I-Porphyria

Ama-Porphyrias ayiqembu lezifo ezingajwayelekile ezizuzwe njengefa. Ingxenye ebalulekile ye-hemoglobin, ebizwa ngokuthi i-heme, ayenziwa kahle. IHemoglobin yiprotheni enamaseli abomvu egazi athwala umoya-mpilo. I-Heme nayo itholakala ku-myoglobin, iphrotheni etholakala emisipheni ethile.

Imvamisa, umzimba wenza i-heme ngenqubo yezinyathelo eziningi. Ama-Porphyrins enziwa phakathi kwezinyathelo ezimbalwa zale nqubo. Abantu abane-porphyria bashoda ngama-enzyme athile adingekayo kule nqubo. Lokhu kubangela inani elingajwayelekile lama-porphyrin noma amakhemikhali ahlobene nokwakha emzimbeni.

Kunezinhlobo eziningi ze-porphyria. Uhlobo oluvame kakhulu yi-porphyria cutanea tarda (PCT).

Izidakamizwa, ukutheleleka, utshwala, namahomoni afana ne-estrogen kungadala ukuhlaselwa kwezinhlobo ezithile ze-porphyria.

I-Porphyria izuzwe njengefa. Lokhu kusho ukuthi lesi sifo sidluliselwa ngemindeni.

I-Porphyria ibangela izimpawu ezintathu ezinkulu:

• Ubuhlungu besisu noma ukuqunjelwa (kuphela kwezinye izinhlobo zesifo)
• Ukuzwela ekukhanyeni okungadala ukuqubuka, ukushwabana, kanye nokulimala kwesikhumba (i-photodermatitis)
• Izinkinga ngesistimu yezinzwa nemisipha (ukuquleka, ukuphazamiseka kwengqondo, ukulimala kwezinzwa)

Ukuhlaselwa kungenzeka ngokuzumayo. Imvamisa ziqala ngobuhlungu obukhulu besisu obulandelwa ukuphalaza nokuqunjelwa. Ukuphuma elangeni kungadala izinhlungu, imizwa yokushisa, ukushwabana, nokubomvu kwesikhumba nokuvuvukala. Amabhamuza aphulukisa kancane, imvamisa ngokushintshwa kwesibazi noma umbala wesikhumba. Isibazi kungenzeka sonakalise ubuntu. Umchamo ungashintsha ubomvu noma ube nsundu ngemuva kokuhlaselwa.

Ezinye izimpawu zifaka:

• Ubuhlungu bemisipha
• Ubuthakathaka bemisipha noma ukukhubazeka
• Ukuba ndikindiki noma ukuncinza
• Ubuhlungu obusezingalweni noma emilenzeni
• Ubuhlungu ngemuva
• Ubuntu buyashintsha

Ukuhlaselwa kwesinye isikhathi kungasongela impilo, kuveze:

• Umfutho wegazi ophansi
• Ukungalingani okukhulu kwe-electrolyte
• Ukushaqeka

Umhlinzeki wakho wokunakekelwa kwezempilo uzokwenza ukuhlolwa komzimba, okubandakanya ukulalela inhliziyo yakho. Ungaba nokushaya kwenhliziyo okusheshayo (tachycardia). Umhlinzeki angathola ukuthi ama-tendon reflexes wakho ajulile (amadolo noma amanye) awasebenzi kahle.

Ukuhlolwa kwegazi nomchamo kungaveza izinkinga zezinso noma ezinye izinkinga. Olunye uvivinyo olungenziwa lubandakanya:

• Amagesi egazi
• Iphaneli yemethodi ephelele
• Amazinga e-Porphyrin namazinga amanye amakhemikhali axhumene nalesi simo (kuhlolwe egazini noma emchameni)
• I-Ultrasound yesisu
• Ukuhlolwa komchamo

Eminye yemithi esetshenziselwa ukwelapha ukuhlaselwa okungazelelwe (okunamandla) kwe-porphyria ingafaka:

