Cutar Loeys-Dietz

Wadatacce

• Iri
• Wadanne yankuna ne na cututtukan Loeys-Dietz ya shafa?
• Tsammani na rayuwa da hangen nesa
• Kwayar cututtukan Loeys-Dietz
• Matsalolin zuciya da na jijiyoyin jini
• Siffofin fuskoki daban
• Alamar tsarin kwarangwal
• Alamomin fata
• Matsalar idanu
• Sauran bayyanar cututtuka
• Me ke kawo cutar Loeys-Dietz?
• Loeys-Dietz ciwo da ciki
• Yaya ake kula da cututtukan Loeys-Dietz?
• Awauki

Bayani

Ciwon Loeys-Dietz cuta ce ta kwayar halitta da ke shafar kayan haɗin kai. Kayan haɗin kai yana da mahimmanci don samar da ƙarfi da sassauci ga ƙasusuwa, jijiyoyi, tsokoki, da jijiyoyin jini.

Loeys-Dietz ciwo aka fara bayyana a cikin 2005.Siffofin sa sunyi kama da cutar Marfan da Ehlers-Danlos syndrome, amma cutar Loeys-Dietz tana faruwa ne ta hanyar maye gurbi daban-daban. Rikice-rikice na kayan haɗin kai na iya shafar dukkan jiki, haɗe da tsarin ƙashi, fata, zuciya, idanu, da garkuwar jiki.

Mutanen da ke fama da cutar Loeys-Dietz suna da siffofi na fuskoki na musamman, kamar idanuwa masu nisa, buɗewa a cikin rufin a baki (ƙusushin fuska), da idanun da ba sa nuna hanya guda (strabismus) - amma ba mutane biyu tare da cuta iri ɗaya ne.

Iri

Akwai nau'ikan cututtukan Loeys-Dietz guda biyar, waɗanda aka laƙaba I ta hanyar V. Nau'in ya dogara da irin maye gurbi da ke da alhakin haifar da cutar:

• Rubuta I yana faruwa ne ta hanyar sauya yanayin haɓaka mai karɓar beta 1 (TGFBR1) maye gurbi
• Nau'in II yana faruwa ne ta hanyar sauya yanayin haɓaka mai karɓar beta 2 (TGFBR2) maye gurbi
• Nau'in III uwaye ne ke haifar da su da lalata homolog 3 (SMAD) maye gurbi
• Nau'in IV yana faruwa ne ta hanyar sauya yanayin girma beta 2 ligand (TGFB2) maye gurbi
• Rubuta V yana faruwa ne ta hanyar sauya yanayin girma beta 3 ligand (TGFB3) maye gurbi

Tun da Loeys-Dietz har yanzu sabon yanayin cuta ne, masana kimiyya har yanzu suna koyo game da bambance-bambance a cikin sifofin asibiti tsakanin nau'ikan biyar.

Wadanne yankuna ne na cututtukan Loeys-Dietz ya shafa?

A matsayin cuta ta kayan haɗi, cututtukan Loeys-Dietz na iya shafar kusan kowane sashin jiki. Wadannan wurare sune wuraren da aka fi damuwa da mutanen da ke da wannan matsalar:

• zuciya
• magudanar jini, musamman aorta
• idanu
• fuska
• tsarin kwarangwal, gami da kwanyar kai da kashin baya
• gidajen abinci
• fata
• garkuwar jiki
• tsarin narkewa
• gabobin ciki, kamar su baƙin ciki, mahaifa, da hanji

Loeys-Dietz ciwo ya bambanta daga mutum zuwa mutum. Don haka ba kowane mutum mai cutar Loeys-Dietz ke da alamun bayyanar cututtuka a duk waɗannan sassan jikin ba.

Tsammani na rayuwa da hangen nesa

Saboda rikice-rikicen rayuwa da yawa da suka shafi zuciyar mutum, kwarangwal, da garkuwar jiki, mutanen da ke fama da cutar Loeys-Dietz suna cikin haɗarin samun gajeren rayuwa. Koyaya, ana samun ci gaba a fannin kiwon lafiya koyaushe don taimakawa rage rikice-rikice ga waɗanda cutar ta shafa.

