Ènya Alport Dɔlélea? Mina míaƒo nu tso eŋu!

Ède dzesii kpɔ be ʋu vi aɖe le wò aɖuɖɔ mea? Alo ɖe nèsena le ɖokuiwò me ɣeaɖewoɣi be yeƒe to me mekɔna vie o, alo wò nukpɔkpɔ to vovo viea? Esiawo nye nusiwo ŋu míeléa ŋku ɖo boo le míaƒe gbesiagbegbenɔnɔ me ɣeaɖewoɣi o. Gake ɣeaɖewoɣi la, nɔnɔme aɖe ate ŋu anɔ dzesi sue siawo megbe si hiã be woalé ŋku ɖe eŋu vie, abe Alport Syndrome ene. Eyata egbea míaƒo nu tso esia ŋu le mɔ bɔbɔe aɖe si gɔme nàte ŋu ase nu.

Nukae nye Alport Dɔléle?

Kpuie ko la, Alport ƒe dɔlélea nye domenyiŋusẽfianu ƒe nɔnɔme si me wò ayikuwo mete ŋu wɔa kolagen protein Ƒomevi IV le mɔ si sɔ nu o.

Bu eŋu kpɔ, ``Type IV collagen'' sia nye collagen kɔsɔkɔsɔ etɔ̃ (alpha kɔsɔkɔsɔwo) siwo wotro ɖekae abe ka ene. Woyɔa kɔsɔkɔsɔ siawo be alfa 3, alfa 4, kple alfa 5. Fifia, ne wò ŋutilã mewɔ kɔsɔkɔsɔ siawo dometɔ aɖeke o la, eve mamlɛawo mate ŋu awɔ ɖeka o. Ɣemaɣie Alport ƒe dɔlélea ƒe dzesi sesẽtɔwo kekeake dzena.

Ɣeaɖewoɣi la, kɔsɔkɔsɔ siawo katã dzɔna le wò ŋutilã me, gake ne wo dometɔ ɖeka mewɔ nyuie o la, ɣeaɖewoɣi la, kɔsɔkɔsɔawo mate ŋu aƒo ƒu o, alo ne woƒo ƒu gɔ̃ hã la, womewɔa dɔ nyuie o. Le nɔnɔme siawo me la, woate ŋu aɖe dzesiawo dzi akpɔtɔ vie.

Protein sia, si woyɔna be ``Type IV collagen'', le vevie ŋutɔ na lãkusi siwo le wò ayiku me, ``glomerular basement membranes alo GBM''. ``(GBM)'' siae nye nusi ɖea wò ʋu, si ɖea aɖi kple nu bubu siwo ŋutilã mehiã o la ɖe vovo eye wòkpena ɖe ame ŋu be wòawɔ aɖuɖɔ. Ekpena ɖe ame ŋu hã be nuwo abe ʋumenugbagbeviwo kple protein siwo le ʋua me nanɔ ʋua me tsɔ wu be woayi aɖuɖɔ me.

Fifia, ne `(GBM)` sia mele dɔ wɔm nyuie o la, ʋu alo protein ateŋu ado ɖe wò aɖuɖɔ me. Le ɣeyiɣi aɖe megbe la, wò ayikuwo ƒe ŋutete be woaɖe aɖuɖɔ hã dzi ɖena kpɔtɔna. Esia nana ayiku ƒe dɔmawɔmawɔ nyuie ƒe afɔkua dzina ɖe edzi.

Gake menye ayikuwo koe esia gblẽa nu le o. ``Type IV collagen'' sia hã le wò towo kple ŋkuwo me. Eyata tsɔ kpe ɖe ayiku ƒe kuxiwo ŋu la, nukpɔkpɔ kple tosese hã ate ŋu anɔ amesi ŋu Alport ƒe dɔlélea le ŋu.

Aleke míewɔna nyi esia ƒe dome?

Domenyiŋusẽfianu ƒomevi vevi etɔ̃e li siwo ŋu Alport ƒe dɔlélea le. Na míalé ŋku ɖe nusiwo wonye ŋu.

Alport ƒe dɔléle si do ƒome kple X (XLAS) .

Esia do ƒome kple wò X domenyiŋusẽfianu. X domenyiŋusẽfianu nye wò gbɔdɔdɔ ƒe domenyiŋusẽfianu eve (X kple Y) dometɔ ɖeka. Domenyiŋusẽfianu si wɔa alpha 5 kɔsɔkɔsɔ `(COL4A5)` le eme.

