Abantwana badinga isinyithi ekudleni kwabo, yingakho abazali abaninzi bezama ukuqinisekisa ukuba abantwana babo badla ukutya okuninzi lwezinyithi nganye ngosuku. Ngaphandle kwensimbi, basengozini yokunqongophala kwe-anemia yesinyithi .
Kwenzeka ntoni xa ufumana insimbi eninzi, nangona kunjalo?
Ngethamsanqa, loo nto ayiyona ingxaki kubantwana abaninzi, njengoko umzimba wabo ulawula ukuba ingakanani insimbi abayifumanayo kwaye igcine. Kodwa ukuba bane-hemochromatosis, isifo sokuzalwa esingasifumana kubazali bomntwana, umntwana angakwazi ukufumana insimbi eninzi, ekhokelela kwisinyithi esongezelelweyo egcinwe kwisibindi somntwana, intliziyo, i-pancreas kunye nezinye izitho.
Iimpawu zeHemochromatosis
Izibonakaliso, iimpawu kunye neengxaki ezinxulumene ne-hemochromatosis zingagcina ziquka:
- intlungu edibeneyo (arthralgia) kunye ne-arthritis
- ukukhathala
- kunciphisa amandla
- ukuhla ukusinda
- intlungu zesisu
- ukulahleka kweenwele
- iingxaki zentliziyo, kubandakanywa nokunyuka kwengqondo kunye nokungaphumeleli kwentliziyo kunye ne-arrhythmias
- isifo sesibindi, ngesibindi esandisiweyo (i-hepatomegaly), i-cirrhosis, kunye nokuhluleka kwesibindi
- i-gray color or bronze discoloration
- hypothyroidism
- iswekile
- ukungabi namandla
- i-amenorrhea (ukungabikho kwexesha)
Uninzi lwabantwana abane-hemochromatosis abanazo iimpawu, nangona kunjalo, njengoko iimpawu zingenakukhula kuze kube yimva kamva ebomini, njengoko isinyithi esongezelelweyo sakha emzimbeni wazo.
Ukuchonga iHemochromatosis
Ekubeni abantwana abane-hemochromatosis kaninzi bengenayo impawu, kunokuba kunzima ukuxilongwa. Umzekelo oqhelekileyo kukuba isihlobo esiseduze kakhulu sitholakala nge-hemochromatosis kwaye ngenxa yokuba sisifo sesisu, amanye amalungu omndeni ayahlolwa.
Ngoko umntwana unokuvavanywa ngunyana wezilwanyana nangaphambi kokuba anempawu, ngenxa yengxelo yakhe yentsapho.
Ukuvavanya i-hemochromatosis kunokubandakanya iimvavanyo zegazi ukulinganisa inani lentsimbi kumzimba womntwana, kuquka ukukhangela:
- ukuphakanyiswa kokudluliselwa kwe-transferrin
- ephakamileyo i-ferritin
- insimbi yesitum ephakamileyo
- Ukunciphisa isakhono sokubopha intsimbi (TIBC)
Oku kubizwa ngokuba yipaneli yensimbi kwiilabhu ezininzi.
Ukuhlolwa kwe-Genetic yeHemochromatosis
Kwakhona kunokwenzeka ukwenza uvavanyo lwemizimba ukujonga i-gene defective (i-HFE gene) ebangela i-hemochromatosis yelifa, kuquka i-C282Y, H63D, kunye ne-S65C. Abantwana abaneikopi ezimbini zeentsholongwane ze-HFE ziza kuba ne-hemochromatosis (zisemngciphekweni wezimpawu ukuba zinayo iikopi ezimbini ze-genetic mutation efanayo), ngelixa ziba neyodwa yezakhi zengqungquthela eziguqulwayo, ziya kuba ngumphathiswa ayiyi kuvelisa nayiphi na impawu ze-hemochromatosis.
Nendima yokuhlolwa kofuzo lwabantwana yinto encinci. Khumbula ukuba i-American Academy ye-Pediatrics ithi "ukunciphisa ukugula okanye ukufa ngenxa yokuhlolwa kofuzo akuzange kuboniswe kwiimeko ezininzi apho uvavanyo oluninzi lukhona khona," kwaye "ulwazi olusisongweni lwengozi lunokubangela iimpendulo ezingathandeki zengqondo kwaye, mhlawumbi, ukucalulwa ngabaqhorensi, abaqeshi, okanye abanye. "
Ngokuqhelekileyo, kwiimeko ezininzi, kubandakanywa ne-hemochromatosis, batusa ukuba bavavanye ukuvavanya i-genetic de kube ngumntu omdala okanye unako ukwenza isisombululo esifanelekileyo, esinolwazi.
Esinye isizathu esihle sokuvavanya i-genetic test kukuba kuphela abantu abangama-50% abavavanya i-hemochromatosis baya kuba neempawu.
Ngakolunye uhlangothi, iingcali kwiNational Human Genome Research Institute zichaza ukuba "ekubeni ukuxilongwa kwangaphambili kuthetha unyango lokuqala kunye nokulawulwa kwezifo ezifanelekileyo, kunokufumana inzuzo ekuboneni abantwana abasengozini." Baye balondoloze ukuba "ukuhlolwa kofuzo kuthathwa njengeluncedo kwizibini ezicwangcisa ukuba neentsapho."
