Matšoao a Noonan a nang le li-lentigine tse ngata

Noonan syndrome e nang le li-lentigine tse ngata (NSML) ke lefu le sa tloaelehang le futsitsoeng. Batho ba nang le boemo bona ba na le mathata ka letlalo, hlooho le sefahleho, tsebe e ka hare le pelo. Litho tsa botona le botšehali le tsona li ka ameha.

Lefu la Noonan le kile la tsejoa e le lefu la LEOPARD.

NSLM e futsitsoe e le tšobotsi e ka sehloohong ea li-autosomal. Sena se bolela hore motho o hloka feela liphatsa tsa lefutso tse sa tloaelehang ho tsoa ho motsoali a le mong molemong oa ho rua lefu lena.

Lebitso la pele la NSML la LEOPARD le emela mathata a fapaneng (matšoao le matšoao) a lefu lena:

• Lentigines - palo e kholo ea 'mala o sootho kapa o motsho o kang matheba a letlalo a amang haholo molala le sefubeng se holimo empa a ka hlaha hohle' meleng
• Electrocardiograph conduction e sa tloaelehang - mathata a mesebetsi ea motlakase le ea ho pompa pelo
• Ocular hypertelorism - mahlo a arohaneng haholo
• Pulmonary valve stenosis- ho fokotsa pelo ea pulmonary valve, e bakang phallo e fokolang ea mali matšoafong le ho baka phefumoloho e khuts'oane
• Aho se ts'oanehe hoa litho tsa botona le botšehali - joalo ka makhooa a sa rateheng
• Retardation ea kholo (kholo e liehang) - ho kenyeletsoa mathata a kholo ea masapo sefubeng le mokokotlong
• Dho phophola - tahlehelo ea kutlo e ka fapana lipakeng tsa bonolo le matla

NSML e tšoana le lefu la Noonan. Leha ho le joalo, letšoao le ka sehloohong le arohanyang maemo ana a mabeli ke hore batho ba nang le NSML ba na le li-lentigine.

Mofani oa tlhokomelo ea bophelo o tla etsa tlhahlobo ea 'mele' me a mamele pelo ka stethoscope.

Liteko tse ka etsoang li kenyelletsa:

• ECG le echocardiogram ho hlahloba pelo
• Teko ea kutlo
• Tlhatlhobo ea CT ea boko
• Lehata x-ray
• EEG ho lekola tšebetso ea boko
• Liteko tsa mali ho lekola maemo a itseng a lihormone
• Ho tlosa letlalo le lenyenyane bakeng sa tlhahlobo (biopsy ea letlalo)

Matšoao a tšoaroa a loketse. Thuso ea kutlo e kanna ea hlokahala. Kalafo ea Hormone e kanna ea hlokahala ka nako e lebelletsoeng ea bohlankana kapa boroetsana ho etsa hore liphetoho tse tloaelehileng li etsahale.

Laser, cryosurgery (ho hatsela), kapa litlolo tse soeufatsang li ka thusa ho bonesa matheba a mang a sootho letlalong.

Lisebelisoa tsena li ka fana ka tlhaiso-leseling e batsi ka lefu la LEOPARD:

• Mokhatlo oa Naha oa Mathata a Rare - rarediseases.org/rare-diseases/leopard-syndrome
• Referense ea Lehae la NIH Genetics - ghr.nlm.nih.gov/condition/noonan-syndrome-with-multiple-lentigines

Mathata a fapana mme a kenyelletsa:

• Ho se utloe litsebeng
• Ho lieha ho kena bonneng kapa bosaling
• Mathata a pelo
• Ho hloka thari

Bitsa mofani oa hau haeba ho na le matšoao a lefu lena.

Bitsa kopano le mofani oa hau haeba u na le nalane ea lelapa ea lefu lena mme u rerile ho ba le bana.

Ho khothaletsoa tlhabollo ea lefutso ho batho ba nang le nalane ea lelapa ea NSLM ba batlang ho ba le bana.

Matšoao a mangata a lentigines; Leopard syndrome; NSML

James WD, Elston DM, Tšoara JR, Rosenbach MA, Neuhaus IM. Melanocytic nevi le li-neoplasms. Ka: James WD, Elston DM, Tšoara JR, Rosenbach MA, Neuhaus IM, eds. Andrews ’Maloetse a Letlalo. 13th ed. Philadelphia, PA: Elsevier; 2020: khaolo ea 30.

Paller AS, Mancini AJ. Mathata a pigmentation. Ka: Paller AS, Mancini AJ, bahlophisi. Dermatology ea Bongaka ea Hurwitz Clinical. La 5th. Philadelphia, PA: Elsevier; 2016: khaolo ea 11.