Puas yog koj tus menyuam lub raum tsis ua haujlwm zoo? Cia peb paub txog Potter Syndrome no!

Yog koj yog ib leej niam uas yuav yug menyuam, tej zaum koj yuav txhawj txog koj tus menyuam txoj kev noj qab haus huv, puas yog? Nws yog ib qho ib txwm muaj uas koj yuav xav tsis thoob tias koj tus menyuam puas loj hlob zoo hauv plab thiab seb txhua yam puas mus zoo. Hnub no peb yuav tham txog ib qho mob tsis tshua muaj uas tuaj yeem cuam tshuam rau cov menyuam mos. Nws hu ua Potter Syndrome. Tej zaum koj yuav txhawj thaum koj hnov ​​​​​​qhov no, tab sis nws yog ib qho tseem ceeb heev uas yuav tsum paub txog nws.

Hais yooj yim xwb, Potter Syndrome yog dab tsi?

Zoo, cia peb piav qhia me ntsis. Potter syndrome, qee zaum hu ua Potter sequence , yog ib qho mob tsis tshua muaj uas cuam tshuam rau tus menyuam txoj kev loj hlob thaum lawv nyob hauv plab. Qhov ua rau qhov no yog tias tus menyuam lub raum tsis loj hlob zoo lossis lawv txoj haujlwm tsis zoo . Koj puas paub tias thaum tus menyuam nyob hauv plab, muaj ntau cov kua amniotic nyob ib puag ncig lawv. Lub raum ua lub luag haujlwm tseem ceeb hauv kev tswj cov kua amniotic no. Yog li thaum lub raum tsis ua haujlwm zoo, cov kua amniotic no txo ​​qis. Qhov no yog qhov kws kho mob hu ua oligohydramnios.

Tu siab kawg li, tej lub sij hawm tus me nyuam yug los tsis muaj ob lub raum, ib qho mob hu ua "Bilateral Renal Agenesis", uas tuaj yeem ua rau tuag tau. Txawm li cas los xij, qee tus me nyuam yuav muaj sia nyob yog tias lawv cov tsos mob tsis hnyav lossis yog tias qhov poob dej tsis hnyav. Txawm li cas los xij, cov me nyuam no yuav muaj mob ntsws thiab mob raum ntev thaum lawv loj hlob tuaj.

Leej twg yuav raug cuam tshuam los ntawm qhov xwm txheej no tshaj?

Qhov tseeb, tus mob no hu ua Potter syndrome tuaj yeem cuam tshuam rau txhua tus menyuam. Vim tias nws muaj feem cuam tshuam ncaj qha rau cov kua amniotic tsis txaus. Txawm li cas los xij, qee qhov kev tshawb fawb tau pom tias cov menyuam tub muaj feem yuav mob no ntau dua .

Puas yog Potter syndrome no yog los ntawm noob caj noob ces?

Qhov no nyuaj me ntsis. Potter syndrome tsis yog ib yam mob uas muaj los ntawm noob caj noob ces. Txawm li cas los xij, muaj qee yam mob uas ua rau muaj qhov no. Cia peb saib seb lawv yog dab tsi:

• Kab mob raum polycystic: Qhov no tuaj yeem tau txais los ntawm leej niam lossis leej txiv (autosomal dominant) lossis los ntawm ob leeg niam txiv (autosomal recessive). Qhov no ua rau cov cysts tsim nyob rau hauv lub raum.
• Kev puas tsuaj ntawm lub raum: Qhov no yog qhov ua tsis tau ntawm lub raum kom loj hlob. Qee zaum qhov no tuaj yeem tshwm sim los ntawm kev hloov pauv hauv cov noob caj noob ces FGF20 lossis GREB1L. Qhov mob no tuaj yeem tau txais los ntawm kev yug los ntawm autosomal dominant lossis autosomal recessive. Qhov no txhais tau tias tus menyuam yuav tsum tau txais kev hloov pauv los ntawm ib tus niam txiv lossis ob leeg niam txiv.
• Kev hloov pauv caj ces tsis tu ncua: Qee zaum, kev hloov pauv caj ces tsis tu ncua tuaj yeem ua rau muaj tus mob Potter syndrome, txawm tias tsis muaj leej twg hauv tsev neeg tau muaj tus mob no ua ntej los xij.

