Isifo sikashukela se-phosphate singenye yezifo ezingajwayelekile emikhubeni yezingane.
Lesi yisifo esidalwa ufuzo, esifana nomtholampilo, esenzeka ngemuva kwesizinda sokuphazamiseka kwephosphate ekulimazeni ku-renal tubules.
Ushintsho olunjalo luholela ekuthuthukisweni kwe-hypophosphatemia, ukuminyanisa i-calcium ne-phosphorus emgodini wamathumbu futhi, ngenxa yalokho, ukumoshwa kwamathambo okungafanele.
Njengoba wazi, ingxenye ebaluleke kunazo zonke yezicubu zamathambo yi-calcium, umuntu ayithola evela emvelweni kanye nokudla okuswelayo. Ukumuncwa kwalesi sakhi samakhemikhali kusenziwa ngamakhompiyutha we-phosphorus.
I-pathogenesis yesifo sikashukela se-phosphate ihlotshaniswa nokuguqulwa kwezakhi zofuzo okuholela ekuphazamisweni ezinqubweni ze-phosphate kusuka ekuxhunyweni kwe-renal singene egazini, okuthi ngemuva kwalokho kudale uchungechunge lokuphazamiseka kwengqondo okuhlobene nokuhlaselwa ngamathambo, ukuwohloka kwabo nokwanda kwethambeka.
Kungani kuvela lesi sifo?
Isifo sikashukela se-phosphate ezinganeni singumphumela wokuguqulwa kwesinye sezakhi zofuzo esiku-X chromosome.
Lesi sifo sitholakala ngokohlobo oluvelele, okusho ukuthi, kusuka kubaba ogulayo kuya kuwo wonke amadodakazi, futhi sisuka kumama ogulayo siye kuma-50% sabafana abazelwe kanye nama-25% amantombazane (uma nje unkosikazi enalesi sifo).
Ekusebenzeni kwezingane, kutholakala nezimo zama-hypophosphatemic rickets, ezenzeka ngomdlavuza wezinso, nazo ziyatholakala.
Kwezokwelapha, isifo sikashukela se-paraneoplastic phosphate nayo ihlukaniswa, okwenzeka ngenxa yokwanda kokukhiqizwa kwezinto ze-parathyroid hormone ngamaseli we-tumor. Ngaphezu kwalokho, lokhu kugula okuphathelene nezakhi zofuzo kungaba yingxenye yokuphazamiseka kwe-systemic, ikakhulukazi i-Fanconi syndrome.
Lesi sifo sikhonjiswa kanjani?
Emithini yesimanjemanje, kuyisiko ukuhlukanisa izinhlobo ezine eziphambili zama-hypophosphatemic rickets, aboniswa emtholampilo kusukela eminyakeni yokuqala yokuphila kwesiguli esincane futhi anezimpawu zawo siqu.
Uhlobo I diabetes I phosphate sikashukela noma i-hypophosphatemia exhunywe kwi-chromosome ye-X yisifo esiyindlalifa, imbangela enkulu yokuphazamiseka kokuphindaphindeka kwe-phosphorus ku-renal tubules, okuholela ekunciphiseni kokuqina kwe-phosphates egazini, ukuthuthukiswa kwe-phosphaturia kanye nokuvela kwezinguquko ezinjenge-rickets-like izicubu ezithinta ukwamukelwa imithamo eyanele ka-Vitith D.
Lesi sifo sivezwa eminyakeni emibili yokuqala yokuphila kwengane futhi sikhonjiswa ngokuvela kwezimpawu ezilandelayo:
- ukubuyiselwa emuva kokukhula ngemuva kokuqina kwamandla emisipha;
- ukuthuthukiswa okungatheni noma ukungabikho ngokuphelele koqweqwe lwawo emazinyweni;
- ukulahlekelwa izinwele
- ukukhubazeka kwe-valgus kwamaphutha aphansi, kuvela kanye nezinyathelo zokuqala zengane;
- izimpawu zemisebe yama-rickets, athuthuka ngomthamo ojwayelekile wamavithamini D;
- ukwehla kwezinga lama-phosphates egazini kanye nokunyuka kwawo kumchamo;
- ukubambezeleka ukwakheka kwesistimu ye-musculoskeletal ngokuya ngeminyaka.