• I-Hematin inikezwa ngomthambo (ngemithambo yegazi)
• Umuthi wezinhlungu
• I-Propranolol yokulawula ukushaya kwenhliziyo
• Izindlela zokukusiza uzizwe uzolile futhi ungakhathazeki kakhulu

Ezinye izindlela zokwelashwa zingafaka:

• I-beta-carotene inezela ukunciphisa i-photosensitivity
• I-Chloroquine ngamanani aphansi ukunciphisa amazinga ama-porphyrins
• Uketshezi noshukela ukukhulisa amazinga e-carbohydrate, okusiza ukunciphisa ukukhiqizwa kwama-porphyrins
• Ukususwa kwegazi (phlebotomy) ukunciphisa amazinga ama-porphyrins

Ngokuya ngohlobo lwe-porphyria onayo, umhlinzeki wakho angakutshela ukuthi:

• Gwema bonke utshwala
• Gwema izidakamizwa ezingadala ukuhlaselwa
• Gwema ukulimaza isikhumba
• Gwema ukukhanya kwelanga ngangokunokwenzeka futhi usebenzise i-sunscreen lapho ungaphandle
• Yidla ukudla okunama-carbohydrate amaningi

Izinsizakusebenza ezilandelayo zinganikeza imininingwane eminingi nge-porphyria:

• I-American Porphyria Foundation - www.porphyriafoundation.org/for-patients/patient-portal
• National Institute of Diabetes and Digestive and Kidney Diseases - www.niddk.nih.gov/health-information/liver-disease/porphyria
• Inhlangano Kazwelonke Yezinkinga Ezingajwayelekile - rarediseases.org/rare-diseases/porphyria

I-Porphyria yisifo sempilo yonke esinezimpawu ezizayo nezidlulayo. Ezinye izinhlobo zalesi sifo zidala izimpawu eziningi kunezinye. Ukuthola ukwelashwa okufanele nokuhlala kude nezimbangela kungasiza ukwelula isikhathi phakathi kokuhlaselwa.

Izinkinga zingafaka:

• I-Coma
• Amatshe amatshe amade
• Ukukhubazeka
• Ukwehluleka kokuphefumula (ngenxa yobuthakathaka bemisipha yesifuba)
• Ukuqhuma kwesikhumba

Thola usizo lwezokwelashwa ngokushesha lapho unezimpawu zokuhlaselwa okunamandla. Khuluma nomhlinzeki wakho ngengozi yakho yalesi simo uma unomlando omude wezinhlungu ezingatholakali zesisu, izinkinga zemisipha nezinzwa, nokuzwela kwelanga.

Ukwelulekwa ngofuzo kungazuzisa abantu abafuna ukuba nezingane futhi abanomlando womndeni wanoma yiluphi uhlobo lwe-porphyria.

IPorphyria cutanea tarda; I-porphyria engena ngezikhathi ezithile; Ifa le-coproporphyria; Ukuzalwa kwe-erythropoietic porphyria; I-Erythropoietic protoporphyria

• I-Porphyria cutanea tarda ezandleni

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

I-Fuller SJ, iWiley JS. I-Heme biosynthesis nokuphazamiseka kwayo: i-porphyrias kanye ne-sideroblastic anemias. Ku: Hoffman R, Benz EJ, Silberstein LE, et al, ama-eds. I-Hematology: Izimiso Eziyisisekelo Nokuzijwayeza. Umhla wesi-7. IPhiladelphia, PA: Elsevier; 2018: isahluko 38.

IHabif TP. Izifo ezihlobene nokukhanya kanye nokuphazamiseka kombala. Ku: Habif TP, ed. I-Clinical Dermatology: Umhlahlandlela Wombala Wokuxilongwa Nokwelapha. Umhlaka 6. IPhiladelphia, PA: Elsevier; 2016: isahluko 19.

Phakamisa i-RJ. I-porphyrias. Ku: IGoldman L, iSchafer AI, ama-eds. Imithi yeGoldman-Cecil. Umhla ka-25. IPhiladelphia, PA: Elsevier Saunders; 2016: isahluko 210.