Tus mob no feem ntau tshwm sim li cas?

Potter syndrome yog ib yam mob tsis tshua muaj . Kwv yees li ntawm 4,000 txog 10,000 tus menyuam mos uas yug los tsuas yog muaj ib tug xwb. Yog li ntawd, tsis txhob ntshai thaum hnov ​​txog nws. Tab sis nws yog ib qho tseem ceeb uas yuav tsum paub txog.

Potter syndrome cuam tshuam li cas rau lub cev ntawm tus menyuam?

Qhov no yog qhov tseem ceeb tshaj plaws. Potter syndrome cuam tshuam rau txoj kev uas tus menyuam lub cev sab hauv, tshwj xeeb tshaj yog lub raum, loj hlob thiab ua haujlwm . Raws li koj paub, lub raum yog cov kabmob tseem ceeb uas tshem tawm cov khoom pov tseg thiab cov kua dej ntxiv ntawm peb lub cev. Thaum tus menyuam nyob hauv plab, lub raum tsim cov zis. Cov zis no rov ua dua tshiab ua cov kua amniotic.

Yog li ntawd, yog tias tus menyuam lub raum tsis ua haujlwm zoo, lawv yuav tsis tsim cov kua amniotic txaus los puag ncig lawv. Cov kua amniotic no yog qhov uas ua rau tus menyuam mos xis nyob. Thaum cov kua no ploj mus, txoj kev uas tus menyuam lub cev thiab lub cev loj hlob raug cuam tshuam. Hauv lwm lo lus, cov kabmob tsis loj hlob tag nrho . Ces cov kabmob ntawd tsis tuaj yeem ua lawv txoj haujlwm kom zoo. Qhov no yog qhov ua rau muaj cov tsos mob txaus ntshai rau lub neej.

Cov tsos mob ntawm Potter syndrome yog dab tsi?

Cov tsos mob ntawm Potter syndrome yuav txawv ntawm ib tug menyuam mus rau ib tug menyuam, thiab qhov hnyav ntawm tus mob yuav txawv. Cov tsos mob no kuj tseem tuaj yeem cuam tshuam rau koj cev xeeb tub, uas tuaj yeem ua rau yug ntxov .

Tsis muaj kua amniotic

Thaum cev xeeb tub, muaj cov kua dej ntshiab daj nyob ib puag ncig tus menyuam. Qhov no yog cov kua amniotic. Qhov no tiv thaiv tus menyuam thiab muab chaw rau nws loj hlob. Nws ua haujlwm ua ib daim thaiv ntawm phab ntsa tsev menyuam thiab tus menyuam. Cov menyuam mos uas muaj Potter syndrome tsis muaj cov kua amniotic no txaus, yog li ntawd qhov siab ntawm phab ntsa tsev menyuam cuam tshuam rau txoj kev loj hlob ntawm tus menyuam.

Cov yam ntxwv tshwj xeeb ntawm lub ntsej muag thiab lub cev

Qhov kev ntxhov siab uas tshwm sim los ntawm qhov tsis muaj kua amniotic cuam tshuam rau txoj kev loj hlob ntawm tus menyuam lub cev. Qhov no tuaj yeem ua rau muaj cov yam ntxwv ntawm lub ntsej muag. Qhov no hu ua "Potter facies" . Cov yam ntxwv no yog:

• Lub puab tsaig tsis loj hlob zoo (zoo li tig rau hauv).
• Muaj ib lub qhov txhab hauv qab daim di ncauj qis.
• Ob lub qhov muag tau teem sib nrug deb.
• Tus choj hauv Naha tau tiaj tiaj.
• Pob ntseg qis thiab pob txha mos hauv pob ntseg tsawg dua.
• Cov tawv nqaij quav rau ntawm cov ces kaum ntawm lub qhov muag.

