Porphyria

Porphyrias iboka rezvinhu zvisingawanzo kuwanikwa nhaka. Chikamu chakakosha chehemoglobin, inonzi heme, haina kugadzirwa nemazvo. Hemoglobin ipuroteni mumasero matsvuku eropa anotakura oxygen. Heme inowanikwawo mu myoglobin, protein inowanikwa mune mamwe mhasuru.

Kazhinji, muviri unoita heme mune yakawanda-nhanho maitiro. Porphyrins inogadzirwa mukati mematanho akati wandei eiyi maitiro. Vanhu vane porphyria vari kushaya mamwe enzyme anodikanwa kuitira izvi. Izvi zvinokonzeresa kuwanda zvisina kufanira kwemapherifini kana makemikari anoenderana kuvaka mumuviri.

Kune akawanda marudzi akasiyana eporphyria. Rudzi rwakajairika ndeye porphyria cutanea tarda (PCT).

Zvinodhaka, hutachiona, doro, uye mahormone senge estrogen anogona kukonzera kurwisa kwemamwe marudzi e porphyria.

Porphyria inogara nhaka. Izvi zvinoreva kuti kusagadzikana kunopfuudzwa kuburikidza nemhuri.

Porphyria inokonzeresa matatu makuru zviratidzo:

• Kutambudzika kwepamuviri kana kupwanya (chete mune mamwe marudzi echirwere)
• Kunzwisisa kune mwenje kunogona kukonzera kuputika, kuputika, uye kupora kweganda (photodermatitis)
• Matambudziko nehurongwa hwemitsipa uye mhasuru (kufenda, kusagadzikana kwepfungwa, kukuvara kwenzara)

Kurwiswa kunogona kuitika kamwe kamwe. Vanowanzo tanga nemarwadzo akakomba mudumbu anoteverwa nekurutsa uye kuzvimbirwa. Kuva kunze muzuva kunogona kukonzera marwadzo, kunzwa kwekushisa, kuputika, uye kutsvuka kweganda uye kuzvimba. Blisters inopora zvishoma nezvishoma, kazhinji iine vanga kana ganda rinoshanduka. Iyo vanga inogona kunge iri kushatisa. Weti inogona kuita tsvuku kana brown mushure mekurwiswa.

Zvimwe zviratidzo zvinosanganisira:

• Kutambudzika kwemhasuru
• Tsvina kushaya simba kana kuoma mitezo
• Unhu kana kugwinha
• Marwadzo mumaoko kana makumbo
• Marwadzo kumashure
• Unhu hunochinja

Kurwisa kunogona dzimwe nguva kutyisidzira hupenyu, kuchigadzira:

• Kuderera kweropa
• Yakakura electrolyte kusaenzana
• Shock

Anokuchengetedza hutano achaita bvunzo dzepanyama, dzinosanganisira kuteerera kumoyo wako. Iwe unogona kunge uine moyo wekutsanya moyo (tachycardia). Iye mupi anogona kuona kuti yako yakadzika tendon reflexes (mabvi jerks kana vamwe) haashande nemazvo.

Kuongororwa kweropa uye weti kunogona kuratidza matambudziko eitsvo kana mamwe matambudziko. Mimwe yemimwe bvunzo inogona kuitwa inosanganisira:

• Magasi eropa
• Yakakwana metabolic pani
• Porphyrin mazinga uye nhanho dzemamwe makemikari akabatanidzwa kune ino mamiriro (akatariswa muropa kana weti)
• Ultrasound yemudumbu
• Kuongorora urinal

Mimwe yemishonga inoshandiswa kurapa kamwe kamwe (acute) kurwisa kwe porphyria inogona kusanganisira:

• Hematin inopihwa kuburikidza netsinga (intravenously)
• Mushonga wemarwadzo
• Propranolol yekudzora kurova kwemoyo
• Sedatives kukubatsira iwe kunzwa wakadzikama uye kushoma kunetseka

Mimwe mishonga inogona kusanganisira:

• Beta-carotene inowedzera kudzikisira photosensitivity
• Chloroquine mune yakaderera doses yekudzikisa mwero we porphyrins
• Fluid uye glucose inowedzera makabhohaidhireti mazinga, ayo anobatsira kudzikisira kugadzirwa kwe porphyrins
• Kubviswa kweropa (phlebotomy) kudzikisa mazinga e porphyrins

Zvichienderana nerudzi rwe porphyria yauinayo, mupi wako anogona kukuudza kuti:

• Dzivisa doro rose
• Dzivisa zvinodhaka zvinogona kukonzera kurwisa
• Dzivisa kukuvadza ganda
• Dzivisa chiedza chezuva zvakanyanya sezvinobvira uye shandisa sunscreen kana uri panze
• Idya kudya kwakanyanya-makabhohaidhiretsi

Izvi zvinotevera zviwanikwa zvinogona kupa rumwe ruzivo nezve porphyria:

• American Porphyria Foundation - www.porphyriafoundation.org/for-patients/patient-portal
• National Institute of Diabetes uye Digestive uye Kidney Zvirwere - www.niddk.nih.gov/health-information/liver-disease/porphyria
• National Sangano reRare Dambudziko - rarediseases.org/rare-diseases/porphyria

Porphyria chirwere chehupenyu hwese chine zviratidzo zvinouya uye zvichipera. Dzimwe mhando dzechirwere dzinokonzera zvimwe zviratidzo kupfuura zvimwe. Kuwana kurapwa kwakaringana uye kugara kure nezvinokonzera kunogona kubatsira kurebesa nguva iri pakati pekurwiswa.

Zvinetso zvinogona kusanganisira:

• Coma
• Matombo
• Kuoma mitezo
• Kukundikana kwekufema (nekuda kwekushaya simba kwepfupa mhasuru)
• Kupararira kweganda

Tora rubatsiro rwechiremba nekukurumidza paunenge uine zviratidzo zvekurwisa kwakanyanya. Taura nemupi wako nezve njodzi yako pachiitiko ichi kana uine nhoroondo refu yekurwadziwa kwepamuviri kusingawanikwe, mhasuru nematambudziko etsinga, uye nekuziva kune zuva.

Kurairidzwa kwemageneti kunogona kubatsira vanhu vanoda kuve nevana uye vane nhoroondo yemhuri yechero mhando ye porphyria.

Porphyria cutanea tarda; Chirwere chinoputika porphyria; Nhaka coproporphyria; Kuberekwa erythropoietic porphyria; Erythropoietic protoporphyria

• Porphyria cutanea tarda pamaoko

Bissell DM, Anderson KE, Bonkovsky HL. Porphyria. N Engl J Med. 2017; 377 (9): 862-872. PMID: 28854095 www.ncbi.nlm.nih.gov/pubmed/28854095.

Yakazara SJ, Wiley JS. Heme biosynthesis uye kusagadzikana kwayo: porphyrias uye sideroblastic anemias. Muna: Hoffman R, Benz EJ, Silberstein LE, et al, eds. Hematology: Basic Misimboti uye Maitiro. 7th ed. Philadelphia, PA: Elsevier; 2018: chitsiko 38.

Habif TP. Zvirwere zvine chekuita nechiedza uye kusagadzikana kwemavara. Mune: Habif TP, rakanyorwa. Clinical Dermatology: Ruvara Gwara Rekuongorora uye Kurapa. 6th ed. Philadelphia, PA: Elsevier; 2016: chits. 19.

Simudza RJ. The porphyrias. Mune: Goldman L, Schafer AI, eds. Goldman-Cecil Mushonga. 25th ed. Philadelphia, PA: Elsevier Saunders; 2016: chits. 210.