IPorphyria

Iiporphyrias liqela leengxaki ezinqabileyo ezizuzwe njengelifa. Inxalenye ebalulekileyo yehemoglobin, ebizwa ngokuba yihemme, ayenziwanga kakuhle. IHemoglobin yiprotein ekwiiseli ezibomvu zegazi ezithwala ioksijini. I-Heme ikwafumaneka kwi-myoglobin, iprotein efumaneka kwimisipha ethile.

Ngokwesiqhelo, umzimba wenza i-heme kwinkqubo yamanyathelo ngamanqanaba. Iiporphyrins zenziwa ngexesha lamanyathelo aliqela ale nkqubo. Abantu abane porphyria abanazo ii-enzymes ezithile ezifunekayo kule nkqubo. Oku kubangela inani elingaqhelekanga le-porphyrins okanye imichiza enxulumene nokwakha emzimbeni.

Zininzi iindlela ezahlukeneyo ze porphyria. Olona hlobo luqhelekileyo yi porphyria cutanea tarda (PCT).

Iziyobisi, usulelo, utywala, kunye neehomoni ezinjenge-estrogen zinokubangela uhlaselo lweentlobo ezithile ze-porphyria.

Porphyria ilifa. Oku kuthetha ukuba ukuphazamiseka kudluliselwa kwiintsapho.

I-Porphyria ibangela iimpawu ezintathu eziphambili:

• Iintlungu zesisu okanye ukubamba (kuphela kwezinye iintlobo zesifo)
• Ubuntununtunu bokukhanya obunokubangela irhashalala, ukuqhwanyaza, kunye nokonakala kolusu (i-photodermatitis)
• Iingxaki zenkqubo yemithambo-luvo kunye nezihlunu (ukuxhuzula, ukuphazamiseka kwengqondo, ukonakala kwentliziyo)

Uhlaselo lunokwenzeka ngesiquphe. Bahlala beqala ngeentlungu ezibuhlungu zesisu ezilandelwa kukugabha kunye nokuqhinwa. Ukuphuma elangeni kunokubangela iintlungu, uvakalelo lobushushu, ukudumba, kunye nokubomvu kolusu kunye nokudumba. I-blisters iphilisa ngokukhawuleza, rhoqo kunye nokutshintsha okanye umbala wesikhumba. Isikrelemnqa sisenokuba kukungaziphathi kakuhle. Umchamo ungajika ubomvu okanye umdaka emva kohlaselo.

Ezinye iimpawu zibandakanya:

• Intlungu yezihlunu
• Ubuthathaka bemisipha okanye ukukhubazeka
• Ubudenge okanye ukurhawuzelela
• Ubuhlungu kwiingalo okanye emilenzeni
• Intlungu emva
• Ubuntu buyatshintsha

Uhlaselo ngamanye amaxesha lusongela ubomi, luvelisa:

• Uxinzelelo lwegazi oluphantsi
• Ukungalingani okukhulu kwe-electrolyte
• Umothuko

Umboneleli wakho wezempilo uya kwenza uvavanyo lomzimba, olubandakanya ukumamela intliziyo yakho. Unokuba nenqanaba lentliziyo elikhawulezayo (tachycardia). Umboneleli unokufumanisa ukuba i-tendon reflexes yakho enzulu (idolo okanye ezinye) azisebenzi kakuhle.

Uvavanyo lwegazi kunye nomchamo lunokubonisa iingxaki zezintso okanye ezinye iingxaki. Olunye uvavanyo olunokwenziwa lunokubandakanya:

• Iigesi zegazi
• Iphaneli yemetabolism ebanzi
• Amanqanaba ePorphyrin kunye namanqanaba ezinye iikhemikhali ezinxulunyaniswe nale meko (kujongwa egazini okanye kumchamo)
• I-Ultrasound yesisu
• Uhlalutyo lomchamo

Amanye amayeza asetyenziselwa ukunyanga ngesiquphe (acute) ukuhlasela kwe-porphyria kunokubandakanya:

• I-Hematin inikwe nge-vein (ngaphakathi)
• Iyeza leentlungu
• Ipropranolol yokulawula ukubetha kwentliziyo
• Iindlela zokukunceda uzive uzolile kwaye ungakhathazeki kangako