Qhov kev nyuaj siab no kuj tseem tuaj yeem cuam tshuam rau kev loj hlob ntawm lwm qhov ntawm lub cev ntawm tus menyuam. Piv txwv li:

• Tsis muaj zog ntawm caj npab thiab ceg.
• Tsis muaj peev xwm ncab thiab ncaj cov pob qij txha kom raug, thiab mob nqaij (contractures).
• Tus menyuam qhov loj me me piv rau lub hnub nyoog cev xeeb tub.

Cov noob caj noob ces tsis loj hlob lossis tsis zoo li qub

Cov tsos mob uas cuam tshuam rau cov kabmob yog qhov txaus ntshai tshaj plaws rau lub neej.Hauv Potter syndrome, tus menyuam txoj kev loj hlob raug cuam tshuam, yog li cov kab mob sab hauv tsis tau txais cov lus qhia lossis lub sijhawm uas lawv xav tau los txhim kho kom zoo. Cov tsos mob uas yuav tshwm sim yog:

• Cov mob plawv uas muaj txij thaum yug los.
• Cov kab mob ntawm qhov muag (piv txwv li, cataracts, lens luxation).
• Cov kab mob raum (mob raum tsis ua haujlwm ntev, mob raum tsis ua haujlwm, mob raum polycystic).
• Cov kab mob ntsws (kab mob ntsws ntev, ua pa nyuaj).

Kev loj hlob tsis zoo ntawm lub raum kuj cuam tshuam rau qhov ntau ntawm cov zis uas tus menyuam mos tsim tau. Qhov no kuj yog ib qho tsos mob uas cov kws kho mob nrhiav thaum kuaj mob Potter syndrome.

Dab tsi yog cov ua rau muaj tus mob Potter syndrome?

Muaj ntau yam ua rau muaj tus mob Potter syndrome no:

• Cov raum tsis loj hlob zoo los yog tsis muaj raum.
• Kab mob raum polycystic.
• Kab mob plab Prune (Prune belly syndrome / Eagle-Barrett syndrome)
• Kev thaiv ntawm txoj hlab zis.
• Kev xau ntawm cov kua amniotic vim yog kev tawg ntawm cov membranes.
• Cov mob uas tsis tau tswj hwm hauv leej niam, piv txwv li, ntshav qab zib hom 1.

Cov tsos mob no, tshwj xeeb tshaj yog cov uas cuam tshuam rau lub raum, tshwm sim vim tias tsis muaj kua amniotic txaus hauv plab los puag ncig tus menyuam .

Vim li cas cov kua amniotic no thiaj li txo qis?

Cia peb saib qhov no kom meej me ntsis. Qhov ua rau tseem ceeb yog kev loj hlob tsis zoo ntawm lub raum .

Koj puas paub tias thaum cev xeeb tub, koj tus menyuam nyob hauv cov kua dej ntshiab, daj hu ua amniotic fluid. Cov kua no tiv thaiv koj tus menyuam thiab pab nws loj hlob thoob plaws koj cev xeeb tub? Thaum ntxov ntawm koj cev xeeb tub, cov kua amniotic no yog ua los ntawm cov dej thiab cov as-ham los ntawm koj lub cev. Koj tus menyuam haus cov kua amniotic no. Nruab nrab ntawm lub lis piam 16 thiab 20, koj tus menyuam pib pab txhawb rau cov kua amniotic no. Koj paub li cas? Los ntawm kev tso zis! Koj tus menyuam haus cov kua no thiab tom qab ntawd tso nws tawm ua zis. Qhov no tshwm sim hauv ib lub voj voog.

Yog li ntawd, yog tias koj tus menyuam muaj Potter syndrome, nws cov kab mob tsim zis, uas yog lub raum, tsis tau loj hlob zoo, lossis lawv ploj lawm, lossis lawv tsis ua haujlwm. Vim tias tus menyuam tsis tuaj yeem tso zis, nws tsis tuaj yeem pab txhawb rau qhov ntau ntawm cov kua amniotic uas tiv thaiv nws. Yog vim li cas thiaj muaj cov kua amniotic tsawg dua hauv lub tsev menyuam.

Puas muaj ntau hom mob Potter syndrome sib txawv?

Yog, cov kws kho mob cais cov hom mob Potter syndrome sib txawv, nyob ntawm cov tsos mob uas cuam tshuam rau lub raum.

