Mob Ntshav Qab Zib > Mob ntshav qab zib muaj teeb meem

Ntshav qab zib phosphate yog qhov kev tshawb fawb caj ces tsis cuam tshuam nrog kev ua txhaum ntawm kev tsim tawm ntawm cov tshuaj insulin hauv cov neeg txiav ntshav thiab cov ntshav qabzib hauv cov ntshav. Tus kab mob no yog tshwm sim los ntawm kev siv cov metabolism hauv vitamin tsis raug, nrog rau phosphates. Nrog kev kuaj mob ntshav qab zib phosphate, tsis muaj qhov thim rov qab nqus cov tshuaj no rau hauv cov hlab hlaus, thiab cov pob txha pob txha yog tus cwj pwm tsis haum rau cov tshuaj lom neeg.

Ntshav ntshav phosphate tau tshwm sim li cas hauv menyuam yaus?

Hypophosphatemic rickets pib tshwm sim rau cov menyuam yaus thaum menyuam yaus. Feem ntau, cov tsos mob tshwm sim thawj xyoo lossis thaum xyoo txuas ntxiv, thaum tus me nyuam nyuam qhuav pib taug kev ntawm nws tus kheej. Ntshav qab zib phosphate tsis cuam tshuam rau tus neeg txoj kev mob tshwj xeeb.

Muaj kev loj hlob qeeb.
Ob txhais ceg yuav ntswg.
Lub hauv caug thiab pob taws pob qij txha tau deformed.
Cov pob txha nyob hauv thaj chaw ntawm pob taws pob qij txha yog cov tuab tuab.
Txo cov leeg nqaij leeg.
Thaum lub sij hawm palpation, hnov mob hauv qab thiab pob txha. Kev mob hnyav yuav ua rau tus menyuam nres ntawm nws tus kheej taw.
Muaj qee zaus, txha hniav laus nyob ntawm cov hniav, rickets hauv tus txha nqaj lossis txha caj dab rau pom.
Spasmophilia, tus yam ntxwv ntawm rickets nrog cov vitamin D tsis txaus, tuaj yeem tsim kho.
Cov ceg tawv ntawm cov menyuam mos tuaj yeem muaj luv luv (feem ntau tsis sib luag).
Nrog lub hnub nyoog, tus neeg mob nthuav dav osteomalacia.
Cov duab xoo hluav taws xob tau qhia txog kev txhim kho txha, lub cev pob txha tau tsim los lig.
Cov yam ntxwv zoo calcium hauv cov pob txha.
Cov sib xyaw ua ke ntawm electrolytes, ntshav amino acids, creatinine, CBS tsis hloov.

Ib tug menyuam yaus xav tau cov khoom muaj txiaj ntsig zoo thiab muaj txiaj ntsig zoo, nrog rau phosphorus thiab calcium, txhawm rau kev loj hlob thiab kev loj hlob. Qhov tsis muaj cov ntsiab lus no thaum thawj xyoo ntawm lub neej piav qhia qhov hnyav ntawm tus kab mob.

Ntau yam ntawm cov kev ua kom paub tus kabmob

Ntshav qab zib phosphate, nyob ntawm seb cov tshuaj tiv thaiv rau kev qhia txog ntawm cov vitamin D tau faib raws li hauv qab no:

Nws yog tus cwj pwm los ntawm cov ntsiab lus nce ntxiv ntawm inorganic phosphates hauv cov ntshav, uas tau tshwm sim vim muaj kev cuam tshuam ntau ntxiv hauv cov hlab ntsha hlaus.
Nws yog tsiag ntawv los ntawm nce reabsorption ntawm phosphates nyob rau hauv cov hnyuv thiab raum.
Reabsorption yuav mob ntau dua qub hauv txoj hnyuv.
Ntshav qab zib phosphate muaj qhov nce siab ntxiv rau cov vitamin D. Txawm tias cov tshuaj me me ntawm cov tshuaj no tuaj yeem ua rau intoxication.

Cov kws kho mob cov lus

Hereditary phosphate mob ntshav qab zib yog cov kab mob muaj keeb kwm tsis zoo ntawm cov kab mob muaj keeb nrog lub cev tsis zoo ntawm phosphates thiab vitamin D. Hypophosphatemic rickets yog ib hom kab mob los ntawm hypophosphatemia, tsis txaus calcium thiab rickets lossis osteomalacia, tsis hnov mob vitamin D Cov tsos mob muaj xws li mob pob txha, pob txha lov thiab mob kev loj hlob. Kev kuaj mob yog txiav txim siab los ntawm kev txiav txim siab ntshiab phosphate, alkaline phosphatase thiab 1,25-dihydroxyvitamin D3 qib. Kev kho mob suav nrog kev noj phosphates thiab calcitriol.