Isifo sikashukela sohlobo II Phosphate Diabetes siyisici esinqunywe ngofuzo se-hypophosphatemia, esibusa ngokwedlule futhi esingaxhunyaniswa ocansini X chromosome.
Isifo sikashukela sohlobo II phosphate sinezimpawu ezinjengokuthi:
- ukuqubuka kokuqala kwalesi sifo kusuka eneminyaka eyi-12 izinyanga;
- ukuvezwa okukhulu kwamaphethelo aphansi kanye nokushintshwa kwamathambo;
- ukuntuleka kokubuyiselwa emuva kokukhula nomzimba oqinile;
- izimpawu zemisebe yama-rickets amnene ne-osteomalacia yezicubu zamathambo;
- ezivivinyweni zaselebhu, kunokuncipha kokugxila kwama-phosphates egazini namanani akhuphukayo emchameni ngokumelene namazinga e-calcium ajwayelekile.
Uhlobo lwe-Phosphate sikashukela sohlobo lwe-III noma i-hypocalcemic rickets yisifo sofuzo esazuzwa njenge-recosive recessive ngendlela futhi siyindlela ethile encike ku-Vitith D. Izimpawu zokuqala zalesi sifo zibonakala ngisho nasebuntwaneni.
Lapho uhlola isiguli esincane, kungenzeka ukuthola ukuthi kunezimpawu ezimbalwa ze-pathological, phakathi kwazo:
- ukungaphatheki kahle, ukudabukisa, ukusaba;
- ukuncipha kwemisipha;
- isifo esishukumisayo;
- ukukhula okuphansi, ukuthuthukiswa okusheshayo kokuwohloka;
- koqweqwe lwawo olubi;
- ukuqala sekwephuzile ukuhamba;
- I-hypophosphatemia inqunywa egazini, kanye ne-hyperphosphaturia kumchamo;
- ushintsho oluyinkimbinkimbi njengama-rickets ezindaweni zokukhula, kanye nezimpawu zokugcwala kwamathambo wezicubu ze-axial ziqoshwa ngokuqoshwa.
Uhlobo lwe-Phosphate sikashukela sohlobo lwe-IV noma ukusweleka kwe-Vitamin D3 yisifo esidluliselwa ezinganeni sivela kubazali ngendlela yokuphindelela futhi sizibonakalise sisemncane kakhulu.Izimpawu ezilandelayo zimpawu zesifo sikashukela sohlobo lwe-IV phosphate:
- ukukhubazeka kwe-valgus yamaphethelo aphansi, ukuhanjiswa kwezingxenye ezihlukile zamathambo;
- iminyakazo
- ulwelwe kanye ne-pathologies eyinkimbinkimbi ye-enamel yezinyo;
- Ama-X-ray akhomba izimpawu ezijwayelekile zama-rickets.
Ungasinquma kanjani lesi sifo?
Izincomo zomtholampilo zesifo sikashukela se-phosphate maqondana nokuxilongwa kwenqubo ye-pathological zifaka phakathi kokuziphatha okuphoqelekile kwezifundo eziningi ezihlose ukuthola iziphazamiso zokuphindukuzalwa kwe-phosphate ku-renal tubules.
Ezinye zezindlela zokuxilonga yilezi:
- ukuqoqwa kwemininingwane emangazayo evela emazwini abazali bengane ababona ukuvela kokulimala kwamathambo, ukuqina kwemilenze, ukukhula okumangalisa nokunye okunjalo;
- ukuhlolwa kwenhloso kwesiguli esincane ngokukhethwa kwama-syndromes aholayo;
- ucwaningo lofuzo lokungafani kwe-chromosome ye-X kanye nesiphetho sendlalifa ekwakhekeni kwe-hypophosphatemia;
- i-urinalysis, lapho isamba esikhulu semakhompiyutha we-phosphate sithunyelwa khona;
- Ukuhlolwa kwe-X-ray kwamathambo emithambo yezingane ngencazelo yezindawo ze-osteomalacia, i-osteoporosis, ukuphazamiseka okuthile ezindaweni ezikhulayo;
- ukuhlolwa kwegazi elabhorethri ukwehliswa kwe-phosphate ekugxileni okujwayelekile kwe-calcium.
