Isifo seNoonan esinee-lentigines ezininzi

I-Noonan syndrome ene-lentigines ezininzi (i-NSML) sisifo esinqabileyo esifa njengelifa. Abantu abanale meko baneengxaki zolusu, intloko nobuso, indlebe yangaphakathi kunye nentliziyo. Amalungu esini nawo anokuchaphazeleka.

Isifo seNoonan sasisaziwa njenge-LEOPARD syndrome.

I-NSLM izuzwe njengelona phawu lubalaseleyo lwe-autosomal. Oku kuthetha ukuba umntu ufuna kuphela uhlobo olungaqhelekanga lomzali omnye ukuze asizuze njengelifa esi sifo.

Igama langaphambili le-NSML ye-LEOPARD limela iingxaki ezahlukeneyo (iimpawu kunye neempawu) zesi sifo:

• U-Lentigines-inani elikhulu elimnyama okanye elimnyama njengamabala esikhumba achaphazela ikakhulu intamo kunye nesifuba esingaphezulu kodwa anokuvela emzimbeni wonke
• Ukuqhutywa gwenxa kwe-Electrocardiograph - iingxaki kwimisebenzi yombane kunye nokupompa kwentliziyo
• Oi-cular hypertelorism - amehlo ahlukaniswe ngokubanzi
• I-pulmonary valve stenosis- ukunciphisa kwe-valve yentliziyo, okubangela ukuhamba kwegazi okuncinci ukuya emiphungeni kunye nokubangela ukuphefumla okufutshane
• Aukungahambi kakuhle kwamalungu esini - njengamatyhalarha angafunwanga
• RUkukhula kokukhula (ukukhula okulibazisekileyo) -kubandakanya iingxaki zokukhula kwethambo zesifuba kunye nomqolo
• DUkuphulukana nokuva kungohluka phakathi kobulali nobunzima

I-NSML iyafana neNoonan syndrome. Nangona kunjalo, uphawu oluphambili oluchaza ezi meko zimbini kukuba abantu abane-NSML banee-lentigines.

Umboneleli wezempilo uya kwenza uvavanyo lomzimba kwaye amamele intliziyo ngestethoscope.

Uvavanyo olunokwenziwa lunokubandakanya:

• ECG kunye ne-echocardiogram ukukhangela intliziyo
• Uvavanyo lokuva
• Ukuvavanywa kwe-CT kwengqondo
• Ukhakhayi x-reyi
• I-EEG yokujonga ukusebenza kwengqondo
• Uvavanyo lwegazi ukujonga amanqanaba athile ehomoni
• Ukususa isixa esincinci solusu kuvavanyo (ulusu biopsy)

Iimpawu ziphathwa ngokufanelekileyo. Uncedo lokuva kungafuneka. Unyango lweHormone lunokuba yimfuneko ngexesha elilindelekileyo lokufikisa ukwenza ukuba utshintsho oluqhelekileyo lwenzeke.

I-Laser, i-cryosurgery (iqhwa), okanye i-bleaching creams inokunceda ukukhanyisa amanye amabala amdaka eluswini.

Ezi zixhobo zinokubonelela ngolwazi oluthe kratya kwi-LEOPARD syndrome:

• Umbutho weSizwe weengxaki zoRare- rarediseases.org/rare-diseases/leopard-syndrome
• Isalathiso seKhaya le-NIH yemfuzo- ghr.nlm.nih.gov/condition/noonan-syndrome-with-multiple-lentigines

Iingxaki ziyahluka kwaye zibandakanya:

• Izithulu
• Ukulibaziseka kokufikisa
• Iingxaki zentliziyo
• Ukungachumi

Fowunela umnikezeli wakho ukuba kukho iimpawu zesi sifo.

Biza ixesha lokubonana nomboneleli wakho ukuba unembali yosapho kwesi sifo kwaye ucwangcise ukuba nabantwana.

Ukucebisa ngemfuza kuyacetyiswa kubantu abanembali yosapho ye-NSLM abafuna ukuba nabantwana.

Iimpawu ezininzi zeelentigines syndrome; Isifo se LEOPARD; I-NSML

UJames WD, u-Elston DM, nyanga i-JR, i-Rosenbach MA, i-IM ye-Neuhaus. I-Melanocytic nevi kunye neoplasms. Ku: James WD, Elston DM, Phatha uJR, Rosenbach MA, Neuhaus IM, ii-eds. Izifo zikaAndrews zolusu. Umhla we-13. IPhiladelphia, PA: Elsevier; 2020: isahluko 30.

Paller AS, Mancini AJ. Ukuphazamiseka kombala. Ku: Paller AS, Mancini AJ, ii-eds. Iklinikhi yezeMpilo yeDermatology yabantwana. Umhla we-5. IPhiladelphia, PA: Elsevier; 2016: isahluko 11.