Koj tus menyuam cov rau tes thiab lub hauv caug puas txawv? Puas yog nws yog Nail-Patella Syndrome?

Koj puas tau pom muaj kev hloov pauv ntawm koj tus menyuam cov rau tes lossis lub hauv caug? Qee zaum cov no tuaj yeem yog cov cim qhia ntawm tus mob caj ces hu ua Nail-Patella Syndrome. Qhov no yuav zoo li txaus ntshai, tab sis tsis txhob txhawj. Cia peb tham txog nws kom meej thiab yooj yim. Qhov no tuaj yeem cuam tshuam rau qhov tsos thiab kev ua haujlwm ntawm qee qhov ntawm tus menyuam cov rau tes, pob txha, qhov muag, thiab lub raum.

Cov tsos mob ntawm tus mob no yog dab tsi? Koj paub nws li cas?

Qee qhov ntawm lub cev ntawm tus menyuam uas muaj tus mob Nail-Patella Syndrome yuav zoo li lossis ua haujlwm txawv ntawm qhov xav tau. Cia peb saib cov tsos mob no yog dab tsi:

Cov rau tes

Tej zaum koj tus menyuam cov rau tes yuav luv heev, lossis ploj lawm. Tej zaum koj yuav pom cov rau tes tawg, tawg, lossis hloov xim. Cov rau tes feem ntau raug cuam tshuam ntau dua li cov rau tes taw. Cov kev hloov no pom tseeb tshwj xeeb ntawm tus ntiv tes xoo thiab tus ntiv tes qhia.

Lub hauv caug (Patella)

Lub pob txha caj qaum, lossis yam uas cov kws kho mob hu ua "Patella", tuaj yeem me dua, hloov pauv mus rau lwm yam, lossis txawm tias ploj mus. Qee zaum lub pob txha caj qaum no tuaj yeem tso siab dua me ntsis lossis mus rau sab dua li qub. Qhov no tuaj yeem ua rau tus menyuam lub hauv caug mob, tsis ruaj khov, lossis tsis tuaj yeem khoov lossis ncaj lub hauv caug kom raug (ntau yam kev txav mus los). Kev tawg pob txha caj qaum yog qhov tshwm sim ntau hauv qhov xwm txheej no. Xav txog, thaum ua si, koj tus menyuam cia li tuav nws lub hauv caug thiab pib quaj, tsis tuaj yeem taug kev.

Lub luj tshib

Cov pob txha hauv koj tus menyuam txhais tes yuav tsis loj hlob zoo li qhov xav tau. Tsis tas li ntawd, qee zaum koj yuav pom cov tawv nqaij ntxiv (zoo li cov ntaub so ntswg txuas) nyob ib puag ncig lub luj tshib. Cov kev hloov pauv no yuav txwv tsis pub tig caj npab, ncab nws, thiab khoov lub luj tshib.

Cov pob txha ntawm lub duav

Koj tus menyuam tej zaum yuav muaj cov pob txha me me tawm (cov kws kho mob hu cov no 'iliac horns') ntawm lawv cov pob txha duav. Feem ntau lawv nyob rau ob sab ntawm pob txha duav. Qee zaum lawv tuaj yeem hnov ​​​​​​los ntawm daim tawv nqaij ntawm tus menyuam, tab sis feem ntau lawv tsis yog teeb meem loj.

Qhov muag

Qhov siab hauv tus menyuam lub qhov muag yuav nce ntxiv (mob ntshav siab hauv qhov muag). Qhov no thaum kawg tuaj yeem hloov mus ua mob hu ua glaucoma. Txawm hais tias feem ntau tsis muaj tsos mob thaum xub thawj, qee tus menyuam yuav mob taub hau, muaj teeb ci ntsa iab nyob ib puag ncig lub teeb, lossis pom kev tsis meej.