Izici zokwelapha
Emashumini ambalwa eminyaka edlule, isifo sikashukela se-phosphate besinzima kakhulu ukuselapha, ngakho-ke bekucishe kungabi lula ukuvimbela ukushiyeka kwamathambo okubucayi. Namuhla, ngenxa yokuxilongwa kwezifo zesimanje, kungenzeka ukuthi kuthuthukiswe izibalo, ngokusho ukuthi i-hypophosphatemia itholakala ngempumelelo yini kulungiswa kwezokwelapha, inqobo nje uma lesi sifo sitholwa kusenesikhathi futhi kutholakala indlela efanele yokwelapha.
Ukwelashwa kwesifo sikashukela se-phosphate kubandakanya:
- ukuqokwa kwemithamo ephezulu ye-Vitamin D (kusuka kuma-25,000 kuye kuma-250,000 amayunithi / ngosuku);
- ukusetshenziswa kwe-calcium, phosphorus;
- ukudla ama-vithamini A no-E, izingxube ze-citrate.
Ukwelashwa komzimba kokulimala komgogodla kufanele kufake izifundo ezimbalwa zokuzivocavoca komzimba, kanye nokugqoka isikhathi eside kwe-corset esekelayo, okuzovumela ithambo ukuba likhule kahle.
Kungenzeka yini ukuvikela izifo?
Njengoba lesi sifo sinefa, singavinjelwa kuphela ngokubheka umndeni omncane ekubonisaneni kofuzo ngesikhathi sokuhlela ukukhulelwa.
Ukubonisana ngofuzo
Ukubhekisisa ikakhulukazi le nkinga kufanele kunikezwe imibhangqwana lapho omunye wabalingani ehlushwa yilesi sifo. Uchwepheshe onekhono uzochaza amathuba okuba nengane ephilile futhi axwayise ngobungozi bokukhulelwa umntwana ozozuza lesi sifo ngomunye wabazali bakhe.
Ukuvimbela lesi sifo okwesibili kuqukethe ukuhlonza okufika ngesikhathi kweziguli ezingaba khona kanye nokwelashwa okunekhono kwezingane ezincane ezivele zinezimpawu zokuqala ze-hypophosphatemia.Ngokuphendula okungalungile enkingeni, ingane inezinkinga nemiphumela eminingana, kufaka phakathi:
- ukusala ngemuva kontanga ekukhuleni ngokomzimba nangokwengqondo;
- ukuvela kokulimazeka okukhulu komgogodla kanye nemikhawulo ephansi;
- Ama-pathologies amakhulu we-koqweqwe lwawo;
- ukuhlanekezela kwamathambo e-pelvic, kunciphisa amadayimitha awo;
- ukwephulwa kokuthuthukiswa kwama-ossicles endlebe endlebeni ephakathi kanye nokulahleka kwezindlebe;
- i-urolithiasis kanye nokwehluleka kwezinso okuqhamuka kukho.
Amavidiyo ahlobene
UDkt Komarovsky kuma-rickets kanye nokushoda kwe-Vitamin D ezinganeni:
Ngokuvamile, i-prognosis yesifo sikashukela se-phosphate iyathandeka, kepha izingane ezinjalo zingadinga ukuvuselelwa isikhathi eside kanye nokuzivumelanisa nezimo nempilo enokukhubazeka kwamathambo. Lezi ziguli ezincane kufanele zibhaliswe njalo kwi-dispensary futhi ngezikhathi ezithile zibonisane ngesimo sazo ngochwepheshe abakhethekile (i-endocrinologist, nephrologist).
