Porphyria

Li-Porphyrias ke sehlopha sa mathata a sa tloaelehang a futsitsoeng. Karolo ea bohlokoa ea hemoglobin, e bitsoang heme, ha e entsoe hantle. Hemoglobin ke protheine e lisele tse khubelu tsa mali tse tsamaisang oksijene. Heme e boetse e fumanoa ka myoglobin, protheine e fumanoang mesifa e itseng.

Ka tloaelo, 'mele o etsa heme ka methati e mengata. Li-porphyrin li entsoe ka methati e mengata ea ts'ebetso ena. Batho ba nang le porphyria ba haelloa ke li-enzyme tse hlokahalang bakeng sa ts'ebetso ena. Sena se baka bongata bo sa tloaelehang ba li-porphyrin kapa lik'hemik'hale tse amanang le tsona ho aha 'meleng.

Ho na le mefuta e fapaneng ea porphyria. Mofuta o tloaelehileng haholo ke porphyria cutanea tarda (PCT).

Lithethefatsi, tšoaetso, joala le lihormone tse kang estrogen li ka baka litlhaselo tsa mefuta e meng ea porphyria.

Porphyria e futsitsoe. Sena se bolela hore bothata bona bo fetisoa ke malapa.

Porphyria e baka matšoao a mararo a maholo:

• Bohloko ba mpeng kapa ho peperana (ke mefuta e meng feela ea lefu lena)
• Ho ba le kutlo ho leseli le ka bakang maqhubu, makhopho le makhopho a letlalo (photodermatitis)
• Mathata a tsamaiso ea methapo le mesifa (ho oa, ho ferekana kelellong, tšenyo ea methapo)

Litlhaselo li ka hlaha ka tšohanyetso. Hangata li qala ka bohloko bo boholo ba mpeng bo lateloang ke ho hlatsa le ho sokela. Ho tsoa letsatsing ho ka baka bohloko, maikutlo a mocheso, ho ruruha, le bofubelu ba letlalo le ho ruruha. Blisters e fola butle, hangata ka liphetoho kapa 'mala oa letlalo. Lefu lena le ka senyeha. Moroto o ka fetoha o mofubelu kapa o sootho kamora tlhaselo.

Matšoao a mang a kenyelletsa:

• Bohloko ba mesifa
• Bofokoli ba mesifa kapa ho holofala
• Ho ba lerootho kapa ho hlohlona
• Bohloko matsohong kapa maotong
• Bohloko bo ka morao
• Botho boa fetoha

Litlhaselo ka linako tse ling li ka beha bophelo kotsing, tsa hlahisa:

• Khatello ea mali e tlase
• Ho se leka-lekane ho matla ha electrolyte
• Ho tshoha

Mofani oa hao oa tlhokomelo ea bophelo o tla etsa tlhahlobo ea 'mele, e kenyeletsang ho mamela pelo ea hau. U kanna oa ba le pelo e potlakileng (tachycardia). Mofani oa hau a ka fumana hore li-tendon reflexes tsa hau tse tebileng (mangole kapa tse ling) ha li sebetse hantle.

Liteko tsa mali le moroto li ka senola mathata a liphio kapa mathata a mang. Tse ling tsa liteko tse ka etsoang li kenyelletsa:

• Likhase tsa mali
• Phanele e akaretsang ea metabolic
• Maemo a Porphyrin le maemo a lik'hemik'hale tse ling tse amanang le boemo bona (a hlahlojoa maling kapa morong)
• Ultrasound ea mpa
• Ho hlahloba urinal

Meriana e meng e sebelisetsoang ho alafa porphyria ka tšohanyetso (e hlobaetsang) e ka kenyelletsa:

• Hematin e fanoang ka methapo (ka methapo)
• Meriana ea bohloko
• Propranolol ho laola ho otla ha pelo
• Mekhoa ea ho u thusa hore u khobe matšoafo 'me u se ke ua tšoenyeha

Mefuta e meng ea kalafo e ka kenyelletsa:

• Beta-carotene e tlatselletsa ho fokotsa photosensitivity
• Chloroquine ka tekanyetso e tlase ho fokotsa maemo a li-porphyrin
• Maro le tsoekere ho matlafatsa maemo a lik'habohaedreite, tse thusang ho fokotsa tlhahiso ea li-porphyrin
• Ho tlosa mali (phlebotomy) ho fokotsa maemo a li-porphyrin

Ho latela mofuta oa porphyria eo u nang le eona, mofani oa hau a ka u joetsa ho:

• Qoba joala bohle
• Qoba lithethefatsi tse ka etsang hore u hlaseloe
• Qoba ho lematsa letlalo
• Qoba khanya ea letsatsi ka hohle kamoo ho ka khonehang 'me u sebelise setlolo se sireletsang letlalo ha u le kantle
• Ja lijo tse nang le lik'habohaedreite tse phahameng

Lisebelisoa tse latelang li ka fana ka tlhaiso-leseling e batsi ka porphyria:

• Mokhatlo oa American Porphyria - www.porphyriafoundation.org/for-patients/patient-portal
• Setsi sa Naha sa Lefu la Ts'oaetso le Mafu a Ts'ilong le a Diphio - www.niddk.nih.gov/health-information/liver-disease/porphyria
• Mokhatlo oa Naha oa Mathata a Rare - rarediseases.org/rare-diseases/porphyria

Porphyria ke lefu la bophelo bohle le nang le matšoao a tlang le ho fela. Mefuta e meng ea lefu lena e baka matšoao a mangata ho feta a mang. Ho fumana kalafo e nepahetseng le ho lula hole le lintho tse ka u susumetsang ho ka thusa ho lelefatsa nako lipakeng tsa litlhaselo.

Mathata a ka kenyelletsa:

• Coma
• Majoe a majoe
• Ho shoa litho
• Ho hloleha ho phefumoloha (ka lebaka la bofokoli ba mesifa ea sefuba)
• Ho phatloha hoa letlalo

Fumana thuso ea bongaka hang hoba u be le matšoao a tlhaselo e matla. Bua le mofani oa hau ka kotsi ea boemo bona haeba u na le nalane e telele ea bohloko ba mpeng bo sa tsejoeng, mathata a mesifa le methapo, le kutloisiso ea khanya ea letsatsi.

Keletso ea lefutso e ka thusa batho ba batlang ho ba le bana le ba nang le nalane ea lelapa ea mofuta ofe kapa ofe oa porphyria.

Porphyria cutanea tarda; Porphyria e kenang khafetsa; Lefutso coproporphyria; Congenital erythropoietic porphyria; Erythropoietic protoporphyria

• Porphyria cutanea tarda matsohong

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.

SJ e felletseng, Wiley JS. Heme biosynthesis le mathata a eona: porphyrias le sideroblastic anemias. Ka: Hoffman R, Benz EJ, Silberstein LE, et al, eds. Hematology: Melao-motheo le Tloaelo ea Motheo. La 7th. Philadelphia, PA: Elsevier; 2018: khaolo ea 38.

Habif TP. Maloetse a amanang le leseli le mathata a 'mala. Ka: Habif TP, e hlophisitsoeng. Clinical Dermatology: Tataiso ea Mmala ho Phumano le Phekolo. La 6th. Philadelphia, PA: Elsevier; 2016: khaolo ea 19.

Phahamisa RJ. Li-porphyrias. Ka: Goldman L, Schafer AI, li-eds. Phekolo ea Goldman-Cecil. La 25th ed. Philadelphia, PA: Elsevier Saunders; 2016: khaolo ea 210.