Ciwon Noonan tare da lentigines masu yawa

Ciwon Noonan tare da lentigines masu yawa (NSML) cuta ce ta gado mai matukar wahala. Mutanen da ke wannan yanayin suna da matsaloli game da fata, kai da fuska, kunnen ciki, da zuciya. Hakanan za'a iya shafar al'aura.

Ciwon Noonan da aka sani da suna LEOPARD syndrome.

NSLM an gada ne azaman ikon mallakar autosomal. Wannan yana nufin mutum yana buƙatar kwayar halittar mahaifa ne kawai daga mahaifi ɗaya don ya gaji cutar.

Tsohon sunan NSML na LEOPARD yana tsaye ga matsaloli daban-daban (alamu da alamomi) na wannan cuta:

• Lma'amala - adadi mai yawa na launin ruwan kasa ko baƙi mai kama da fata wanda ya fi shafar wuya da kirji na sama amma zai iya bayyana ko'ina cikin jiki
• Rashin daidaito na wutan lantarki - matsaloli tare da ayyukan lantarki da na famfo na zuciya
• Yacular hypertelorism - idanun da suke tazara sosai
• Enarfin bugun jini na huhu - matsewar bawul na huhu, wanda ke haifar da ƙarancin jini zuwa huhu da haifar da ƙarancin numfashi
• Arashin al'ada na al'aura - kamar ƙwayoyin cuta waɗanda ba a sa su ba
• Retardation na ci gaban (jinkirta girma) - ciki har da matsalolin ci gaban kashi na kirji da kashin baya
• Drashin kunne - rashin jin magana na iya bambanta tsakanin mara nauyi da mai tsanani

NSML yayi kama da cutar Noonan. Koyaya, babban alamar da ke rarrabe yanayin biyu shine mutane masu NSML suna da lentigines.

Mai ba da sabis na kiwon lafiya zai yi gwajin jiki kuma ya saurari zuciya tare da stethoscope.

Gwajin da za a iya yi sun hada da:

• ECG da echocardiogram don duba zuciya
• Gwajin ji
• CT scan na kwakwalwa
• Kwancen x-ray
• EEG duba aikin kwakwalwa
• Gwajin jini don bincika wasu matakan hormone
• Cire karamin fata don bincike (biopsy na fata)

Ana kula da alamun cutar kamar yadda ya dace. Ana iya buƙatar na'urar sauraro. Yin magani na homon na iya zama dole a lokacin da ake tsammanin balaga don haifar da canje-canje na al'ada.

Laser, cryosurgery (daskarewa), ko man shafawa na mayimaka na iya taimakawa sauƙaƙa wasu daga cikin launuka masu launin fata.

Waɗannan albarkatun na iya samar da ƙarin bayani game da cutar ta LEOPARD:

• Nationalungiyar forasa don Rare Rashin Lafiya - rarediseases.org/rare-diseases/leopard-syndrome
• NIH Tsarin Gida na Gida - ghr.nlm.nih.gov/condition/noonan-syndrome-with-multiple-lentigines

Matsaloli sun bambanta kuma sun haɗa da:

• Kurma
• Balaga da aka jinkirta
• Matsalar zuciya
• Rashin haihuwa

Kira mai ba ku sabis idan akwai alamun wannan cuta.

Kira don alƙawari tare da mai ba ku idan kuna da tarihin iyali na wannan rikicewar kuma kuna shirin samun yara.

Ana ba da shawara game da kwayar halitta don mutanen da ke da tarihin iyali na NSLM waɗanda suke son haihuwar yara.

Magungunan lentigines da yawa; LEOPARD ciwo; NSML

James WD, Elston DM, Kula da JR, Rosenbach MA, Neuhaus IM. Melanocytic nevi da neoplasms. A cikin: James WD, Elston DM, Kula da JR, Rosenbach MA, Neuhaus IM, eds. Cututtukan Andrews na Fata. 13th ed. Philadelphia, PA: Elsevier; 2020: babi na 30.

Paller AS, Mancini AJ. Rashin lafiya na pigmentation. A cikin: Paller AS, Mancini AJ, eds. Hurwitz Clinical Ilimin likitancin yara. 5th ed. Philadelphia, PA: Elsevier; 2016: sura 11.