Fifia, kpɔ ɖa, X domenyiŋusẽfianu ɖeka kple Y domenyiŋusẽfianu ɖeka le ŋutsu si. X domenyiŋusẽfianu eve le nyɔnu si. Esi wònye be X domenyiŋusẽfianu ɖeka koe gblẽ le ŋutsuwo si ta la, anɔ eme be dzesi sesẽwo dzena le wo ŋu. Esi wònye be X domenyiŋusẽfianu ɖeka gblẽ eye X domenyiŋusẽfianu ɖeka si le lãmesẽ me le nyɔnuwo si ta la, zi geɖe la, woƒe dzesiwo mesẽna o.

Ŋutsu aɖe tsɔa eƒe Y domenyiŋusẽfianu naa viaŋutsuwo. Eyata womateŋu atsɔ `(XLAS)` ana wo viŋutsuwo o. Gake ŋutsu aɖe tsɔa eƒe X domenyiŋusẽfianu la naa vianyɔnuwo katã. Eyata vianyɔnuwo katã ate ŋu axɔ Alport ƒe dɔlélea.

Nyɔnu tsɔa eƒe X domenyiŋusẽfianu eveawo dometɔ ɖeka naa via, eɖanye ŋutsuvi alo nyɔnuvie ɖevia nye o. Eyata mɔnukpɔkpɔ 50% le esi be wòatsɔ `(XLAS)` ana ɖevi ɖesiaɖe.

Esiae nye Alport ƒe dɔléle ƒomevi si bɔ wu, eye wònye Alport ƒe dɔléle dɔnɔwo katã ƒe 60% va ɖo 80%.

Alport ƒe dɔléle si nye autosomal recessive Alport ƒe dɔléle (ARAS) .

"Autosomal" fia autosomal domenyiŋusẽfianu eve 23 la. "Autosomal recessive" fia domenyinyi ƒe nɔnɔme. Ne autosomal recessive trait le dzila ɖeka ŋu la, womaɖe dzesi aɖeke afia o. Hafi wòatsɔe ayi na wo viwo la, ele be dzila evea siaa natsɔ nɔnɔmea ɖe asi. Gake esi dɔlélea ƒe dzesi aɖeke mele wo ŋu o ta la, womenya gɔ̃ hã be edze yewo o.

Le Alport ƒe dɔlélea me la, domenyiŋusẽfianu siwo ŋlɔa alpha 3 (COL4A3) kple alpha 4 (COL4A4) proteinwo la le domenyiŋusẽfianu 2. "Recessive" fia be domenyiŋusẽfianu eve ƒe domenyiŋusẽfianu eveawo ƒe tɔtrɔwo hiã hafi dɔlélea nadzɔ.

Eyata le `(ARAS)` me la, tɔtrɔ aɖe le domenyiŋusẽfianu siwo ŋlɔa alpha 3 alo alpha 4 protein siwo le domenyiŋusẽfianu 2. `(ARAS)` menɔ te ɖe ŋutsu alo nyɔnu nyenye dzi o, eyata dzesiawo ƒe domenyinyi kple woƒe sesẽme sɔ na amesiame.

Ne `(ARAS)` le ŋuwò la, mɔnukpɔkpɔ 50% le viwòwo si be woatsɔ domenyiŋusẽfianu siawo siwo gblẽ la dometɔ ɖeka ana ame bubuwo. Zi geɖe la, esia mehea Alport ƒe dɔlélea vɛ o. Gake mɔnukpɔkpɔ 25% li be nàtsɔ domenyiŋusẽfianu eve siwo gblẽ la ana viwòwo. Ne edzɔ alea la, `(ARAS)` anɔ viwòa si.

(ARAS) nye Alport ƒe dɔlélea dɔnɔwo ƒe 15% lɔƒo.

Alport ƒe dɔléle si nye autosomal dominant Alport (ADAS) ƒe dɔléle .

"Dominant" fia be dɔléle ateŋu atso domenyiŋusẽfianu ɖeka ko ƒe tɔtrɔ le domenyiŋusẽfianu eve me gbɔ. Le ADAS me la, domenyiŋusẽfianu siwo ŋlɔa protein COL4A3 alo COL4A4 si le domenyiŋusẽfianu 2 lia dzi la dometɔ ɖeka trɔna.

ADAS menɔ te ɖe ŋutsu alo nyɔnu nyenye dzi o, eyata domenyiŋusẽfianu kple dzesiawo ƒe sesẽme sɔ na amesiame.

Ne ADAS le ŋuwò la, mɔnukpɔkpɔ 50% li be domenyiŋusẽfianu sia si gblẽ la na viwòwo eye woaxɔ ADAS.

(ADAS) nye Alport ƒe dɔlélea dɔnɔwo ƒe 25% va ɖo 35%.

Amekawoe esia kpɔa ŋusẽ ɖe? Aleke gbegbe wòbɔe?

