Matenda a Noonan okhala ndi ma lentigine angapo

Matenda a Noonan omwe ali ndi ma lentigines angapo (NSML) ndi matenda osowa kwambiri obadwa nawo. Anthu omwe ali ndi vutoli amakhala ndi mavuto pakhungu, kumutu ndi nkhope, khutu lamkati, ndi mtima. Ziwalo zoberekera zimathanso kukhudzidwa.

Matenda a Noonan amadziwika kuti LEOPARD.

NSLM idatengera ngati mkhalidwe waukulu wama autosomal. Izi zikutanthauza kuti munthuyo amangofunika jini yosazolowereka kuchokera kwa kholo limodzi kuti adzalandire matendawa.

Dzina lakale la NSML la LEOPARD limaimira mavuto osiyanasiyana (zizindikiritso) za matendawa:

• Lentigines - kuchuluka kwakukulu kwa khungu lofiirira kapena lakuda ngati khungu lomwe limakhudza khosi ndi chifuwa chapamwamba koma limatha kuwonekera thupi lonse
• Zochitika zamagetsi zamagetsi zamagetsi - zovuta zamagetsi zamagetsi ndi kupopera kwamtima
• Ocular hypertelorism - maso omwe amakhala otalikirana
• Pulmonary valve stenosis- kuchepa kwa valavu yamtima yam'mapapo, zomwe zimapangitsa kuchepa kwamagazi m'mapapu ndikupangitsa kupuma pang'ono
• Azovuta zamaliseche - monga machende osakondedwa
• RKukula kwa kukula (kuchedwa kukula) - kuphatikiza mavuto akuthwa kwa chifuwa ndi msana
• Deafness - kutaya kwakumva kumatha kusiyanasiyana pakati pofatsa komanso mwamphamvu

NSML ndi yofanana ndi matenda a Noonan. Komabe, chizindikiro chachikulu chomwe chimafotokoza izi ndikuti anthu omwe ali ndi NSML ali ndi mphodza.

Wothandizira zaumoyo adzayesa thupi ndikumvetsera mtima ndi stethoscope.

Mayeso omwe angachitike ndi awa:

• ECG ndi echocardiogram kuti muwone mtima
• Kuyesedwa kwakumva
• Kujambula kwa CT kwa ubongo
• X-ray ya chigaza
• EEG kuti aone momwe ubongo umagwirira ntchito
• Kuyezetsa magazi kuti muwone kuchuluka kwa mahomoni
• Kuchotsa khungu lochepa kuti liyesedwe (biopsy khungu)

Zizindikiro zimagwiritsidwa ntchito moyenera. Thandizo lakumva lingafunikire. Chithandizo cha mahomoni chitha kukhala chofunikira panthawi yomwe munthu akutha msinkhu kuti izi zitheke.

Laser, cryosurgery (kuzizira), kapena mafuta opaka utoto angathandize kuwalitsa mawanga akhungu pakhungu.

Izi zitha kukupatsirani zambiri pa matenda a LEOPARD:

• National Organisation for Rare Disways - rarediseases.org/rare-diseases/leopard-syndrome
• Buku Lofotokozera la NIH Genetics - ghr.nlm.nih.gov/condition/noonan-syndrome-with-multiple-lentigines

Zovuta zimasiyanasiyana ndikuphatikiza:

• Kugontha
• Kuchedwa kutha msinkhu
• Mavuto amtima
• Kusabereka

Itanani omwe akukuthandizani ngati pali zizindikiro za matendawa.

Itanani nthawi yoti mudzakumane ndi omwe amakupatsani ngati muli ndi mbiri yabanja yokhudzana ndi vutoli ndikukonzekera kukhala ndi ana.

Upangiri wamtunduwu umalimbikitsidwa kwa anthu omwe ali ndi mbiri ya banja la NSLM omwe akufuna kukhala ndi ana.

Matenda angapo a lentigines; Matenda a LEOPARD; NSNL

James WD, Elston DM, Chitani JR, Rosenbach MA, Neuhaus IM. Melanocytic nevi ndi zotupa m'mimba. Mu: James WD, Elston DM, Tsatirani JR, Rosenbach MA, Neuhaus IM, eds. Matenda a Andrews a Khungu. Wolemba 13. Philadelphia, PA: Elsevier; 2020: chap 30.

Paller AS, Mancini AJ. Matenda a pigmentation. Mu: Paller AS, Mancini AJ, eds. Matenda Ovulaza Achipatala a Hurwitz. 5th ed. Philadelphia, PA: Elsevier; 2016: chap 11.