Matenda a Russell-Silver

Russell-Silver syndrome (RSS) ndi vuto lomwe limakhalapo pobadwa lomwe limakulitsa kukula. Mbali imodzi ya thupi imawonekeranso kuti ndi yayikulu kuposa inayo.

M'modzi mwa ana khumi omwe ali ndi vutoli ali ndi vuto lokhudza chromosome 7. Mwa anthu ena omwe ali ndi vutoli, limatha kukhudza chromosome 11.

Nthawi zambiri, zimachitika kwa anthu omwe alibe banja la matendawa.

Chiwerengero cha anthu omwe amadwala matendawa amasiyana kwambiri. Amuna ndi akazi amakhudzidwa mofananamo.

Zizindikiro zimatha kuphatikiza:

• Ma Birthmarks omwe ndi mtundu wa khofi wokhala ndi mkaka (cafe-au-lait marks)
• Mutu wawukulu kukula kwa thupi, pamphumi lonse wokhala ndi nkhope yaying'ono yopanda makona atatu ndi chibwano chaching'ono
  
• Kupindika kwa pinky kumiyala yamphongo
• Kulephera kukula bwino, kuphatikiza kuchedwa zaka za mafupa
• Kulemera kochepa kubadwa
• Kutalika kwakanthawi, mikono yayifupi, zala ndi zala zakuthwa
• Mavuto am'mimba ndi matumbo monga acid reflux ndi kudzimbidwa

Vutoli limadziwika kuti adakali mwana. Wothandizira zaumoyo adzayesa.

Palibe mayesero apadera a labotale kuti apeze RSS. Kuzindikira nthawi zambiri kumadalira kuweruza kwa omwe amapereka kwa mwana wanu. Komabe, mayesero otsatirawa akhoza kuchitika:

• Shuga wamagazi (ana ena atha kukhala ndi shuga wotsika magazi)
• Kuyesedwa kwa mafupa (zaka za mafupa nthawi zambiri zimakhala zazing'ono kuposa zaka zenizeni za mwanayo)
• Kuyezetsa magazi (kumatha kuzindikira vuto la chromosomal)
• Hormone yokula (ana ena atha kukhala ndi vuto)
• Kafukufuku wamagulu (kuti athetse zina zomwe zingafanane ndi RSS)

Kukula kwa mahomoni okula m'malo kumatha kuthandizira ngati hormone iyi ikusowa. Mankhwala ena ndi awa:

• Kuonetsetsa kuti munthuyo amapeza zopatsa mphamvu zokwanira zoteteza shuga wotsika magazi ndikulimbikitsa kukula
• Thandizo lakuthupi kuti muchepetse kamvekedwe ka minofu
• Thandizo pamaphunziro kuthana ndi zovuta za kuphunzira komanso mavuto omwe mwana angakhale nawo

Akatswiri ambiri atha kutenga nawo mbali pochiza munthu amene ali ndi vutoli. Zikuphatikizapo:

• Dokotala wodziwa za majini kuti athandizire kupeza RSS
• Gastroenterologist kapena katswiri wazakudya kuti athandizire kupanga zakudya zoyenera kuti zikule
• Katswiri wazamaphunziro kuti apereke kukula kwa mahomoni
• Katswiri wopanga ma genetic ndi zama psychology

Ana okalamba komanso achikulire samawonetsa mawonekedwe omveka bwino monga makanda kapena ana aang'ono. Luntha limatha kukhala labwinobwino, ngakhale munthuyo atha kukhala ndi vuto la kuphunzira.Zolephera zakubadwa za thirakiti zitha kukhalapo.

Anthu omwe ali ndi RSS atha kukhala ndi mavuto awa:

• Kutafuna kapena kulankhula movutikira ngati nsagwada ndizochepa
• Kulephera kuphunzira

Itanani woyang'anira mwana wanu ngati zizindikiro za RSS zikukula. Onetsetsani kuti kutalika ndi kulemera kwa mwana wanu kumayesedwa paulendo uliwonse woyendera ana abwino. Woperekayo akhoza kukutumizirani ku:

• Katswiri wa majini kuti awunikire kwathunthu ndi maphunziro a chromosome
• Katswiri wamaphunziro azachipatala wothandizira ana pamavuto amakulidwe a mwana wanu

Matenda a Silver-Russell; Matenda a Silver; RSS; Matenda a Russell-Silver

Haldeman-Englert CR, Saitta SC, Zackai EH. Matenda a Chromosome. Mu: Gleason CA, Juul SE, olemba. Matenda a Avery a Mwana Wongobadwa kumene. 10th ed. Philadelphia, PA: Elsevier; 2018: mutu 20.

Wakeling EL, Brioude F, Lokulo-Sodipe O, et al. Kuzindikira ndikuwongolera matenda a Silver-Russell: chiganizo choyamba chamgwirizano wapadziko lonse lapansi. Nat Rev Endocrinol. 2017; 13 (2): 105-124. PMID: 27585961 adatulutsidwa.ncbi.nlm.nih.gov/27585961/.