Cov raum

Kwv yees li plaub ntawm kaum tus neeg uas muaj tus kab mob Nail-Patella syndrome yuav muaj mob raum, txawm tias thaum yau lossis thaum laus. Qhov no tuaj yeem sib txawv ntawm qhov tsis hnyav mus rau qhov txaus ntshai rau lub neej. Txawm tias mob raum me me kuj tuaj yeem ua rau mob hnyav, maj mam lossis tam sim ntawd.

Lwm cov tsos mob

Ib txhia neeg uas muaj tus mob Nail-Patella syndrome kuj tseem yuav muaj lwm yam tsos mob, xws li:

• Taug kev ntawm cov ntiv taw vim yog qhov nruj ntawm cov leeg Achilles.
• Cov leeg nqaij ntawm caj npab thiab ceg txo qis.
• Kab mob cem quav thiab/lossis mob plab hnyuv tsis zoo.
• Txo cov pob txha pob txha ntom ntom.
• Qee zaum loog, tingling, lossis tsis hnov ​​​​​​mob hauv tes thiab taw.
• Cov hniav tsis muaj zog los yog yooj yim tawg los yog cov enamel hniav nyias.
• Kev nkhaus tsis zoo ntawm tus txha nqaj qaum (scoliosis).

Cov kws tshawb nrhiav tseem tab tom sim nkag siab tias cov teeb meem no feem ntau tshwm sim li cas ntawm cov neeg uas muaj tus kab mob Nail-Patella syndrome.

Vim li cas tus mob no thiaj tshwm sim rau ntawm tus ntiv tes thiab tus pob txha caj qaum?

Hais yooj yim xwb, tus mob Nail-Patella Syndrome yog tshwm sim los ntawm kev hloov pauv hauv koj tus menyuam cov noob caj noob ces (cov noob caj noob ces sib txawv). Feem ntau , cov kev hloov pauv no pom muaj nyob rau hauv ib lub noob caj noob ces hu ua LMX1B rau cov neeg uas muaj tus mob no. Lub noob caj noob ces LMX1B no yog qhov qhia rau tus menyuam yuav ua li cas kom zoo li lawv txhais tes, ceg, qhov muag, thiab lub raum thaum lawv tseem nyob hauv plab.

Cov kev hloov pauv ntawm cov noob caj noob ces no ua rau cov protein LMX1B tsis ua haujlwm raws li qhov xav tau. Yog li ntawd, ntau qhov ntawm lub cev ntawm tus menyuam tsis tsim tau li qub, ua rau muaj cov tsos mob ntawm tus mob Nail-Patella syndrome.

Txawm li cas los xij, tsis tshua muaj neeg uas muaj cov tsos mob ntawm tus mob Nail-Patella yam tsis muaj kev hloov pauv hauv LMX1B gene. Cov kws tshawb fawb xav tias lwm cov gene yuav koom nrog, thiab lawv tseem tab tom tshawb nrhiav.

Puas yog tus kab mob no kis tau los ntawm ib tiam dhau ib tiam?

Yog lawm, Nail-Patella Syndrome yog ib yam mob uas tau kis los ntawm ib tiam mus rau ib tiam (hauv "autosomal dominant pattern"). Qhov no txhais tau tias yog tias ib tug me nyuam tau txais ib daim qauv ntawm cov gene variant no los ntawm ib tug niam txiv, tus me nyuam yuav muaj tus mob no ntau dua.

Yog hais yooj yim xwb, yog koj muaj tus mob Nail-Patella syndrome, koj cov menyuam muaj 50% feem pua ​​uas yuav tau tus mob no. Qhov kev pheej hmoo no zoo ib yam rau txhua zaus cev xeeb tub. Thiab nws tsis muaj teeb meem yog koj yog ntxhais lossis tub.