Alport ƒe dɔlélea ate ŋu adze ame sia ame dzi. Enye nɔnɔme si ƒe dome wonyi, si fia be dzila ɖeka alo wo ame evea siaa tsɔe na wo vi. Gake le nɔnɔme siwo ade 15% me la, ate ŋu adze egɔme ne domenyiŋusẽfianu si trɔ la mele dzila eveawo siaa si o gɔ̃ hã.

Ðɔktawo susui be Alport ƒe dɔlélea nye dɔléle si mebɔ o.Numekulawo gblɔ be ame siwo mede 200,000 o ye le United States. Le xexea me godoo la, ebɔ ɖe vidzidzi agbagbee 50,000 ɖesiaɖe me lɔƒo. Gake esi numekulawo yi edzi le nu srɔ̃m tso esia ŋu la, wole amesiwo ƒe dzesiwo mesɔ gbɔ o dim. Eyata ɖewohĩ Alport ƒe dɔlélea bɔ wu alesi wonyae fifia.

Aleke Alport ƒe dɔlélea nana ayiku mewɔa dɔ nyuie o?

Ne Alport ƒe dɔléle le ŋuwò la, glomerular basement membranes siwo megblɔ va yi la meɖea tsi nyuie o. Eyata ʋu kple proteinwo dona ɖe aɖuɖɔ me. Menye ema ɖeɖeko o, ke lãmenugbagbevi siwo le lãkusi mawo ƒe akpa eveawo hã mekpɔa kpekpeɖeŋu si sɔ o. Emegbe lãmenugbagbevi mawo doa dziku eye woxɔa dɔ . Lãmenugbagbevi siawo siwo woyɔna be podocytes ye wɔa GBM la. Ne lãmenugbagbevi siwo ƒo xlãe la xɔ dzo la, podocyte siawo dzea agbagba be yewoade collagen ƒomevi IV geɖe wu GBM la me. Ne edzɔ alea la, GBM la ƒoa ke eye womewɔa ɖoɖo ɖe eŋu o. Esiae nana protein sina yia aɖuɖɔ me (proteinuria).

Le ɣeyiɣi aɖe megbe la, ne protein geɖe va to aɖuɖɔa me la, GBM la va ƒoa ke ɖe to, eye abi ƒe lãkusi (fibrosis) ate ŋu adzɔ. Esia wɔe be wò ayikuwo te ŋu bua ŋutete be woakɔ wò ʋu ŋu. Woyɔa esia be ayikudɔléle si nɔa anyi didi (CKD). Ne abi geɖe va le dzidzim ɖe edzi la, ayiku ƒe dɔwɔwɔ va gblẽna ɖe edzi, eye mlɔeba ayikuawo dzudzɔa dɔwɔwɔ (ayiku ƒe dɔmawɔmawɔ nyuie).

Nukawoe nye Alport ƒe dɔlélea ƒe dzesi veviwo?

Dzesiawo ate ŋu ato vovo le ƒomevi si le ŋuwò nu. Dzesi vevitɔwoe nye:

• Ʋu si le aɖuɖɔ me si màte ŋu akpɔ o (microscopic hematuria).
• Protein ƒe anyinɔnɔ le aɖuɖɔ me (proteinuria).
• Ayikudɔ si nɔa anyi didi (CKD) alo ayiku ƒe dɔmawɔmawɔ nyuie.
• Tosese ƒe dɔmawɔmawɔ nyuie.
• Ŋku ƒe kuxiwo.

Alport ƒe dɔlélea ƒe dzesi gbãtɔe nye ʋu ƒe sisi le nusuekpɔmɔ̃ me. Esia fia be wò GBM si gblẽ la le ʋumenugbagbevi dzĩwo hem yi wò aɖuɖɔ me. Esia medzena kple ŋku o, gake nusuekpɔmɔ̃ koe woate ŋu akpɔe le. Ŋutsu siwo ŋu XLAS le kple amesiame si ŋu ARAS le ate ŋu akpɔ ʋumenugbagbeviɣidɔ si wokpɔna tso wo dziɣi. Nyɔnu geɖe siwo ŋu XLAS le la va xɔa ʋumenugbagbeviɣidɔ si wokpɔna le ɣeyiɣi aɖe megbe. Menye amesiame si ŋu ADAS le ye xɔa ʋumenugbagbeviɣidɔ si wokpɔna le nusuekpɔmɔ̃ me o.

Ayikudɔ si nɔa anyi didi (CKD) dzea ame dzi ne ayiku ƒe dɔwɔwɔ te ɖiɖi. Ame geɖe meɖea CKD ƒe dzesiwo fiana o vaseɖe esime womate ŋu awɔ dɔ na woƒe ayiku o.

Ayiku ƒe dɔmawɔmawɔ nyuie ƒe dzesiwo:

• Ʋuʋudedi (edema), vevietɔ le asiwo alo afɔkpodzi ŋu.
• Ðeɖiteameŋu si gbɔ eme.
• Aɖuɖɔtoe kple ʋuʋudedi.
• Lãmetsiwo ƒe ʋuʋu.