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Ua thiab pathogenesis ntawm phosphate mob ntshav qab zib

Tsev neeg hypophosphatemic rickets tau txais koob hmoov los ntawm X-qhov tseem ceeb hom. Cov kab mob kis tau los ntawm cov kab mob hypophosphatemic rickets muaj qee zaum cuam tshuam nrog benign mesenchymal hlav (oncogenic rickets).

Lub hauv paus ntawm tus kabmob yog qhov txo qis hauv kev rov kho dua ntawm phosphates nyob rau ntawm cov menyuam thaum muaj menyuam, uas ua rau cov ntshav hypophosphatemia. Qhov kev tsis zoo no nthuav dav vim yog qhov hloov ncig thiab cuam tshuam nrog thawj qhov kev tsis txaus siab hauv osteoblast muaj nuj nqi. Kuj tseem muaj qhov txo qis hauv plab hnyuv nqus ntawm calcium thiab phosphate. Cov pob txha tsis zoo muaj ntau dua vim muaj phosphate tsawg thiab ua haujlwm ntawm cov osteoblasts dua li vim tias cov calcium tsis tshua zoo thiab muaj kev nce qib ntawm parathyroid hormone hauv calcium-tsis muaj rickets. Txij li theem ntawm 1,25-dihydroxycholecalciferol (1,25-dihydroxyvitamin D) zoo li qub lossis qis dua me ntsis, ib qho kev tsis txaus ntseeg ntawm kev tsim cov ntaub ntawv nquag ntawm cov vitamin D tuaj yeem xav tias, ib txwm hypophosphatemia yuav tsum ua rau nce ntawm theem ntawm 1,25-dihydroxyvitamin D.

Hypophosphatemic rickets (mob ntshav qab zib phosphate) yuav tshwm sim vim txo phosphate reabsorption hauv cov tub ntxhais hluas. Qhov no cov tubular ua hauj lwm tsis zoo yog pom nyob rau hauv kev rho tawm, cov hom qub txeeg qub teg yog qhov tseem ceeb, txuas nrog X chromosome. Ntxiv rau, phosphate mob ntshav qab zib yog ib qho ntawm cov ua haujlwm ntawm Fanconi syndrome.

Paraneoplastic phosphate mob ntshav qab zib yog tshwm sim los ntawm kev tsim cov kab mob parathyroid hormone zoo li los ntawm qog cov hlav.

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Cov tsos mob ntawm ntshav qab zib Phosphate

Hypophosphatemic rickets yog qhov ua rau nws tus kheej muaj mob ntau yam, los ntawm kev tiv thaiv asymptomatic hypophosphatemia qeeb mus rau kev txhim kho lub cev thiab kev loj hlob qis mus txog lub tsev kho mob ntawm mob rickets lossis osteomalacia. Kev tshwm sim hauv cov menyuam yaus feem ntau txawv tom qab lawv pib taug kev, lawv txhim kho O-zoo li tus ceg ntawm qhov ceg thiab lwm yam pob txha pob txha, pob txha, pob txha, mob pob txha thiab qis qis. Kev loj hlob Bony ntawm cov chaw txuas nqaij ntshiv tuaj yeem txwv kev txav chaw. Nrog hypophosphatemic rickets, rickets ntawm tus txha nqaj lossis txha caj qaum, qhov tsis xws luag ntawm txha hniav laus thiab spasmophilia, uas txhim kho nrog cov vitamin D-tsis muaj rickets, tsis tshua pom.

Cov neeg mob yuav tsum txiav txim siab txog qib calcium, phosphates, alkaline phosphatase thiab 1,25-dihydroxyvitamin D thiab HPT hauv ntshav dej, nrog rau cov kuab phosphate tsis txaus. Nrog hypophosphatemic rickets, theem ntawm phosphates hauv cov ntshav cov ntshav tau txo qis, tab sis lawv qhov kev tso tawm hauv cov zis yog siab. Ntshav dej calcium thiab qib PTH yog qhov qub, thiab cov alkaline phosphatase feem ntau yog nce siab. Nrog rau cov calcium uas tsis muaj cov rickets, hypocalcemia yog sau tseg, tsis muaj ntshav qab zib hypophosphatemia los sis nws yog mob me, kev tshem tawm phosphates hauv cov zis tsis nce ntxiv.

