Iprogeria

Iprogeria yimeko enqabileyo yemfuza evelisa ukuguga ngokukhawuleza ebantwaneni.

IProgeria yimeko enqabileyo. Kuyamangalisa kuba iimpawu zayo zifana kakhulu nokuguga komntu okuqhelekileyo, kodwa kwenzeka ebantwaneni abancinci. Kwiimeko ezininzi, ayidluliselwanga kwiintsapho. Ayifane ibonwe ngaphezulu komntwana omnye kusapho.

Iimpawu zibandakanya:

• Ukungaphumeleli ukukhula kunyaka wokuqala wobomi
• Imxinwa, ishwabene okanye ubuso obushwabeneyo
• Inkqayi
• Ukulahleka kwamashiya kunye neenkophe
• Isiqu esifutshane
• Intloko enkulu ngobukhulu bobuso (macrocephaly)
• Vula indawo ethambileyo (fontanelle)
• Umhlathi omncinci (micrognathia)
• Yomile, inamaxolo, isikhumba esibhityileyo
• Uluhlu olunomda lokuhamba
• Amazinyo - ukulibaziseka okanye ukungabikho

Umboneleli wezempilo uya kwenza uvavanyo lomzimba kunye noku-odola uvavanyo lwelebhu. Oku kungabonisa:

• Ukuxhathisa kwe-insulin
• Ulusu lutshintsha ngokufana nolo lubonwa kwi-scleroderma (izihlunu ezidibeneyo ziba lukhuni kwaye ziqine)
• Ngokubanzi amanqanaba e-cholesterol eqhelekileyo kunye namanqanaba e-triglyceride

Ukuvavanywa koxinzelelo lwentliziyo kunokubonisa iimpawu ze-atherosclerosis yokuqala yemithambo yegazi.

Ukuvavanywa kwemfuza kunokufumana utshintsho kwimfuza (I-LMNA) ebangela iprogeria.

Akukho lonyango oluthile lweprogeria. Amayeza e-Aspirin kunye ne-statin angasetyenziselwa ukukhusela ekuhlaselweni yintliziyo okanye ukubetha.

Progeria Research Foundation, Inc. - www.progeriaresearch.org

Iprogeria ibangela ukufa kwangethuba. Abantu abanemeko bahlala behlala kuphela kwiminyaka yabo yokufikisa (umndilili wobomi beminyaka eli-14). Nangona kunjalo, abanye banokuhlala kwi-20 yabo yokuqala. Unobangela wokufa uhlala enxulumene nentliziyo okanye icala.

Iingxaki zinokubandakanya:

• Ukuhlaselwa yintliziyo (i-myocardial infarction)
• Ukubetha

Fowunela umboneleli wakho ukuba umntwana wakho akabonakali ekhula okanye ekhula ngesiqhelo.

IHutchinson-Gilford progeria syndrome; I-HGPS

• Ukuvaleka kwemithambo yegazi

UGordon LB. IHutchinson-Gilford progeria syndrome (iprogeria). Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, ii-eds. Incwadi kaNelson yeNcwadi yePediatrics. Umhla wama-21. IPhiladelphia, PA: Elsevier; 2020: isahluko 109.

UGordon LB, uBrown WT, uCollins FS. IHutchinson-Gilford progeria yesifo. Uphononongo lweGene. Ngo-2015: 1. IINKCUKACHA: 20301300 www.ncbi.nlm.nih.gov/pubmed/20301300. Ukuhlaziywa ngoJanuwari 17, 2019. Ifikeleleke ngoJulayi 31, 2019.