Tosese ƒe dɔmawɔmawɔ nyuie bɔ ɖe ŋutsu siwo ŋu XLAS kple ARAS le me wu. Gake ate ŋu adzɔ ɖe amesiame si ŋu Alport ƒe dɔlélea le dzi. Tosese ƒe dɔmawɔmawɔ nyuie dzɔna vivivi. Ame geɖe medea dzesii o vaseɖe esime wòtsi megbe akpa. Esesẽna na ame geɖe be woase gbeɖiɖi sesẽwo, eye ɖewohĩ wo dometɔ aɖewo magate ŋu ase nu kura o mlɔeba. Ðewohĩ ahiã be nàzã tomemɔ̃wo mlɔeba. Le nɔnɔme sesẽwo me la, àte ŋu abu wò to keŋkeŋ gɔ̃ hã (tokunɔnyenye).

Kuxi vovovowo hã le ŋkuwo ŋu. Ame aɖewo ƒe ŋkume ƒe ʋuʋu ate ŋu avuvu, eye wòxɔa ɣeyiɣi didi hafi wohayana. Esia ate ŋu ana ŋku natsi eye wòase veve, gake zi geɖe la, menaa ŋkua megakpɔa nu nyuie o. Kuxiwo nɔa ame aɖewo ŋu le ŋkua ƒe akpa si me kɔ, si nye ŋkumeɖonu, si kpena ɖe ame ŋu be wòakpɔ nu nyuie, eye ate ŋu axɔ ŋku ƒe ʋuʋu mlɔeba.

Ne Alport ƒe dɔlélea le ŋuwò eye nèle tosese alo nukpɔkpɔ ƒe kuxiwo me tom la, yi ɖɔkta gbɔ enumake.

Nukae hea Alport ƒe dɔlélea vɛ?

Kpuie ko la, wò collagen domenyiŋusẽfianu ƒe tɔtrɔ gbɔe esia tsona.

Ðe esia xɔa ame mea?

Ao, Alport ƒe dɔlélea menye dɔléle si xɔa ame me o. Menye ame ɖeka gbɔ yia ame bubu gbɔ to kadodo kplikplikpli me o. Enye nɔnɔme si ƒe dome míenyi.

Aleke nèwɔ de dzesi esia?

Ne ʋumenugbagbeviɣidɔ alo ayikudɔ si nɔa anyi didi le ŋuwò la, ɖɔkta ate ŋu asusui be Alport ƒe dɔlélea le ŋuwò. Ne Alport ƒe dɔlélea le wò ƒomea me la, dodokpɔwo ate ŋu ade dzesii. Ne ame aɖeke mele wò ƒomea me o la, ɖɔkta ate ŋu anɔ te ɖe wò atikewɔwɔ ŋutinya kple dodokpɔ bubu siwo wowɔ dzi anya dɔlélea le ŋuwò.

Ðɔktaa alé ŋku ɖe wò dzesiwo ŋu ahabia wò ƒomea ƒe atikewɔwɔ ŋutinya. Dodokpɔ vovovowo hã ate ŋu akpe ɖe ame ŋu wòanya esia. Dodokpɔ siawo dometɔ aɖewoe nye:

