosť mutantnej formy apolipoproteínu E, zodpovedného za abnormálny katabolizmuslipoproteínových častíc z plazmy. K manifestácii poruchy už v tomto veku prispel pravdepodobne bližšie neurčenýfaktor nachádzajúci sa v materskom mlieku.
Klíčová slova:
hypertriacylglycerolémia, hypercholesterolémia, dysbetalipoproteinémia, apolipoproteín E,dojčenie
Authors:
M. Belošovičová 1; V. Behúlová 2; K. Fabríciová 1; V. Bzdúch 1; M. Benedeková 1
Authors‘ workplace:
I. detská klinika LFUK a DFNsP, Bratislava, 1prednostka doc. MUDr. M. Benedeková, PhD. Oddelenie klinickej biochémie DFNsP, Bratislava
2
Published in:
Čes-slov Pediat 2002; (7): 365-366.
Category:
Overview
The authors present the case-history of a 3-month old patient with severe hypertriacylglycerolaemia andhypercholesterolaemia, where the laboratory parameters improved after mother’s breast milk was substituted fordonor’s milk, later for formula. With regard to the mentioned baseline laboratory finding which is typical forhyperlipoproteinaemia type III (dysbetalipoproteinaemia), the authors examined in the patient apo E polymorphism.They found phenotype E4/2 which is rare in the population and implies the presence of a mutant form ofapolipoprotein E, responsible for an abnormal catabolism of lipoprotein plasma particles. To the manifestation ofthe disorder at the patient’s age contributed probably as so far undefined factor in human milk.
Key words:
hypertriacylglycerolaemia, hypercholesterolaemia, dysbetalipoproteinaemia, apolipoprotein E,breastfeeding
Labels
Neonatology Paediatrics General practitioner for children and adolescentsArticle was published in
Czech-Slovak Pediatrics
2002 Issue 7
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