Razmerje uroporfirina I proti koproporfirinu III v urinu avtističnih otrok ob sumu na zastropitev s težkimi kovinami : diplomska naloga

Prešeren, Jure (author), Osredkar, Joško (mentor), France Štiglic, Alenka (comentor)

Avtizem je vseživljenjska razvojna motnja. Je del spektra, ki ga imenujemo spekter avtističnih motenj ali na kratko SAM. Beseda "spekter" se uporablja, ker imajo vse osebe z avtizmom težave na treh glavnih področjih. Ampak se le te pri vsakem posamezniku izražajo drugače in na posameznika vplivajo na drugačne načine. Avtizem ni bolezen ampak sindrom, ki ga povzroča več negenetskih in genetskih dejavnikov. Da bi določili kako onesnaženo okolje vpliva na SAM, je bilo narejenih že več študij o obremenitvi telesa s težkimi kovinami. Porfirini, derivati pri sintezi hema, predstavljajo neodvisen indikator o povečani izpostavljenosti. Proizvodnja hema poteka 85% v celicah eritroidne vrste, ostalo pa v jetrih in ledvicah. Sinteza hema poteka v dveh korakih iz sukcinil koencima A in glicina do uroporfirinogena in v nadaljni seriji korakov preko pentakarboksiporfirinogena in koproporfirinogena v hem. Odvečni porfirinogenski metaboliti se izločijo v urin kot oksidirani porfirini. V študiji je sodelovalo 32 otrok, od katerih smo zbrali vzorce urina in jih razdelili v dve skupini glede na diagnozo. Prva je kontrolna skupina, ki vključuje otroke z drugimi nevrološkimi motnjami, druga pa je skupina avtizem, v kateri so otroci z diagnozo avtizem ali Aspergerjev sindrom. Vključeni so otroci obeh spolov starosti od >1 do 15 let. Skupini smo med seboj statistično primerjali glede na vsebnosti porfirinov v urinu in težkih kovin v krvi ali serumu. Rezultati meritev porfirinov v urinu kažejo pomemben delež odstopanj nad zgornjo in spodnjo mejo referentnih vrednosti v obeh skupinah. Razmerje uro I/kopro III je povišano pri 26 od 32 otrok (81,25%), od teh 8 (61,54%) iz kontrolne skupine in 18 (94,74%) iz skupine avtizem. To nakazuje da je to pomemben podatek pri otrocih z nevrološkimi motnjami, še posebno pri otrocih z SAM. Pri meritvah težkih kovin v serumu ali krvi pa smo zaznali le minimalna odstopanja iz katerih se ne da sklepati kakršnekoli povezave med porfirinskimi vrednostmi. Statistična obdelava podatkov za porfirine in težke kovine ne kaže statistično pomembne razlike (p > 0,05) med skupinama.

• Language: Slovenian
• Keywords: avtizem porfirini HPLC diagnostika težke kovine biosinteza
• Work type: Undergraduate thesis
• Typology: 2.11 - Undergraduate Thesis
• Organization: FFA - Faculty of Pharmacy
• Place of publishing: Ljubljana
• Publisher: [Jure P.]
• Year: 2010
• Number of pages: IX, 44 f.
• PID: 20.500.12556/RUL-121339
• UDC: 577
• COBISS.SI-ID: 2854769
• Publication date in RUL: 05.10.2020

Secondary language

• Language: English
• Title: Uroporphyrin I versus coproporhyrin III ratio in urine of autistic children at suspicion of heavy metal poisoning

Abstract

Autism is a lifelong nurodevelopmental disorder. It is a part of the spectrum called autism spectrum disorder or ASD. Every person with autism has difficulties in three main areas but the symptoms and behaviour vary from each individual, that's why the word ''spectrum'' is used. Autism is not a disease but a syndrome that is caused by multiple genetic and nongenetic factors. There have been many studies performed on heavy metal toxicity to determine how environmental pollutants contribute to ASD. Porphyrins are derivatives of heme synthesis and represent an independent indicator of heavy metal burden. Heme synthesis mainly accours in erythroid cells and also in liver and kidneys. It is performed by two steps from succinyl coenzyme A and glycine to uroporphyrinogen and in further series of steps from pentacarboxyporphyrinogen and coproporphyrinogen into heme. Redundant porphyrinogenic metabolites are excreted into urine as oxidized porphyrins. Our study includes 32 children. Their urine was collected and they were devided into two groups. One is the control group that includes children with other neurological disorders and second is the autism group that includes chidren with autism and Asperger's disorder. Children are male and female, aged from >1 to 15 years. We statisticaly compared the two groups for the values of porphyrins in urine and heavy metals in blood or serum. Results of porphyrin levels in urine show significant deviation both above and below the reference values in both groups. URO I/COPRO III ratio is increased in 26 of 32 children (81,25%), of which 8 (61,54%) are in control group and 18 (94,74%) are in autism group. This shows to be an important data for children with nurodevelopmental disorders specially for children diagnosed with ASD. Determination of heavy metals in whole blood or serum showed only minimal deviation that do not suggest any relation to porphyrin levels. Statistical data processing of porphyrin and heavy metal results shows no statistical significance (p > 0,05) between our groups.