• Aɖuɖɔtoe me dzodzro: Esia doa wò aɖuɖɔ ƒe dzedzeme, eƒe dɔwɔwɔ, kple nusuekpɔmɔ̃ ƒe nɔnɔmewo kpɔna. Ate ŋu ade dzesii ne ʋu alo protein le aɖuɖɔ me.
• Creatinine clearance test alo cystatin C blood test: Dodokpɔ siawo dzidzea creatinine kple cystatin C, si nye gbeɖuɖɔ, ƒe agbɔsɔsɔ le wò ʋu me. Esia ate ŋu aɖe alesi wò ayikuwo le wò ʋu ƒom nyuie la afia.
• Estimated glomerular filtration rate (eGFR): Esia nye asixɔxɔ si ɖɔkta bua akɔnta tso creatinine alo cystatin C. Ebua alesi wò ayikuwo le wò ʋu ŋu kɔm nyuie.
• Ayiku me lãmenugbagbeviwo ɖeɖe: Ðɔkta aɖe tsɔa wò ayiku ƒe lãkusi sue ŋutɔ ʋɛ aɖewo hedoa wo kpɔna le nusuekpɔmɔ̃ me le dodokpɔxɔ me. Kpɔɖeŋu siawo ɖe nɔnɔme vovovo siwo le ŋusẽ kpɔm ɖe wò ayiku dzi la fia. Le Alport ƒe dɔlélea me la, GBM siwo gblẽ la dzena abe ɖe wole tsɛ ene, gake teƒe aɖewo ate ŋu anɔ ƒoƒom hã. Ne dɔlélea nu sẽ la, ate ŋu aɖe abi afia le nusiwo woɖena le lãme na ame kple xɔtunu siwo léa wo ɖe te ŋu.
• Domenyiŋusẽfianu dodokpɔ: Esia ate ŋu ade dzesi tɔtrɔ siwo le wò collagen domenyiŋusẽfianuwo me. Esia abia be woayi domenyiŋusẽfianu ŋuti dɔwɔƒe tɔxɛ aɖe. Ðɔkta awɔ esia to ʋudodokpɔ alo aɖuɖɔtoe me.
• Tosese dodokpɔ (odiogram): Ne ɖɔkta aɖe susu be Alport ƒe dɔlélea le ame ŋu la, woate ŋu aɖe gbe be woado tome dodokpɔ. Ele be woawɔ dodokpɔ sia na amesiame si ŋu Alport ƒe dɔlélea le. Ele be woawɔ dodokpɔ sia ƒe ʋɛ aɖewo ɖesiaɖe be woakpɔe ɖa be tosese dzi le ɖeɖem kpɔtɔ alo le sesẽm ɖe edzi hã.
• Ŋkudodokpɔ: Ele be ŋkudɔdala si bi ɖe ŋkudɔlélewo didi kple wo dada me nawɔ dodokpɔ sia. Woalé ŋku ɖe wò nukpɔkpɔ ŋu eye woalé ŋku ɖe wò ŋku ƒe gota (cornea), ŋkumeɖonu, kple wò ŋku ƒe megbe (retina) ŋu akpɔe ɖa be Alport ƒe dɔlélea gblẽ nu le wò ŋkume ŋu hã. Woate ŋu awɔ nɔnɔmetatawo dodokpɔ si woyɔna be optical coherence tomography (OCT) hã.

Ðe woate ŋu ada Alport ƒe dɔlélea? Nukawoe nye atikewɔmɔnuawo?

Atike aɖeke meli na Alport ƒe dɔlélea o. Numekulawo le dɔ wɔm tso domenyiŋusẽfianu ƒe dɔdamɔnu siwo ɖɔa domenyiŋusẽfianu siwo gblẽ ɖo ŋu, gake womekpɔ dzidzedze haɖe o. Ne woto domenyiŋusẽfianu ƒe dɔdamɔnu si akpɔ dzidzedze vɛ gɔ̃ hã la, axɔ ƒe geɖe hafi wòasu mía si. Gake atikewɔwɔ aɖewo li siwo ate ŋu ana ayiku ƒe dɔwɔwɔ dzi naɖe akpɔtɔ eye wòahe ayiku ƒe dɔmawɔmawɔ nyuie ɖe megbe.

Ðɔkta ate ŋu aŋlɔ nanewo abe:

• Angiotensin-converting enzyme (ACE) inhibitors: Esiawo ɖea wò ʋu ƒe sisi dzi kpɔtɔna, woɖea protein si le wò aɖuɖɔ me dzi kpɔtɔna, eye wòkpena ɖe ŋuwò nèkpɔa wò ayiku ta. Ele be ŋutsu siwo ŋu (XLAS) le kple amesiame si ŋu (ARAS) le nadze ACE inhibitors nono gɔme ne wokpɔ dɔlélea vɔ. Ele be nyɔnu siwo ŋu (XLAS) alo (ADAS) le nadze ACE inhibitors nono gɔme ne wonya dze protein kpɔkpɔ gɔme le woƒe aɖuɖɔ me ko, alo le ɣeyiɣi si me wokpɔ dɔlélea le wo ŋu.
• Angiotensin II receptor blockers (ARBs): ARBs sɔ kple ACE inhibitors eye viɖe ɖeka ma ke le wo ŋu.
• Sodium-glucose transported type 2 (SGLT-2) inhibitors: Ne CKD alo Alport ƒe dɔléle le ŋuwò la, SGLT-2 inhibitors ate ŋu akpe ɖe ŋuwò nàɖe ayiku ƒe dɔmawɔmawɔ nyuie ƒe afɔkua dzi akpɔtɔ. Wò ɖɔkta ate ŋu atsɔ esiawo akpe ɖe wò ACE mɔxenu alo ARB ŋu. Menye SGLT-2 mɔxenuwo katãe woda asi ɖo be woatsɔ ada CKD o. Ðewohĩ wò ɖɔkta mana nusiawo wò ne wò eGFR le sue ŋutɔ.
• Nuɖuɖu si me sodium le: Dze kple sodium ƒe agbɔsɔsɔ si le wò nuɖuɖu me dzi ɖeɖe kpɔtɔ ate ŋu akpe ɖe ŋuwò nàɖe ʋu ƒe sisi dzi akpɔtɔ eye ayiku kple dzi nanɔ lãmesẽ me.