Hypophosphatemia tau kuaj pom hauv cov menyuam mos. Hauv 1-2 lub xyoo ntawm lub neej, cov tsos mob ntawm tus kab mob tshwm sim: kev loj hlob qeeb, qhov tsis zoo ntawm qhov qis qis. Cov leeg tsis muaj zog yog mob me los yog qhaj dua. Kev tsis pom zoo luv luv txhais ceg yog tus yam ntxwv. Hauv cov neeg laus, osteomalacia maj mam loj hlob tuaj.

Txog rau hnub no, 4 yam kev pub muaj keeb ntawm kev tsis txaus siab hauv cov kab mob hypophosphatemic rickets tau piav qhia.

Hom I - X-txuas ntshav mob hypophosphatemia - ntshav qab zib D-tiv thaiv kab mob ntshav qab zib (hypophosphatemic tubulopathy, mob ntshav qab zib hypophosphatemia, kab mob ntshav qab zib muaj ntshav qab zib, ntshav qab zib phosphate, mob ntshav qab zib phosphate ntshav qab zib, mob rwj tub raum, Albert Blairt's mob) vim ib qho kev txo qis hauv phosphate reabsorption nyob rau hauv qhov ze ntawm lub raum hlaus thiab nthuav tawm los ntawm hyperphosphaturia, hypophosphatemia thiab kev txhim kho ntawm rickets-xws li kev hloov pauv uas tiv taus cov koob tshuaj zoo li qub ntawm vitamin D.

Nws tau xav tias nrog X-txuas rau hypophosphatemic rickets, txoj cai ntawm kev ua si ntawm 1-a-hydroxylase nrog phosphate yog qhov tsis taus, uas qhia qhov tsis txaus ntseeg ntawm cov synthesis ntawm vitamin D metabolite 1.25 (OH) 2D3. Qhov siab ntawm l, 25 (OH) 2D3 hauv cov neeg mob yog qhov tsis txaus rau kev txiav txim siab ntawm hypophosphatemia.

Tus kab mob kis tau nws tus kheej mus txog 2 xyoos ntawm lub neej. Tus yam ntxwv tshwj xeeb tshaj plaws:

stunted kev loj hlob, zaum-sawv cev, cov leeg nqaij ua kom muaj zog, tsis muaj qhov hypoplasia ntawm qhov txha hniav laus ntawm cov hniav mus tas li, tab sis muaj cov ntawv txuas ntxiv ntawm cov chaw mos, alopecia,
hypophosphatemia thiab hyperphosphaturia nrog cov ntshav calcium calcium thiab nce ntxiv phosphatase alkaline,
kev txiav ceg tawv hnyav (nrog pib kev taug kev),
Xoo hluav taws xob rickets-zoo li kev hloov ntawm cov pob txha - dav diaphysis nrog lub thooj ntawm cov cortical txheej, cov qauv ntxhib ntawm cov leeg pob txha, txha caj qaum, lub cev tsis ua haujlwm ntawm qhov qis qis, ncua tsim cov pob txha, tag nrho cov ntsiab lus calcium hauv cov pob txha tau nce.

Kev rov ua kom tau phosphates hauv cov raum tsawg dua li 20-30% lossis tsawg dua, qhov kev tso tawm ntawm phosphorus hauv cov zis yuav nce mus rau 5 g / hnub, qhov haujlwm ntawm alkaline phosphatase tau nce (2-4 zaug piv nrog cov qauv). Hyperaminoaciduria thiab glucosuria yog uncharacteristic. Kev tshem tawm calcium tsis tau hloov.

Muaj 4 qhov chaw kho mob thiab biochemical hloov pauv ntawm phosphate mob ntshav qab zib raws li cov tshuaj tiv thaiv kev qhia txog ntawm cov vitamin D. Hauv thawj qhov kev hloov pauv, kev nce hauv cov ntsiab lus ntawm inorganic phosphates hauv cov ntshav thaum kho yog cuam tshuam nrog kev nce ntxiv ntawm lawv cov reabsorption hauv cov hlaus rov qab, nyob hauv ob, phosphate reabsorption nyob rau hauv ob lub raum thiab cov hnyuv tau zoo tuaj, nrog rau cov thib peb - nce reabsorption tshwm sim tsuas yog nyob rau hauv txoj hnyuv, thiab plaub, kev nkag siab zoo rau cov vitamin D tau nce ntau, yog li txawm tias muaj cov tshuaj vitamin me me ua rau muaj kev qaug dab peg.