Kwv yees li cuaj ntawm kaum tus neeg uas muaj tus mob Nail-Patella syndrome muaj ib tug ntawm lawv niam lawv txiv uas muaj tus mob no. Txawm li cas los xij, kwv yees li ib ntawm kaum tus neeg yuav tsis muaj ib tug neeg hauv tsev neeg uas muaj tus mob no. Qhov no txhais tau tias qee tus menyuam yog thawj tus hauv lawv tsev neeg uas yug los muaj tus mob no.

Qhov no ua rau muaj teeb meem dab tsi ntxiv?

Kab mob Nail-Patella Syndrome tuaj yeem ua rau muaj qee yam teeb meem. Lawv yog:

• Kab mob pob qij txha (mob pob qij txha) hauv koj tus menyuam lub hauv caug thiab/lossis lub luj tshib yuav tshwm sim thaum muaj hnub nyoog yau dua li qhov xav tau.
• Glaucoma tuaj yeem ua rau pom kev tsis meej yog tias tsis kho kom zoo.
• Kev ua haujlwm tsis zoo ntawm lub raum.

Ib txhia neeg uas muaj tus mob Nail-Patella syndrome yuav tsum tau ntxuav lub raum lossis hloov raum vim yog lub raum tsis ua haujlwm.

Tsis tas li ntawd xwb, yog tias ib tug neeg uas muaj tus kab mob Nail-Patella syndrome cev xeeb tub, muaj kev pheej hmoo ntawm kev mob hu ua "preeclampsia" thaum cev xeeb tub. Cov kws kho mob saib xyuas thiab kho cov tshuaj raws li qhov xav tau thaum cev xeeb tub kom txo qhov kev pheej hmoo no.

Yuav kuaj tus kab mob no li cas thiaj paub tseeb?

Cov kws kho mob yuav ua ib lossis ntau qhov kev kuaj mob no los kuaj mob no:

• Kev kuaj lub cev : Nrhiav tej yam xws li kev hloov pauv ntawm cov rau tes thiab pob txha.
• Kev kuaj duab tshwj xeeb : Cov duab X-ray, CT scans, thiab MRIs yog siv los kuaj xyuas cov pob txha kom ze dua.
• Kev kuaj ntshav thiab/lossis zis : Xyuas seb lub raum ua haujlwm li cas.
• Kev kuaj lub raum : Yuav muab ib daim nqaij me me ntawm lub raum coj mus kuaj thiab xyuas seb puas muaj kev hloov pauv ntawm cov nqaij uas yog rau tus mob Nail-Patella syndrome.
• Kev kuaj noob caj noob ces : Qhov no kuaj rau cov kev hloov pauv ntawm noob caj noob ces.

Cov kws kho mob yuav nrog koj tham thiab nug txog keeb kwm kev kho mob hauv tsev neeg ntawm koj tus menyuam. Piv txwv li, lawv yuav nug seb puas muaj leej twg hauv koj tsev neeg tau muaj tus mob Nail-Patella syndrome lossis lwm yam mob caj ces. Cov ntaub ntawv no yuav pab tau rau kev kuaj mob. Lawv kuj tseem yuav pom zoo kom koj lossis lwm tus neeg hauv tsev neeg kuaj mob caj ces.

Cov tsos mob ntawm tus mob Nail-Patella feem ntau tshwm sim thaum tseem hluas. Txawm li cas los xij, rau qee tus neeg, tus mob no yuav tsis raug kuaj mob tau ntau xyoo, vim tias cov tsos mob tsis hnyav heev lossis vim tias cov tsos mob tsis pom tseeb. Cov kws kho mob tuaj yeem kuaj mob rau cov menyuam yaus thiab cov neeg laus txhua lub hnub nyoog.

Cov kws kho mob twg yuav kho kuv tus menyuam thiab kuaj mob?

