Isifo sikaRussell-Silver

I-Russell-Silver syndrome (i-RSS) sisifo esikhoyo ekuzalweni kubandakanya ukukhula okungalunganga. Elinye icala lomzimba linokubonakala likhulu kunelinye.

Omnye kubantwana abali-10 abane-syndrome banengxaki ebandakanya i-chromosome 7. Kwabanye abantu abane-syndrome, inokuchaphazela i-chromosome 11.

Uninzi lwexesha, lwenzeka kubantu abangenayo imbali yosapho yesi sifo.

Inani eliqikelelweyo labantu abaphuhlisa le meko lahluka kakhulu. Amadoda nabasetyhini bachaphazeleka ngokulinganayo.

Iimpawu zingabandakanya:

• Iimpawu zokuzalwa ezinombala wekofu kunye nobisi (cafe-au-lait marks)
• Intloko enkulu ngobukhulu bomzimba, ibunzi elibanzi elinobuso obunxantathu obunxantathu kunye nesilevu esincinci, esincinci
  
• Ukujika kwe pinky ukuya kumnwe womsesane
• Ukusilela ukukhula, kubandakanya ukulibaziseka kwamathambo
• Ubunzima bokuzalwa obuphantsi
• Ukuphakama okufutshane, iingalo ezimfutshane, iminwe eneenkani kunye neenzwane
• Iingxaki zesisu kunye namathumbu ezifana ne-acid reflux kunye nokuqunjelwa

Imeko ihlala ichongwa kukukhula kobuntwana. Umboneleli wezempilo uya kwenza uvavanyo lomzimba.

Akukho zilingo zelebhu ezithile zokufumanisa i-RSS. Ukuxilongwa kuhlala kusekelwe kwisigwebo somnikezeli womntwana wakho. Nangona kunjalo, olu vavanyo lulandelayo lunokwenziwa:

• Iswekile yegazi (abanye abantwana banokuba neswekile esezantsi yegazi)
• Ukuvavanywa kobudala bamathambo (ubudala bamathambo buhlala bungaphantsi kobudala bomntwana)
• Ukuvavanywa kwemvelo (kunokufumana ingxaki ye-chromosomal)
• I-hormone yokukhula (abanye abantwana banokusilela)
• Uphando lwamathambo (ukulawula ezinye iimeko ezinokulinganisa i-RSS)

Ukukhula kokubuyiselwa kwehomoni kunokunceda ukuba le hormone ilahlekile. Olunye unyango lubandakanya:

• Ukuqinisekisa ukuba umntu ufumana iikhalori ezaneleyo zokuthintela iswekile esezantsi yegazi kunye nokukhuthaza ukukhula
• Unyango lomzimba ukuphucula ithoni yemisipha
• Uncedo kwezemfundo ukujongana nokukhubazeka ekufundeni kunye nengxaki yokusilela kwengqwalaselo umntwana anokuba nayo

Iingcali ezininzi zinokubandakanyeka ekunyangeni umntu onale meko. Ziquka:

• Ugqirha oyingcali kwimfuza ukunceda ukufumanisa i-RSS
• I-gastroenterologist okanye i-dietician ukunceda ukuphucula ukutya okufanelekileyo ukuphucula ukukhula
• Ugqirha we-endocrinologist ukumisela i-hormone yokukhula
• Umcebisi ngemfuza kunye nesayikholojisti

Abantwana abadala kunye nabantu abadala ababonakalisi iimpawu eziqhelekileyo ngokucacileyo njengeentsana okanye abantwana abancinci. Ubukrelekrele bunokuba yinto eqhelekileyo, nangona umntu enokuba nenkubazeko yokufunda.Iziphene zokuzalwa kwendlela yokuchama zinokubakho.

Abantu abane-RSS banokuba nazo ezi ngxaki:

• Ukuhlafuna okanye ukuthetha ubunzima ukuba umhlathi mncinci kakhulu
• Ukukhubazeka ekufundeni

Tsalela umnikezeli womntwana wakho ukuba iimpawu ze-RSS ziyaphuhliswa. Qinisekisa ukuba ubude kunye nobunzima bomntwana wakho bulinganiswa ngexesha lotyelelo ngalunye lomntwana olungileyo. Umboneleli unokukuthumela ku:

• Ingcali yemfuza yovavanyo olupheleleyo kunye nezifundo ze-chromosome
• I-endocrinologist yabantwana kulawulo lweengxaki zokukhula komntwana wakho

Isilver-Russell syndrome; Isifo sesilivere; I-RSS; Isifo sikaRussell-Silver

IHaldeman-Englert CR, iSaitta SC, iZackai EH. Iingxaki zeChromosome. Ku: Gleason CA, Juul SE, ii-eds. Izifo zika-Avery zoSana olusandul 'ukuzalwa. Ngomhla we-10. IPhiladelphia, PA: Elsevier; I-2018: isahluko 20.

Wakeling EL, Brioude F, Lokulo-Sodipe O, et al. Ukuchongwa kunye nolawulo lweSilver-Russell syndrome: ingxelo yokuqala yemvumelwano yamazwe aphesheya. Nat Rev Endocrinol. Ngo-2017; 13 (2): 105-124. IINKCUKACHA: 27585961 pubmed.ncbi.nlm.nih.gov/27585961/.