I-Noonan syndrome enama-lentigines amaningi

I-Noonan syndrome enama-lentigines amaningi (i-NSML) yisifo esingajwayelekile esizuzwe njengefa. Abantu abanalesi simo banezinkinga ngesikhumba, ikhanda nobuso, indlebe yangaphakathi nenhliziyo. Izitho zangasese nazo zingathinteka.

I-Noonan syndrome yaziwa ngaphambili njenge-LEOPARD syndrome.

I-NSLM izuzwe njengefa lesici esivelele se-autosomal. Lokhu kusho ukuthi umuntu udinga kuphela isakhi esingajwayelekile esivela kumzali oyedwa ukuze athole lesi sifo.

Igama langaphambili le-NSML le-LEOPARD limelela izinkinga ezahlukahlukene (izimpawu nezimpawu) zalesi sifo:

• Lentigines - inani elikhulu lokumaka kwesikhumba okufana nsundu noma okumnyama okuthinta kakhulu intamo nesifuba esingenhla kepha kungavela emzimbeni wonke
• Ukukhubazeka kwe-Electrocardiograph - izinkinga ngemisebenzi kagesi nokupompa kwenhliziyo
• Oi-cular hypertelorism - amehlo ahlukaniswe kabanzi
• I-pulmonary valve stenosis- ukuncipha kwe-valve yenhliziyo yamaphaphu, okuholela ekuhambeni kwegazi okuncane emaphashini futhi kubangele ukuphefumula okuncane
• Aukungajwayelekile kwezitho zobulili - njengamasende angafunwanga
• Ri-etardation yokukhula (ukukhula okubambezelekile) - kufaka phakathi izinkinga zokukhula kwamathambo esifubeni nasemgogodleni
• UDi-eafness - ukulahleka kokuzwa kungahluka phakathi kokunene nokubi

I-NSML ifana neNoonan syndrome. Kodwa-ke, uphawu oluyinhloko oluhlukanisa lezi zimo ezimbili ukuthi abantu abane-NSML banama-lentigines.

Umhlinzeki wezokunakekelwa kwempilo uzokwenza ukuhlolwa ngokomzimba futhi alalele inhliziyo nge-stethoscope.

Ukuhlolwa okungenziwa kufaka phakathi:

• I-ECG ne-echocardiogram ukuhlola inhliziyo
• Ukuhlolwa kokuzwa
• I-CT scan yobuchopho
• Ukhakhayi x-ray
• I-EEG ukuhlola ukusebenza kobuchopho
• Ukuhlolwa kwegazi ukuhlola amazinga athile ama-hormone
• Ukususa inani elincane lesikhumba ukuze lihlolwe (isikhumba biopsy)

Izimpawu ziphathwa njengokufanele. Usizo lokuzwa lungadingeka. Ukwelashwa kweHormone kungadingeka ngesikhathi esilindelekile sokuthomba ukudala izinguquko ezijwayelekile zenzeke.

I-Laser, i-cryosurgery (iqhwa), noma ukhilimu wokugcoba kungasiza ukukhanyisa amanye amabala ansundu esikhunjeni.

Lezi zinsizakusebenza zinganikeza imininingwane eminingi nge-LEOPARD syndrome:

• Inhlangano Kazwelonke Yezinkinga Ezingajwayelekile - rarediseases.org/rare-diseases/leopard-syndrome
• Isethenjwa Sasekhaya se-NIH - ghr.nlm.nih.gov/condition/noonan-syndrome-with-multiple-lentigines

Izinkinga ziyahluka futhi zifaka:

• Izithulu
• Ukuthomba okulibazisekile
• Izinkinga zenhliziyo
• Ukungabi nenzalo

Shayela umhlinzeki wakho uma kunezimpawu zalesi sifo.

Shayela i-aphoyintimenti nomhlinzeki wakho uma unomlando womndeni walesi sifo futhi uhlela ukuba nezingane.

Ukwelulekwa ngofuzo kunconyelwa abantu abanomlando womndeni we-NSLM abafuna ukuba nezingane.

Ama-lentigines syndrome amaningi; Isifo se LEOPARD; I-NSML

UJames WD, u-Elston DM, Phatha i-JR, i-Rosenbach MA, i-IM ye-Neuhaus. I-Melanocytic nevi nama-neoplasms. Ku: James WD, Elston DM, Treat JR, Rosenbach MA, Neuhaus IM, eds. Izifo zika-Andrews ’Zesikhumba. Umhlaka 13. IPhiladelphia, PA: Elsevier; 2020: isahluko 30.

UPaller AS, uMancini AJ. Ukuphazamiseka kombala. Ku: Paller AS, Mancini AJ, ama-eds. IHurwitz Clinical Pediatric Dermatology. Umhlaka 5. IPhiladelphia, PA: Elsevier; 2016: isahluko 11.