Tej zaum koj tus menyuam yuav xav tau ib pab kws kho mob uas tshwj xeeb hauv cov qhov ntawm lub cev uas raug mob los ntawm Nail-Patella Syndrome. Piv txwv li:

• Tus kws kho pob txha pab nrog cov teeb meem pob txha.
• Tus kws kho mob nephrologist saib xyuas kev ua haujlwm ntawm tus menyuam lub raum.
• Ib tug kws kho qhov muag tshwj xeeb yuav saib xyuas tus menyuam lub qhov muag.

Cov kev kho mob rau tus mob nail-patella syndrome yog dab tsi?

Mob Nail-Patella Syndrome yog ib yam mob uas yuav kho tau mus ib txhis. Tsis muaj tshuaj kho tau. Txawm li cas los xij, muaj cov kev kho mob uas siv tau los tswj cov tsos mob thiab txo qhov kev pheej hmoo ntawm cov teeb meem.

Muaj ntau hom kev kho mob rau qhov no, thiab tej zaum yuav xav tau ntau tshaj ib txoj kev kho mob nyob ntawm seb tus mob no cuam tshuam li cas rau koj tus menyuam. Cov kws kho mob ntawm koj tus menyuam yuav npaj kev kho mob raws li lawv xav tau. Cov kev xav tau no yuav hloov pauv raws sijhawm. Qee qhov kev kho mob uas yuav muaj xws li:

• Kev kho lub cev kom pab tau cov teeb meem txav mus los.
• Cov tshuaj siv los tswj cov pob txha thiab cov leeg mob, ntshav siab, lossis ntshav siab ntawm qhov muag.
• Phais mob kom tswj tau qhov tsis zoo ntawm pob txha, mob glaucoma, lossis mob raum hnyav (xws li kev hloov raum).

Cov kws kho mob ntawm koj tus menyuam yuav piav qhia txog qhov zoo thiab qhov tsis zoo ntawm txhua txoj kev kho mob rau koj. Kev tswj hwm tus menyuam qhov mob caj ces nyuaj tuaj yeem ua rau koj ntxhov siab heev. Yog li ntawd, tsis txhob yig nug cov lus nug thiab qhia koj qhov kev txhawj xeeb. Ua li ntawd, koj tuaj yeem ntseeg siab txog txoj kev npaj kho mob ntawm koj tus menyuam.

Qhov mob no puas yuav cuam tshuam rau lub neej ntawm tus menyuam?

Feem ntau, tus mob Nail-Patella Syndrome tsis cuam tshuam rau lub neej ntawm ib tus neeg. Txawm li cas los xij, yog tias muaj kab mob raum loj heev, qhov ntawd tuaj yeem hloov pauv. Qhov teeb meem no tuaj yeem cuam tshuam rau qhov kev kwv yees thiab lub neej ntev npaum li cas. Qee tus neeg yuav xav tau kev hloov raum.

Cov mob caj ces xws li Nail-Patella syndrome cuam tshuam rau txhua tus menyuam me ntsis txawv, yog li nws nyuaj rau hais meej tias koj tus menyuam yuav muaj cov tsos mob dab tsi thiab lawv yuav hnyav npaum li cas. Koj tus menyuam cov kws kho mob yuav muaj peev xwm qhia koj ntxiv txog qhov no.

Puas tiv thaiv tau tus mob Nail-Patella syndrome?

Tam sim no tsis muaj ib txoj kev twg uas paub los tiv thaiv tus mob caj ces no. Yog tias koj lossis koj tus khub muaj tus mob Nail-Patella Syndrome, thiab koj tab tom npaj yuav muaj menyuam, nws yog ib lub tswv yim zoo los tham nrog tus kws pab tswv yim txog caj ces . Lawv tuaj yeem pab koj nkag siab txog qhov muaj feem uas koj tus menyuam yuav tau tus mob no.

Thaum twg kuv tus menyuam yuav tsum mus ntsib kws kho mob?

Koj tus menyuam yuav tsum tau mus ntsib kws kho mob ntau zaus. Pab neeg kho mob ntawm koj tus menyuam yuav qhia rau koj paub meej tias yuav tsum mus ntsib kws kho mob twg thiab yuav tsum mus ntsib ntau zaus npaum li cas.