Kamar yadda ba a daɗe da gane cutar ba, yana da wuya a kimanta ainihin ran rai ga wanda ke da cutar Loeys-Dietz. Lokuta da yawa, kawai mawuyacin yanayi na sabon ciwo zai zo ga likita. Wadannan shari'o'in ba sa nuna nasarar da ake samu a halin yanzu a magani. A zamanin yau, yana yiwuwa ga mutanen da ke zaune tare da Loeys-Dietz su yi rayuwa mai tsayi, cikakke.

Kwayar cututtukan Loeys-Dietz

Kwayar cututtukan Loeys-Dietz na iya tashi kowane lokaci yayin ƙuruciya har zuwa girma. Tsananin ya bambanta sosai daga mutum zuwa mutum.

Wadannan su ne mafi alamun alamun cututtukan Loeys-Dietz. Koyaya, yana da mahimmanci a lura cewa waɗannan alamun ba a kiyaye su cikin dukkan mutane kuma koyaushe suna haifar da cikakken ganewar cutar:

Matsalolin zuciya da na jijiyoyin jini

• fadada aorta (jijiyoyin da ke sadar da jini daga zuciya zuwa sauran jiki)
• sigar jini, kumburi a bangon jijiyoyin jini
• rarrabawar aortic, yagewar layuka kwatsam a bangon aorta
• azabtarwar jijiyoyin jiki, karkatarwa ko juyawar jijiyoyi
• sauran cututtukan zuciya na haihuwa

Siffofin fuskoki daban

• hypertelorism, idanun sararin samaniya
• bifid (tsaguwa) ko uvula mai fadi (karamin guntun naman da ya rataya a bayan bakinsa)
• kashin kunci mai fadi
• kadan ƙasa slant ga idanu
• craniosynostosis, saurin haɗuwa da kasusuwa
• dutsen daddawa, rami a rufin bakin
• blue sclerae, shuɗin shuɗi ga fararen idanu
• micrognathia, karamin chin
• retrognathia, komawar baya

Alamar tsarin kwarangwal

• yatsun hannu da yatsu
• yatsun hannu
• kwancen kafa
• scoliosis, karkatar da kashin baya
• rashin lafiyar mahaifa-kashin baya
• haɗin laxity
• pectus excavatum (kirji mai narkewa) ko pectus carinatum (kirji mai fitowa)
• osteoarthritis, haɗin kumburi
• pes planus, lebur ƙafa

Alamomin fata

• fata mai haske
• fata mai laushi ko fata
• sauki rauni
• sauki jini
• eczema
• tabon al'ada

Matsalar idanu

• myopia, hangen nesa
• cututtukan tsoka
• strabismus, idanuwan da basa nuna hanya guda
• retinal detachment

Sauran bayyanar cututtuka

• abinci ko rashin lafiyar muhalli
• cututtukan ciki na hanji
• asma

Me ke kawo cutar Loeys-Dietz?

Ciwon Loeys-Dietz cuta ce ta kwayar halitta wanda ya samo asali daga canjin kwayar halitta (kuskure) a cikin ɗayan kwayoyin guda biyar. Wadannan kwayoyin guda biyar suna da alhakin yin masu karba da sauran kwayoyin a cikin hanyar canza yanayin factor-beta (TGF-beta). Wannan hanyar tana da mahimmanci a cikin haɓakar da ta dace da haɓakar kayan haɗin jikin. Wadannan kwayoyin sune:

• TGFBR1
• TGFBR2
• SMAD-3
• TGFBR2
• TGFBR3

Rikicin yana da yanayin girman gado na gado. Wannan yana nufin cewa kwafin kwayar halitta mai maye gurbin daya isa ya haifar da cutar. Idan kana da cutar Loeys-Dietz, akwai damar kashi 50 cikin ɗari cewa ɗanka ma zai kamu da cutar. Koyaya, kimanin kashi 75 cikin ɗari na shari'ar Loeys-Dietz na faruwa a cikin mutanen da ba su da tarihin iyali na cutar. Madadin haka, lahani daga kwayoyin yana faruwa kwatsam a cikin mahaifa.