Olunye unyango lunokubandakanya:

• I-Beta-carotene yongeza ukunciphisa i-photosensitivity
• I-Chloroquine ngeedosi eziphantsi ukunciphisa amanqanaba e-porphyrins
• IiFluids kunye neglucose yokunyusa amanqanaba e-carbohydrate, enceda ukunciphisa umda kwimveliso yeeporphyrins
• Ukususwa kwegazi (phlebotomy) ukunciphisa amanqanaba e-porphyrins

Kuxhomekeke kuhlobo lwe-porphyria onayo, umboneleli wakho unokukuxelela ukuba:

• Gwema bonke utywala
• Gwema iziyobisi ezinokubangela ukuhlaselwa
• Kuphephe ukwenzakalisa ulusu
• Gwema ukukhanya kwelanga kangangoko kunokwenzeka kwaye usebenzise i-sunscreen xa ungaphandle
• Yitya ukutya okunekhabohayidrethi ephezulu

Ezi zixhobo zilandelayo zinokubonelela ngolwazi oluthe kratya kwi-porphyria:

• Isiseko seAmerican Porphyria - www.porphyriafoundation.org/for-patients/patient-portal
• IZiko leLizwe leSwekile kunye neZifo zeDigestive kunye neZintso- www.niddk.nih.gov/health-information/liver-disease/porphyria
• Umbutho weSizwe woNxunguphalo oluNqabileyo-ararediseases.org/rare-diseases/porphyria

I-Porphyria sisifo esihlala ixesha elide kunye neempawu eziza kwaye zihambe. Ezinye iintlobo zesi sifo zibangela iimpawu ezininzi kunezinye. Ukufumana unyango olululo kunye nokuhlala kude nezinto ezinokubangela kunokunceda ukwandisa ixesha phakathi kohlaselo.

Iingxaki zinokubandakanya:

• Coma
• Amatye egall
• Ukukhubazeka
• Ukusilela ekuphefumuleni (ngenxa yokuba buthathaka kwezihlunu zesifuba)
• Ukukrala kolusu

Fumana uncedo lwezonyango ngokukhawuleza xa unempawu zokuhlaselwa ngokukhawuleza. Thetha nomboneleli wakho malunga nomngcipheko wale meko ukuba unembali ende yeentlungu zesisu ezingafunyaniswanga, iingxaki zemisipha kunye nemithambo-luvo, kunye nemvakalelo yokukhanya kwelanga.

Ingcebiso ngemfuzo inokunceda abantu abafuna ukuba nabantwana kwaye banembali yosapho yalo naluphi na uhlobo lwe porphyria.

IPorphyria cutanea tarda; I-porphyria eqhubekayo; Ilifa coproporphyria; Ukuzalwa erythropoietic porphyria; I-Erythropoietic protoporphyria

• I-Porphyria cutanea tarda ezandleni

I-Bissell DM, kunye noAnderson KE, uBonkovsky HL. IPorphyria. N Engl J Med. Ngo-2017; 377 (9): 862-872. IINKCUKACHA: 28854095 www.ncbi.nlm.nih.gov/pubmed/28854095.

I-SJ epheleleyo, iWiley JS. I-Heme biosynthesis kunye nokuphazamiseka kwayo: i-porphyrias kunye ne-sideroblastic anemias. Ku: Hoffman R, Benz EJ, Silberstein LE, et al, ii-eds. I-Hematology: Imigaqo esisiseko kunye nokuziqhelanisa. Umhla wesi-7. IPhiladelphia, PA: Elsevier; I-2018: isahluko 38.

IHabif TP. Izifo ezinxulumene nokukhanya kunye nokuphazamiseka kombala. Ku: Habif TP, ed. I-Clinical Dermatology: Isikhokelo sombala wokufumanisa isifo kunye nonyango. Umhla wesi-6. IPhiladelphia, PA: Elsevier; 2016: isahluko 19.

Nyusa RJ. Iiporphyrias. Ku: IGoldman L, iSchafer AI, ii-eds. Amayeza eGoldman-Cecil. Umhla wama-25. IPhiladelphia, PA: Elsevier Saunders; I-2016: isahluko 210.