Feem ntau, koj tus menyuam yuav tsum tau kuaj xyuas cov no tsis tu ncua:

• Ntsuas ntshav siab.
• Kev kuaj zis, suav nrog cov uas ntsuas 'albumin-creatinine'.
• Kev kuaj mob glaucoma.
• Kev ntsuam xyuas qhov ceev ntawm cov pob txha.

Cov kws kho mob tuaj yeem pab koj piav qhia txog qhov tseem ceeb ntawm cov kev kuaj no rau koj tus menyuam.

Nws tseem ceeb heev uas yuav tsum tau ua tib zoo saib xyuas koj tus menyuam txoj kev noj qab haus huv ntawm lub hlwb - thiab koj tus kheej. Tej zaum koj tus menyuam yuav txaj muag txog lawv qhov tsos, lossis lawv yuav xav tau kev pab txhim kho lawv txoj kev ntseeg siab rau tus kheej. Koj kuj tseem yuav xav paub tias koj ua tau dab tsi los pab lawv kom lawv xav tias lawv zoo tshaj plaws.

Tham nrog koj tus menyuam cov kws kho mob txog kev sib txuas lus nrog cov pab pawg txhawb nqa, cov kws kho mob hlwb, thiab cov neeg ua haujlwm pabcuam zej zog. Muaj ib pab niam txiv uas muaj kev paub dhau los thiab cov kws tshaj lij kev noj qab haus huv txhawb nqa koj tsev neeg tuaj yeem ua qhov sib txawv loj hauv koj lub neej txhua hnub.

Tus mob nail-patella syndrome no tsis tshua muaj pes tsawg?

Cov kws tshawb fawb kwv yees tias muaj li ib tug ntawm 50,000 tus neeg uas muaj tus mob Nail-Patella Syndrome. Txawm li cas los xij, tej zaum yuav muaj ntau dua vim tias cov neeg uas muaj cov tsos mob me me tsis tau kuaj pom.

Puas muaj lwm lub npe rau qhov no?

"Kab mob Fong" yog lwm lub npe rau Nail-Patella Syndrome. Lub npe no feem ntau siv yav dhau los. Niaj hnub no, ntau tus neeg hu nws Nail-Patella Syndrome.

Lwm lub npe rau tib yam mob no yog "hereditary onycho-osteodysplasia". Cia peb saib lub ntsiab lus ntawm txhua feem ntawm lub npe no:

• "Keeb kwm los ntawm noob caj ces" txhais tau hais tias nws tuaj yeem pom hauv tsev neeg.
• "Onycho" txhais tau tias cov rau tes.
• "Osteo" txhais tau tias pob txha.
• "Dysplasia" txhais tau hais tias muaj kev loj hlob tsis zoo lossis kev loj hlob tsis zoo hauv ib feem ntawm lub cev.

Yog li ntawd, cov yam tseem ceeb tshaj plaws uas yuav tsum nco ntsoov los ntawm qhov peb tau tham txog yog dab tsi?

- ‍ (Nail-Patella Syndrome) , . , . , , . , . ‍ – ‍ – ‍ .

Nco ntsoov tias, kev kuaj pom thaum ntxov thiab kev tswj hwm tus kab mob kom zoo yuav pab tau koj tus menyuam kom muaj lub neej noj qab nyob zoo. Tsis txhob ntshai lossis ntshai heev. Qhov tseem ceeb tshaj plaws yog kev hlub thiab kev nkag siab rau koj tus menyuam thaum ua raws li cov lus qhia ntawm kws kho mob.

` Kab Mob Ntiv Tes-Patella, Cov Kab Mob Genetic, Tes, Lub Hauv Paus, Patella, Kab Mob Raum, LMX1B, Kab Mob Fong, Kev Noj Qab Haus Huv Rau Menyuam Yaus