Ngokuqhelekileyo, abantwana badinga kuphela ukuba baqwalaselwe ukuhlola i-hemochromatosis ukuba:
- Abazali bobabini bane-hemochromatosis (umntwana uya kuba ne-hemochromatosis nayo)
- Umzali omnye u-hemochromatosis kunye nomnye umphathiswa we-hemochromatosis (50% ithuba lokuba umntwana abe ne-hemochromatosis)
- Bobabini abazali baphethe i-hemochromatosis (25% ithuba lokuba umntwana abe ne-hemochromatosis)
Xa umzali engatholakali kwiimvavanyo zofuzo, unokuqikelela umngcipheko womntu wokuba neenjenge ze-hemochromatosis kuxhomekeke kwiliphi ilungu lentsapho elinalo i-hemochromatosis:
- ukuba umama wakho okanye umalume unalo i-hemochromatosis, ke ithuba lakho lokuba neenjenge ze-hemochromatosis malunga ne-1%
- ukuba omnye wabazali bakho une-hemochromatosis, ke ithuba lakho lokuba neenjenge ze-hemochromatosis malunga ne-5%
- Ukuba umntakwenu okanye udade u-hemochromatosis, ke ithuba lakho lokuba neenjenge ze-hemochromatosis malunga ne-25%
Yaye ukhumbule ukuba ezininzi iingcali zincoma ukuba ukuhlolwa kofuzo kugcinelwe amalungu omntu omdala abantu abane-hemochromatosis, endaweni yokuhlola i-genetic kubantwana kwintsapho.
Kwakhona, ukuba omnye umzali unalo i-hemochromatosis kwaye omnye umzali unokuvavanywa ngokwemizimba kwaye uboniswa ukuba awunayo i-hemochromatosis geni, ngoko mhlawumbi umntwana akafuneki ukuvavanywa, kuba nguye nje ophethe. Ukuba umzali omnye ungumphathiswa kunye nomnye umzali ongeyonto, ngoko ngenye indlela umntwana unokuzama ukuvavanya ukuba ingaba nguye ophetheyo.
Unyango lweHemochromatosis
Unyango oluphambili lwe-hemochromatosis yindlela yokwelapha i-phlebotomy, apho isigulane sinalo igazi layo (malunga ne-500 ml) lisuswe nganye iveki. Ekubeni ininzi yesinyithi emzimbeni wabo egazini labo, le yindlela efanelekileyo yokufumana intsimbi eyongezelelweyo emzimbeni wabo, oqhubeka wenza igazi elingaphezulu.
Ezinye iindlela zonyango zingabandakanya ukwelashwa kwe-chelation kunye ne-deferoxamine kunye nokunciphisa ukutya okuphezulu kwintsimbi, iivithamini ezinesinyithi, i-vitamin C (enokunyusa ukuxutywa kwensimbi), utywala kunye ne-shellfish eluhlaza (ngenxa yobungozi beentsholongwane ezivela kubhaktheriya kwi-shellfish eluhlaza) .
Yintoni Oyaziyo NgeHeredchromatosis Hereditary
Ezinye izinto ezaziyo malunga nefa ye-hemochromatosis ziquka ukuba:
- I-hemochromatosis ye-Hereditary yi-autosomal discessive genetic disorder kwaye ixhaphake kakhulu kubantu abanomntla waseYurophu.
- Omnye wabantu abayi-8 ukuya kwabangu-12 ngumphathiswa we-hemochromatosis, kodwa ekubeni abazali bobabili kufuneka babe ngabathwali, kwaye ngoko ngamnye kufuneka adlulise umthamo we-hemochromatosis kumntwana wakhe, umngcipheko wokuphuhlisa i-hemochromatosis iyancinci kubantwana abaninzi.
- Ukuba umntwana usemngciphekweni we-hemochromatosis kwaye unquma ukuchasisa ukuhlolwa kofuzo, ngoko unokucinga ukuba uvavanyo lwegazi rhoqo (kwiminyaka emibili ukuya kwemihlanu), kubandakanya i-serum iron, i-TIBC, i-transferrin saturation kunye ne-ferritin level, ukuqinisekisa Ukuphuhlisa iimpawu zentsimbi engaphezulu.
- Ezinye iintlobo ze-hemochromatosis ziquka i-hemochromatosis yabantwana kunye neonatal hemochromatosis.
- I-biopsy yesibindi ukulinganisa inani lesinyithi kwisibindi kufuneka liyenze ukuba umntwana unokhe okanye unqatshelwe ukuba ne-hemochromatosis.
I-hematologist kunye / okanye i-gastroenterologist inokuba luncedo xa ucinga ukuba umntwana wakho usemngciphekweni we-hemochromatosis.
Imithombo:
Heeney MM. I-homeostasis ye-Iron kunye neengxaki ze-iron overload: Hematol Oncol Clin North North 01-DEC-2004; 18 (6): 1379-403
IHoffman: iHematology: Imigaqo-siseko kunye nokuSebenza, u-4.
I-National Human Genome Research Institute. Ukufunda NgeHedchromatosis. Ufikeleleke ngoMeyi 2016.
UNelson et al, i-American Academy yeKomiti yePediatrics kwi-bioethics: imiba yokuziphatha kunye novavanyo lwezofuzo kwizonyango. Iingcali zempilo (2001) 107: iphe 1451-1455.