Noonan syndrome nrog ntau lub lentigines

Noonan syndrome nrog ntau lub lentigines (NSML) yog ib qho kev mob uas muaj tsawg tshaj plaws. Cov neeg muaj tus mob no muaj teeb meem ntawm cov tawv nqaij, taub hau thiab ntsej muag, sab hauv pob ntseg, thiab lub siab. Tus caj ces kuj tseem cuam tshuam tau.

Noonan syndrome yav tas los hu ua LEOPARD syndrome.

NSLM yog pub raws kev muaj dhau los ntawm autosomal kev coj tus yam ntxwv. Qhov no txhais tau hais tias tus neeg tsuas xav tau lub cev txawv txav ntawm ib tus niam txiv txhawm rau txhawm rau txuas tus kabmob.

Lub npe qub ntawm NSML ntawm LEOPARD sawv rau cov teeb meem sib txawv (cov cim thiab cov tsos mob) ntawm cov teeb meem no:

• Lentigines - ntau ntawm cov xim av los yog xim dub freckle-zoo li daim tawv nqaij uas feem ntau cuam tshuam rau caj dab thiab hauv siab tab sis tuaj yeem tshwm thoob plaws lub cev
• Electrocardiograph conduction txawv txav - teeb meem ntawm hluav taws xob thiab tswj lub luag haujlwm ntawm lub siab
• Ocular hypertelorism - ob lub qhov muag uas sib nrug dav
• Lub ntsws pulmonary valve stenosis r txoj kev sib hloov ntawm lub plawv ntsws lub ntsws, ua rau cov ntshav ntws tsawg mus rau lub ntsws thiab ua rau ua pa luv.
• Akev txawv txav ntawm lub cev - xws li cov noob qes uas tsis tau npaj tseg
• Retardation ntawm kev loj hlob (ncua kev loj hlob) - suav nrog cov teeb meem pob txha loj ntawm lub hauv siab thiab lub nraub qaum
• Deafness - hnov ​​lus yuav txawv ntawm mob me thiab loj

NSML yog zoo li Noonan syndrome. Txawm li cas los xij, cov tsos mob tseem ceeb uas qhia sib nrug rau ob qho xwm txheej yog tias cov neeg uas muaj NSML muaj lentigines.

Tus kws saib xyuas kev noj qab haus huv yuav ua ib qho kev kuaj mob lub cev thiab mloog lub plawv nrog lub ntsej muag tsom.

Kev ntsuam xyuas uas yuav ua tau muaj xws li:

• ECG thiab echocardiogram los kuaj xyuas lub plawv
• Hnov cov lus ntsuas
• CT scan ntawm lub paj hlwb
• Pob txha taub hau xoo hluav taws xob
• EEG txhawm rau tshawb xyuas lub hlwb kev ua haujlwm
• Kev kuaj ntshav los kuaj qee qib theem
• Tshem me me ntawm daim tawv nqaij rau kev kuaj (daim tawv nqaij txiav)

Cov tsos mob raug kho raws li qhov tsim nyog. Xav tau ib lub pob ntseg Kev siv tshuaj kho tus pojniam yuav yog qhov tsim nyog thaum lub sijhawm tseem yuav tiav nkauj tiav nraug kom muaj kev pauv hloov qub.

Laser, cryosurgery (ua kom khov), lossis pleev tshuaj dawb tuaj yeem pab qee qhov tsaus xim rau ntawm daim tawv nqaij.

Cov peev txheej no tuaj yeem muab cov ntaub ntawv ntau ntxiv rau LEOPARD syndrome:

• Lub Koom Haum Tebchaws rau Cov Kab Mob Tsis Txaus - rarediseases.org/rare-diseases/leopard-syndrome
• NIH Genetics Hauv Tsev Hais Txog - ghr.nlm.nih.gov/condition/ afternoonan-syndrome-with-multiple-lentigines

Teeb meem sib txawv thiab muaj xws li:

• Cov lag ntseg
• Ncua kev nkauj nraug
• Lub plawv muaj teeb meem
• Ntxiv lawm tshob

Hu rau koj tus kws kho mob yog tias muaj cov tsos mob ntawm qhov tsis zoo no.

Hu teem sijhawm nrog koj tus kws khomob yog tias koj muaj keeb kwm tsev neeg ntawm qhov tsis zoo no thiab npaj kom muaj menyuam.

Kev qhuab ntuas caj ces raug pom zoo rau cov neeg uas muaj keeb kwm tsev neeg ntawm NSLM uas xav muaj menyuam.

Ntau tus lentigines syndrome; LEOPARD syndrome; NSML

James WD, Elston DM, Kho JR, Rosenbach MA, Neuhaus IM. Melanocytic nevi thiab neoplasms. Hauv: James WD, Elston DM, Kho JR, Rosenbach MA, Neuhaus IM, eds. Andrews 'Cov Kab Mob Ntawm Cov TawvCov. 13th ed. Philadelphia, PA: Elsevier; 2020: chap 30.

Paller AS, Mancini AJ. Kev cuam tshuam ntawm pigmentation. Hauv: Paller AS, Mancini AJ, eds. Hurwitz Tshuaj Pab Rau Cov Neeg Mob Lub CevCov. Thib 5 ed. Philadelphia, PA: Elsevier; 2016: chap 11.