Loeys-Dietz ciwo da ciki

Ga matan da ke da cutar Loeys-Dietz, ana ba da shawarar yin nazarin haɗarinku tare da mai ba da shawara kan ƙwayoyin halitta kafin yin ciki. Akwai zaɓuɓɓukan gwaji da aka yi yayin cikin ciki don tantance ko ɗan tayi zai sami matsalar.

Mace mai cutar Loeys-Dietz ita ma za ta sami babban haɗarin rarrabawar mahaifa da ɓarkewar mahaifa yayin da take da ciki da kuma bayan haihuwa. Wannan saboda daukar ciki na sanya damuwa a zuciya da jijiyoyin jini.

Mata masu fama da cutar rashin ruwa ko lahani na zuciya yakamata su tattauna haɗarin tare da likita ko likitan mata kafin suyi la'akari da juna biyu. Za a dauki cikinku a matsayin “babban haɗari” kuma wataƙila yana buƙatar kulawa ta musamman. Wasu magungunan da aka yi amfani da su a maganin Loeys-Dietz syndrome suma bai kamata a yi amfani da su a lokacin daukar ciki ba saboda haɗarin haihuwar haihuwa da asarar ɗan tayi.

Yaya ake kula da cututtukan Loeys-Dietz?

A baya, mutane da yawa da ke fama da cutar Loeys-Dietz an yi kuskuren bincikar su tare da cutar Marfan. Yanzu an san cewa cutar Loeys-Dietz ta samo asali ne daga maye gurbi daban-daban kuma ana buƙatar gudanar da shi daban. Yana da mahimmanci a sadu da likita wanda ya saba da cuta don ƙayyade shirin magani.

Babu magani ga cutar, don haka magani yana nufin hanawa da magance alamun. Saboda tsananin haɗarin fashewa, ya kamata a bi wani da wannan yanayin a hankali don kula da samuwar jijiyoyin jiki da sauran rikice-rikice. Kulawa na iya haɗawa da:

• shirye-shiryen shekara-shekara ko na shekara-shekara
• ilimin lissafi na shekara-shekara ƙididdigar angiography (CTA) ko haɓakar haɓakar maganadisu (MRA)
• kwakwalwan mahaifa

Dogaro da alamunku, wasu jiyya da matakan kariya na iya haɗawa da:

• magunguna don rage damuwa akan manyan jijiyoyin jiki ta hanyar rage bugun zuciya da hawan jini, kamar su angiotensin receptor blockers ko beta-blockers
• tiyatar jijiyoyin jini kamar maye gurbin tushen jijiyoyin jiki da gyaran jijiyoyin jiki don hanyoyin sake motsa jiki
• motsa jiki ƙuntatawa, kamar guje wa wasannin gasa, tuntuɓar wasannin motsa jiki, motsa jiki don gajiyarwa, da motsa jiki waɗanda ke murƙushe tsokoki, kamar turawa, buguwa, da zama
• Ayyukan zuciya da jijiyoyin jini kamar yin yawo, keke, tsere, da iyo
• tiyata ko gyaran kafa don ciwon sikila, nakasar kafa, ko kwangila
• magungunan rashin lafiyan da kuma yin shawarwari tare da likitan alerji
• gyaran jiki don magance rashin lafiyar mahaifa
• yin shawarwari tare da masaniyar abinci mai gina jiki don matsalolin ciki

Awauki

Babu mutane biyu da ke da cutar Loeys-Dietz da za su sami halaye iri ɗaya. Idan kai ko likitanka sun yi zargin kuna da cutar Loeys-Dietz, ana ba da shawarar ku haɗu da masanin kwayar halitta wanda ya saba da rikicewar nama. Saboda kawai an gano ciwon ne a 2005, likitoci da yawa ba su san da shi ba. Idan aka sami maye gurbi, ana ba da shawara don a gwada membobin iyali na maye gurbi iri ɗaya.

Yayinda masana kimiyya ke koyo game da rashin lafiyar, ana tsammanin cewa binciken da aka gano a baya zai iya inganta sakamakon likita kuma ya haifar da sabbin hanyoyin maganin.