Hom II - ib daim ntawv ntawm hypophosphatemic rickets - yog ib qho autosomal tseem ceeb, tsis txuas nrog X kab mob xos. Tus kab mob yog tus cwj pwm los ntawm:

qhov pib ntawm tus kab mob thaum hnub nyoog 1-2 xyoos,
curvature ntawm ob txhais ceg nrog pib ntawm kev taug kev, tab sis tsis muaj hloov qhov siab, muaj zog lub cev, lub cev pob txha deformations,
hypophosphatemia thiab hyperphosphaturia nrog cov calcium uas ib txwm muaj thiab cov txiaj ntsig kev ua si ntawm alkaline phosphatase nce ntxiv,
Xoo hluav taws xob: cov tsos mob me me ntawm rickets, tab sis nrog osteomalacia loj heev.

Tsis muaj kev hloov pauv ntawm cov khoom siv roj ntsha, CBS, qhov kev nqus ntawm parathyroid hormone, muaj pes tsawg leeg cov ntshav amino acids, qib ntawm creatinine, thiab residual nitrogen hauv cov ntshav dej. Hloov zis yog uncharacteristic.

Hom III - autosomal recessive dependant rau cov vitamin D (hypocalcemic rickets, osteomalacia, hypophosphatemic vitamin D-depend rickets nrog aminoaciduria). Qhov ua rau muaj tus kabmob yog qhov ua txhaum ntawm kev tsim ntawm 1.25 (OH) 2D3 hauv lub raum, uas ua rau lub cev tsis muaj peev xwm nqus tau cov calcium nyob rau hauv txoj hnyuv thiab muaj kev cuam tshuam ncaj qha ntawm cov vitamin D rau cov pob txha tshwj xeeb receptors, hypocalcemia, hyperaminoaciduria, theem nrab hyperparathyroidism, tsis hnov qab phosphorus reabsorption thiab hypophosphatemia.

Qhov pib ntawm tus kab mob yog hais txog lub hnub nyoog ntawm 6 lub hlis. txog li 2 xyoos Cov cim feem ntau:

excitability, hypotension, convulsions,
hypocalcemia, hypophosphatemia, hyperphosphaturia thiab nce kev ua si ntawm alkaline phosphatase hauv cov ntshav. Nws yog nce los ntawm ntshav parathyroid hormone concentrates, thiab generalized aminoaciduria thiab ib qho kev tsis sib haum xeeb kuj tau pom, qee zaum kuj tso zis acidification tsis xws luag,
kev pib qeeb ntawm kev taug kev, tsis meej, kev loj hlob sai deformities, leeg tsis muaj zog, txha hniav laus ntshav dawb, txha hniav tsis taus,
Xoo hluav taws xob qhia rickets loj heev nyob rau thaj tsam ntawm kev loj hlob ntawm cov pob txha ntev tubular, ua rau nyias ntawm cov cortical txheej, ib qho nyiam pob txha. Tsis muaj kev hloov pauv hauv CBS, cov ntsiab lus ntawm cov pa nitrogen, tab sis cov ntsiab lus ntawm l, 25 (OH) 2D3 hauv cov ntshav tau txo qis.

Hom IV - vitamin D3 tsis muaj txaus - yog tau los ntawm ib qho kev pheej hmoo tsis haum lossis tshwm sim ib zaug, cov ntxhais feem ntau muaj mob. Qhov pib ntawm tus kab mob tau sau tseg nyob rau hauv thaum yau, nws yog tus cwj pwm los ntawm:

curvature ntawm ob txhais ceg, deformation ntawm lub pob txha, cramps,
nquag alopecia thiab qee zaum hniav anomaly,
Xoo hluav taws xob qhia rickets ntawm qhov sib txawv.

Kev kuaj mob ntshav qab zib phosphate

Ib qho ntawm cov cim uas xav tias phosphate mob ntshav qab zib yog qhov tsis muaj txiaj ntsig ntawm cov qauv tshuaj ntawm cov vitamin D (2000-5000 IU / hnub) hauv cov menyuam yaus raug mob los ntawm rickets. Txawm li cas los xij, lo lus "Vitamin D-resistant rickets", yav dhau los siv los hais txog cov ntshav qab zib phosphate, tsis tau muaj tseeb.

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Kev kuaj mob sib txawv ntawm phosphate muaj ntshav qab zib

Nws yog qhov tsim nyog kom sib txawv raws caj ces phosphate mob ntshav qab zib nrog vitamin D-tsis txaus rickets, uas qiv nws tus kheej kom zoo rau kev kho mob, de Toni-Debre-Fanconi syndrome, osteopathy hauv kev mob raum tsis ua haujlwm.