Ðe ayiku dodo na ame ate ŋu ada Alport ƒe dɔlélea?

Ẽ kple ao. Ne wodo ayiku na wò la, àkpɔ ayiku si me ``Type IV collagen'' si sɔ kple filtration membranes le. Eyata Alport ƒe dɔlélea magatrɔ ava ayiku yeyea me o.

Gake ayiku dodo makpe ɖe dzesi bubuwo, abe tosese kple ŋku ƒe kuxiwo ene ŋu o.

Aleke míawɔ axe mɔ ɖe esia nu?

Womate ŋu axe mɔ ɖe Alport ƒe dɔlélea nu o. Ke hã, wò ƒome ŋutinya nyanya ate ŋu akpe ɖe ŋuwò nàde dzesii kaba. Ate ŋu akpe ɖe ŋuwò hã be viwòwo nagatsɔe ana o.

Alport ƒe dɔlélea didi kaba kple atikewɔwɔ gɔme kple ACE inhibitors/ARBs kple SGLT-2 inhibitors nye mɔ nyuitɔ si dzi woato ahe ayiku ƒe dɔmawɔmawɔ nyuie ɖe megbe.

Ne ɖɔkta gblɔ be ʋu le wò aɖuɖɔ me la, anyo be nàgawɔ dodokpɔ bubuwo le Alport ƒe dɔlélea ŋu, vevietɔ ne tosese me kuxiwo le ŋuwò alo ayiku ƒe dɔwɔwɔ dzi ɖe kpɔtɔ.

Ne wò ƒomea me tɔ aɖe ƒe ʋu le aɖuɖɔ me kpɔ (héaturia) la, ele be ɖɔkta nalé ŋku ɖe wò aɖuɖɔ me be ʋu le eme hã eye wòado ʋu kpɔ atsɔ akpɔ wò ayiku ƒe dɔwɔwɔ ɖa.

Aleke nye agbenɔƒe anɔ ne Alport ƒe dɔlélea le ŋunye?

Ŋutsu siwo ŋu `(XLAS)` le kple amesiame si ŋu `(ARAS)` le zi geɖe la, ayiku ƒe dɔmawɔmawɔ nyuie kple tosese ƒe dɔmawɔmawɔ nyuie hafi xɔa ƒe 30.

Zi geɖe la, nyɔnu siwo ŋu XLAS le ƒe agbenɔƒe sɔ. Ðewohĩ ʋumenugbagbeviɣidɔ, proteinuria, CKD, alo ayiku ƒe dɔmawɔmawɔ nyuie kple to ƒe dɔmawɔmawɔ nyuie ate ŋu anɔ ŋuwò. Amesiame ɖoa nya ŋu le mɔ vovovowo nu. Gake nyɔnu 16% akpɔ ayiku ƒe dɔmawɔmawɔ nyuie ne woxɔ ƒe 60, eye 20% hã axɔ ƒe 80.

Ame siwo ŋu `(ADAS)` le ate ŋu akpɔ ŋuɖoɖo vovovowo, eye woate ŋu anɔ agbe si sɔ. Tosese ƒe dɔmawɔmawɔ nyuie kple ayiku ƒe dɔmawɔmawɔ nyuie mebɔ ɖe `(ADAS)` me o.

Zi geɖe la, ayikudɔléle si nɔa anyi didi (CKD) kple ayiku ƒe dɔmawɔmawɔ nyuie nana amesiwo ŋu Alport ƒe dɔlélea le ƒe agbenɔƒe nɔa kpuie. CKD nana dzidɔ kple ʋusɔgbɔdɔ ƒe ku ƒe afɔkua dzina ɖe edzi. Ayiku ƒe dɔmawɔmawɔ nyuie wua ame ne womewɔ ayiku alo ayiku dodo na ame o. Ne wowɔ atike nɛ gɔ̃ hã la, ayiku ƒe dɔmawɔmawɔ nyuie nana dzidɔ, ʋusɔgbɔdɔ, kple dɔlékuiwo ƒe ku ƒe afɔkua dzina ɖe edzi. Le alesi ayiku si wodo na ame wɔa dɔ nyuie nu la, ayiku dodo ate ŋu akpe ɖe ŋuwò nànɔ agbe si sɔ.

Aleke malé be na ɖokuinye?

Ne Alport ƒe dɔlélea le ŋuwò la, ɖɔkta akpe ɖe ŋuwò nàwɔ atikewɔmɔnu nyuitɔ kekeake. Esia ate ŋu alɔ atikewo kple agbenɔnɔ ƒe tɔtrɔ ɖe eme.

