I-Progeria

IProgeria yisimo sezakhi zofuzo esingajwayelekile esikhiqiza ukuguga ngokushesha ezinganeni.

IProgeria yisimo esingajwayelekile. Kuyamangalisa ngoba izimpawu zayo zifana kakhulu nokuguga komuntu okujwayelekile, kepha kwenzeka ezinganeni ezincane. Ezimweni eziningi, ayidluliswa ngemindeni. Akuvamile ukubonwa ezinganeni ezingaphezu kweyodwa emndenini.

Izimpawu zifaka:

• Ukwehluleka kokukhula ngonyaka wokuqala wokuphila
• Ubuso obuncane, obushwabene noma obushwabene
• Impandla
• Ukulahleka kwamashiya nezinkophe
• Isiqu esifushane
• Ikhanda elikhulu ngosayizi wobuso (macrocephaly)
• Vula indawo ethambile (fontanelle)
• Umhlathi omncane (micrognathia)
• Isikhumba esomile, esinamaxolo, esizacile
• Ububanzi obunomkhawulo bokunyakaza
• Amazinyo - ukubambezeleka noma ukwakheka okungekho

Umhlinzeki wezokunakekelwa kwempilo uzokwenza izivivinyo zomzimba bese e-oda izivivinyo zaselebhu. Lokhu kungakhombisa:

• Ukumelana ne-insulin
• Izinguquko zesikhumba ezifana nalezi ezibonakala ku-scleroderma (izicubu ezixhumanisayo ziba lukhuni futhi ziqine)
• Ngokuvamile amazinga evamile we-cholesterol ne-triglyceride

Ukuhlolwa kwengcindezi yenhliziyo kungaveza izimpawu zokuqina kwemithambo yegazi kwasekuqaleni.

Ukuhlolwa kofuzo kungathola ushintsho kuhlobo (I-LMNA) lokho kubangela iprogeria.

Akukho ukwelashwa okuqondile kwe-progeria. Imithi ye-Aspirin ne-statin ingasetshenziselwa ukuvikela ekuhlaselweni yinhliziyo noma isifo sohlangothi.

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

IProgeria ibangela ukufa kwangaphambi kwesikhathi. Abantu abanesimo imvamisa baphila kuphela eminyakeni yabo yobusha (isilinganiso sokuphila seminyaka eyi-14). Kodwa-ke, abanye bangaphila eminyakeni yabo yokuqala yama-20. Imbangela yokufa kaningi ihlobene nenhliziyo noma isifo sohlangothi.

Izinkinga zingafaka:

• Ukuhlaselwa yinhliziyo (i-infarction ye-myocardial)
• Unhlangothi

Shayela umhlinzeki wakho uma ingane yakho ingabonakali ikhula noma ikhula ngokujwayelekile.

I-Hutchinson-Gilford progeria syndrome; I-HGPS

• Ukuvaleka komthambo weCoronary

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

UGordon LB, uBrown WT, uCollins FS. IHutchinson-Gilford progeria syndrome. Ukubuyekezwa kweGeneReviews. 2015: 1. I-PMID: 20301300 www.ncbi.nlm.nih.gov/pubmed/20301300. Kubuyekezwe ngoJanuwari 17, 2019. Kufinyelelwe ngoJulayi 31, 2019.