Thaum cov tsos mob phosphate mob ntshav qab zib tshwm sim thawj zaug hauv cov neeg laus, oncogenic hypophosphatemic osteomalacia yuav tsum xav. Qhov txawv txav ntawm paraneoplastic syndrome tau pom nyob rau hauv ntau cov qog, nrog rau daim tawv nqaij (ntau yam dysplastic nevi).

Qhov tshwm sim thiab muaj teeb meem tshwm sim

Ntshav qab zib phosphate yog ib qho mob loj heev uas tsis tuaj yeem tsis quav ntsej. Txwv tsis pub, tsis xav tau, thiab cov teeb meem txaus ntshai tuaj yeem tsim.

Cov no suav nrog:

Tus cwj pwm yog cuam tshuam, thiab lub cev pob txha yuav deformed yog tias ib tus neeg raug mob phosphate mob ntshav qab zib thaum yau.
Ib tug menyuam yaus uas muaj tus mob zoo sib xws feem ntau poob qab ntawm txoj kev loj hlob (ob qho tib si lub hlwb thiab lub cev).
Tus neeg mob yuav dhau los ua neeg xiam oob qhab vim muaj kev nce qib ntawm pob txhaws thiab pob txha deformities yog tias tsis muaj kev kho kom txaus.
Ua txhaum lub sij hawm thiab ntu ntawm teething hauv tus menyuam cov hniav yog ua txhaum.
Pathology ntawm cov qauv ntawm tus txha hniav laus yog qhia.
Cov neeg mob yuav hnov tias tsis hnov lus vim muaj kev txhim kho tsis zoo ntawm cov pob txha hauv nruab nrab.
Muaj kev pheej hmoo ntawm nephrocalcinosis. Tus kab mob no yog tus cwj pwm los ntawm kev tso nyiaj ntawm calcium ntsev nyob rau hauv ob lub raum, uas ua rau muaj peev xwm ua rau hloov khoom nruab nrog cev.
Ntshav qab zib phosphate, kuaj pom hauv cov poj niam, tuaj yeem ua txoj kev xeeb tub thaum yug me nyuam thiab ua rau lub plab phais.

Qhov tshwm sim ntawm tus kab mob yam tsis muaj kev kho kom zoo txaus nyob rau lub neej. Outwardly, muaj teeb meem ntawm phosphate mob ntshav qab zib yog pom los ntawm kev loj hlob qis thiab curvature ntawm ob txhais ceg.

Tiv Thaiv Kab Mob

Ntshav qab zib phosphate yog ib hom mob uas kis tau los ntawm yuav luag txhua qhov mob los ntawm niam txiv mob rau menyuam. Yog tias nws qhov tsos tshwm sim vim caj ces, tus neeg lossis tus kws kho mob uas tsim nyog yuav tsis muaj peev xwm cuam tshuam nws txoj kev txhim kho thiab tsis suav qhov txaus ntshai ntawm tus kab mob.

Kev tiv thaiv ntawm cov kab mob no tsuas yog tswj hwm kev tiv thaiv qhov tshwm sim ntawm lub txim thiab txo kev pheej hmoo ntawm pob txha pob txha deformation hauv cov neeg mob uas muaj hnub nyoog txawv.

Cov kev ntsuas no suav nrog cov hauv qab no:

Nws yog ib qho tseem ceeb rau cov niam txiv tsis txhob nco thawj cov tsos mob ntawm tus kab mob. Nws yog ib qho tseem ceeb uas yuav tau hu rau tus kws kho mob tshwj xeeb kom pab txhawm rau soj ntsuam ntshav qab zib phosphate thaum ntxov ntawm kev txhim kho thiab pib kho kom tsim nyog.
Kev tshuaj xyuas cov menyuam ib txwm muaj cov kab mob hais tawm tas mus li ntawm tus kws kho mob endocrinologist thiab tus kws kho menyuam yaus.
Muaj kev sib tham caj ces thiab kuaj yuav tsum muaj nyob rau theem ntawm txoj kev xeeb tub rau txhua tsev neeg uas cov txheeb ze nyob muaj mob zoo ib yam li cov menyuam yaus. Qhov no yuav ua rau cov niam txiv paub txog cov kev pheej hmoo thiab cov teeb meem yuav tshwm sim uas tus menyuam hauv plab yuav tsum npaj kom pib kho tus mob kom raws sijhawm.