Atikewɔwɔ ƒe atikewɔwɔ

• No ACE inhibitors, ARBs, alo SGLT-2 inhibitors abe alesi wò ɖɔkta gblɔe ene.
• Ƒo asa na vevesesenutsitikewo (atike siwo me steroid mele o siwo tsia dɔdzẽ nu - NSAIDs) nono. Esiawo ate ŋu ana ayiku nawɔ dɔ kabakaba ne ayiku ƒe dɔwɔwɔ mesɔ o alo Alport ƒe dɔléle le ŋuwò.
• Kpɔ wò tosese ɖa.Ne wò to me gblẽ vevie eye wò ɖɔkta ɖo aɖaŋu na wò be nàzã tomemɔ̃wo la, anyo be nàzã wo. Ne menye nenema o la, ate ŋu asesẽ na wò be nàɖo dze kple ame bubuwo, si ana nàse le ɖokuiwò me be yetsi akogo eye yeɖe ye ɖokui ɖe aga. Seselelãme siawo be yeɖe ye ɖokui ɖe aga ate ŋu ana ame nalé blanui. Tomemɔ̃wo ate ŋu ana wò kple amesiwo dome nèle dome nanyo ɖe edzi, wò seselelãme nanyo ɖe edzi, eye wòakpe ɖe ŋuwò nàɖu blanuiléle dzi alo axe mɔ ɖe enu.
• Lé be na wò susu ƒe lãmesẽ. Domenyiŋusẽfianu ƒe dɔléle aɖe ƒe amesinɔnɔ ate ŋu ana nàtsi akogo, eye ne ènya be Alport ƒe dɔlélea ate ŋu ana ayiku nawɔ dɔ nyuie alo ana nàse nu nyuie o la, ate ŋu ana blanuiléle ƒe afɔkua nadzi ɖe edzi. Ele vevie be nàƒo nu kple wò ɖɔkta tso susu ƒe lãmesẽkuxi ɖesiaɖe si le fu ɖem na wò ŋu eye nàxɔ atike si nèhiã. Bia wò ɖɔkta nenye be kpekpeɖeŋunahawo li na amesiwo ŋu Alport ƒe dɔlélea le. Ame mawo tɔgbe do go ate ŋu akpe ɖe ŋuwò be màgase le ɖokuiwò me be yetsi akogo o.

Agbenɔnɔ ƒe tɔtrɔ

• Ðe dze si le wò nuɖuɖu me dzi kpɔtɔ.
• Ne CKD le ŋuwò la, ɖewohĩ ahiã be nàwɔ ɖe nuɖuɖu tɔxɛ aɖe dzi. Esia ate ŋu anye be nàɖe lãwo ƒe protein ɖuɖu dzi akpɔtɔ, nàtrɔ ɖe numiemiewo ƒe nuɖuɖu ŋu, nàƒo asa na nuɖuɖu siwo me potassium sɔ gbɔ ɖo ne potassium sɔ gbɔ ɖe wò ʋu me, eye nàɖe protein ɖuɖu dzi akpɔtɔ ne phosphorus alo parathyroid hormone (PTH) sɔ gbɔ ɖe ʋu me.
• Dzitodzito me nɔnɔ ate ŋu akpe ɖe ŋuwò nàɖe dzidɔ, suklidɔ, kple nɔnɔme bubu siwo ate ŋu ana ayiku nawɔ dɔ nyuie la dzi akpɔtɔ. Kamededewo abe azɔlizɔzɔ sesĩe, duƒuƒu, tsiƒuƒu, gasɔdodo, kple ka titri ene nyo. Enyo hã be nàlé kpekpeme nyui si sɔ na wò me ɖe asi.
• Ƒo asa na atamanono kple atamanu bubuwo. Kpɔ ɖɔkta ne èhiã kpekpeɖeŋu be nàdzudzɔ atamanono.

Ɣekaɣie wòle be makpɔ ɖɔkta?

Kpɔ ɖɔkta ne ʋu le wò aɖuɖɔ me, wò tosese, alo wò ŋku megakpɔa nu nyuie o. Esiawo ate ŋu anye Alport ƒe dɔlélea ƒe dzesiwo.

Ne Alport ƒe dɔlélea le ŋuwò la, kpɔ egbɔ be wò ɖɔkta ɖo wò ɖe ayikuŋutinunyala (aɖuŋutinunyala) gbɔ.

Ne Alport ƒe dɔlélea le wò ƒomea me la, yi ɖɔkta gbɔ be wòakpɔe ɖa be wò hã wò dɔlélea le ŋuwò hã.

Nya kawoe wòle be mabia nye ɖɔkta?

