I-Russell-Silver syndrome

I-Russell-Silver syndrome (i-RSS) yisifo esikhona lapho kuzalwa okubandakanya ukukhula okungekuhle. Olunye uhlangothi lomzimba lungahle lubukeke lukhulu kunolunye.

Ingane eyodwa kwezingu-10 enale syndrome inenkinga ehilela i-chromosome 7. Kwabanye abantu abane-syndrome, ingathinta i-chromosome 11.

Isikhathi esiningi, kwenzeka kubantu abangenawo umlando womndeni walesi sifo.

Inani elilinganisiwe labantu abahlakulela lesi simo lihluka kakhulu. Abesilisa nabesifazane nabo bathinteka ngokulinganayo.

Izimpawu zingafaka:

• Izimpawu zokuzalwa ezinombala wekhofi onobisi (amamaki e-cafe-au-lait)
• Ikhanda elikhulu ngosayizi womzimba, ebunzini elibanzi ngobuso obuncane obunxantathu nasesilevini esincane, esincane
  
• Ukugoba kwe-pinky kubheke kumunwe wendandatho
• Ukwehluleka ukukhula, kufaka phakathi ukubambezeleka kwamathambo
• Isisindo sokuzalwa esiphansi
• Ukuphakama okufushane, izingalo ezimfushane, iminwe nezinzwane ezinenkani
• Izinkinga zesisu namathumbu ezifana ne-acid reflux nokuqunjelwa

Isimo sivame ukutholakala zisencane. Umhlinzeki wezokunakekelwa kwempilo uzokwenza ukuhlolwa komzimba.

Azikho izivivinyo zaselebhu ezithile zokuthola i-RSS. Ukuxilongwa kuvame ukususelwa ekwahlulelweni komhlinzeki wengane yakho. Noma kunjalo, izivivinyo ezilandelayo zingenziwa:

• Ushukela wegazi (ezinye izingane zingaba noshukela ophansi wegazi)
• Ukuhlolwa kweminyaka yobudala bethambo (iminyaka yobudala bethambo ivame ukuba mncane kuneminyaka yangempela yengane)
• Ukuhlolwa kofuzo (kungathola inkinga ye-chromosomal)
• I-hormone yokukhula (ezinye izingane zingase zibe nokushoda)
• Ucwaningo lwamathambo (ukukhipha ezinye izimo ezingalingisa i-RSS)

Ukukhula kwe-hormone yokukhula kungasiza uma le hormone ingekho. Ezinye izindlela zokwelapha zifaka:

• Ukuqinisekisa ukuthi umuntu uthola amakhalori anele ukuvimbela ushukela wegazi ophansi futhi akhuthaze ukukhula
• Ukwelashwa ngokomzimba ukuthuthukisa ithoni yemisipha
• Usizo kwezemfundo ukubhekana nokukhubazeka kokufunda nezinkinga zokunganaki ingane engaba nazo

Ochwepheshe abaningi bangabandakanyeka ekwelapheni umuntu onalesi sifo. Kubandakanya:

• Udokotela onguchwepheshe wezofuzo ukusiza ukuxilonga i-RSS
• I-gastroenterologist noma udokotela wezokudla ukusiza ukuthuthukisa ukudla okufanele ukukhulisa ukukhula
• Udokotela we-endocrinologist ukunquma i-hormone yokukhula
• Umeluleki wezofuzo nodokotela wezengqondo

Izingane ezindadlana nabantu abadala azibonisi izici ezijwayelekile ngokucacile njengezinsana noma izingane ezincane. Ubuhlakani bungaba yinto ejwayelekile, yize umuntu engakhubazeka ekufundeni.Ukukhubazeka kokuzalwa kwepheshana lomchamo kungaba khona.

Abantu abane-RSS bangaba nalezi zinkinga:

• Ukuhlafuna noma ukukhuluma ubunzima uma umhlathi umncane kakhulu
• Ukukhubazeka kokufunda

Shayela umhlinzeki wengane yakho uma izimpawu ze-RSS zikhula. Qiniseka ukuthi ubude nesisindo sengane yakho kuyalinganiswa ngesikhathi sokuvakasha ngakunye kwengane enhle. Umhlinzeki angakudlulisela ku:

• Uchwepheshe wezofuzo wokuhlola okugcwele kanye nezifundo ze-chromosome
• I-endocrinologist yezingane yokuphathwa kwezinkinga zokukhula kwengane yakho

Isifo se-Silver-Russell; I-Silver syndrome; I-RSS; I-Russell-Silver syndrome

IHaldeman-Englert CR, iSaitta SC, iZackai EH. Izinkinga ze-Chromosome. Ku: Gleason CA, Juul SE, ama-eds. Izifo zika-Avery’s zeNewborn. Umhlaka 10. IPhiladelphia, PA: Elsevier; 2018: isahluko 20.

UWakeling EL, uBrioude F, Lokulo-Sodipe O, et al. Ukuxilongwa nokuphathwa kwe-Silver-Russell syndrome: isitatimende sokuqala sokuvumelana kwamazwe omhlaba. Nat Rev Endocrinol. 2017; 13 (2): 105-124. I-PMID: 27585961 pubmed.ncbi.nlm.nih.gov/27585961/.