Ne èsusu be ɖewohĩ Alport ƒe dɔlélea le ye ŋu, alo ne Alport ƒe dɔlélea le yeƒe ƒomea me la, bia nya siawo wò ɖɔkta:

• Ènya alesi nàwɔ ade dzesi Alport ƒe dɔlélea?
• Àte ŋu aɖom ɖe eŋutinunyala bibi aɖe si nya alesi woawɔ anya Alport ƒe dɔlélea?
• Ðe ʋu le nye aɖuɖɔ mea?
• Ðe nye ayiku ƒe dɔwɔwɔ le to yima?
• Ðe wòle be woado nye tose kpɔ loo alo ado ŋkume kpɔa?
• Ðe wòle be woawɔ ayiku ŋuti numekuku nam?
• Ðe wòle be woado domenyiŋusẽfianu kpɔa?

Ne Alport ƒe dɔlélea le ŋuwò la, bia nya siawo wò ɖɔkta:

• Aleke nèwɔ nya be Alport ƒe dɔlélea le ŋunye?
• Ɣekaɣie woate ŋu aɖom ɖe ayikuŋutinunyala (anyiŋutinunyala) si nya nu tso Alport ƒe dɔlélea ŋu gbɔ?
• Alport ƒe dɔléle ka ƒomevie le ŋunye?
• Ðe matsɔ Alport ƒe dɔlélea ana vinyewoa?
• Nukae nye nye `(GFR)`?
• Protein agbɔsɔsɔme nenie le nye aɖuɖɔ me?
• Ɣekaɣie nèdzea ACE mɔxenu alo ARB zazã gɔme?
• Ðe SGLT-2 mɔxenu aɖe aɖe vi nam?
• Atike bubu kawoe nèkafu?
• Zi nenie wòle be mawɔ ɖoɖo be mava kpɔ nye ayiku ƒe lãmesẽ?
• Zi nenie wòle be woado nye tose kpɔ?
• Ðe wòle be makpɔ ŋkudɔdala aɖe be wòalé ŋku ɖe nye ŋkuwo ŋua?
• Àte ŋu akafu kpekpeɖeŋunahawo na amesiwo ŋu Alport ƒe dɔlélea lea?

Alport ƒe dɔlélea nye dɔléle si gblẽa nu le ʋuka siwo le wò ayiku me ŋu. Dzɔdzɔmeŋusẽ ƒe tɔtrɔ le wò domenyiŋusẽfianu me kpɔa ŋusẽ ɖe alesi wò ayikuwo wɔa dɔe dzi, eye ate ŋu akpɔ ŋusẽ ɖe wò tosese kple nukpɔkpɔ hã dzi.

Àte ŋu ase seselelãme vovovowo ne èva le lɔlɔ̃m ɖe dɔléle sia si wokpɔ kple alesi Alport ƒe dɔlélea kpɔa ŋusẽ ɖe wò agbenɔnɔ dzii dzi. Ele vevie be nàna ɣeyiɣi kple teƒe ɖokuiwò be nàse wò nɔnɔmea kple atikewɔmɔnu siwo nàte ŋu azã gɔme. Tiatia siwo nàte ŋu awɔ kple nusiwo nàkpɔ mɔ na nyanya ate ŋu akpe ɖe ŋuwò nàɖu wò seselelãmewo dzi. Wòe wɔa nyametsotso mamlɛawo le wò lãmesẽ ŋu, eye wò ɖɔkta le afima be yeana nyatakaka kple mɔfiame wò. Ne nya aɖe le asiwò, nèhiã kpekpeɖeŋu, alo nèhiã aɖaŋuɖoɖo la, ƒo nu kpli wo.

Gbedasi vevitɔ kekeake si woatsɔ ayi aƒemee

Togbɔ be Alport ƒe dɔlélea nye domenyiŋusẽfianu ƒe dɔléle sesẽ aɖe si nɔa ame ƒe agbemeŋkekewo katã me hã la, ekpɔkpɔ kaba kple edzikpɔkpɔ nyuie ate ŋu akpe ɖe amewo ŋu woanɔ agbe si sɔ le akpa gãtɔ me.

Ne dzesi siawo le wò ƒomea me (vevietɔ ʋu si le aɖuɖɔ me, tosese), alo ne wò ŋutɔ èkpɔe la, metsi megbe gbeɖe be nàdi atikewɔlawo ƒe aɖaŋuɖoɖo o. Ne èwɔ dodokpɔ kple atike nyuitɔ la, àte ŋu aɖe ayiku ƒe gbegblẽ dzi akpɔtɔ eye nàlé wò agbenɔnɔ ƒe nyonyome me ɖe asi. Ðo ŋku edzi be menye wò ɖeka koe o, eye ɖɔktawo kple wò lɔlɔ̃tɔwo li be yewoakpe ɖe ŋuwò.

` Alport syndrome, ayikudɔ, domenyiŋusẽfianu ƒe dɔlélewo, collagen, ʋu le aɖuɖɔ me, tosese, ŋkudɔ