• Kab mob Classic Potter: Qhov no yog hom mob uas pom ntau tshaj plaws. Nws tshwm sim thaum tus menyuam yug los tsis muaj ob lub raum.
• Potter syndrome hom I:Hom mob no yog tshwm sim los ntawm ib yam mob hu ua polycystic kidney disease, uas tau txais los ntawm niam txiv thiab yog ib yam mob autosomal recessive. Hauv yam mob no, cov cysts tsim nyob rau hauv lub raum.
• Potter syndrome hom II: Hom mob no yog tshwm sim los ntawm kev tsis zoo ntawm kev loj hlob ntawm lub raum uas tshwm sim hauv plab thaum cev xeeb tub.
• Potter syndrome hom III: Qhov no kuj yog los ntawm polycystic kidney disease, zoo li hom I. Txawm li cas los xij, nws yog tau txais los ntawm ib tug niam txiv xwb (Autosomal dominant).
• Potter syndrome hom IV: Hom mob no yog tshwm sim los ntawm kev thaiv ntawm txoj hlab zis (obstructive uropathy) vim yog kev loj hlob tsis zoo ntawm tus menyuam hauv plab.

Yuav kuaj mob Potter syndrome li cas?

Koj tuaj yeem kuaj pom tus mob Potter syndrome thaum cev xeeb tub los ntawm kev kuaj ua ntej yug menyuam . Ib qho cim qhia tias koj yuav muaj tus mob no thaum cev xeeb tub yog tsis muaj kua amniotic nyob ib puag ncig tus menyuam. Koj tus kws kho mob yuav nrhiav qhov no thaum lub sijhawm ultrasound scan. Lawv kuj tseem yuav nrhiav cov tsos mob ntawm lub cev xws li pob qij txha tawv (contractures).

Yog tias qhov no tsis pom ua ntej tus menyuam yug los, tus kws kho mob yuav kuaj lub cev tom qab tus menyuam yug los kom paub seb puas muaj cov tsos mob. Cov tsos mob no suav nrog:

• Cov zis tso tawm tsawg heev.
• Muaj cov yam ntxwv tshwj xeeb ntawm lub ntsej muag.
• Ua pa nyuaj.

Yuav ua li cas thiaj kuaj tau qhov no?

Tus kws kho mob yuav ua ntau yam kev kuaj mob kom paub tseeb tias muaj tus kab mob no:

• Kev kuaj ntshav los ntawm noob caj noob ces kom paub txog cov noob caj noob ces uas ua rau muaj cov tsos mob.
• Tshawb xyuas koj tus menyuam lub ntsws, lub raum, thiab txoj hlab zis nrog kev kuaj duab xws li X-ray, MRI, lossis ultrasound .
• Kev kuaj ntshav lossis zis kom paub cov electrolyte thiab enzyme theem.
• Ib qho kev kuaj echocardiogram los xyuas seb puas muaj cov cim qhia tias muaj kab mob plawv.

Cov kev kho mob rau qhov no yog dab tsi?

Kev kho mob rau Potter syndrome nyob ntawm seb qhov hnyav ntawm cov teeb meem ntawm lub ntsws thiab lub plawv (pulmonary hypoplasia) uas cuam tshuam rau koj tus menyuam, nrog rau cov kev xaiv uas muaj los txhawb koj tus menyuam txoj kev ua haujlwm ntawm lub raum.

Xav txog qhov no, koj tus menyuam uas tab tom loj hlob yuav tsum tau nyob ib puag ncig los ntawm cov kua amniotic thoob plaws lub sijhawm cev xeeb tub kom nws lub ntsws loj hlob zoo. Yog tias tus menyuam lub hauv siab puv ntev dhau, nws yuav poob cov ntaub so ntswg txaus kom muaj sia nyob tom qab yug los.

Kev kho tus menyuam mos uas muaj lub raum tsis ua haujlwm tag nrho tuaj yeem nyuaj heev. Qee zaum, kev kho mob hnyav yog txwv thiab kev kho mob rau cov menyuam mos uas mob hnyav yog siv los ua kom tus menyuam thiab niam txiv nyob ua ke thiab muab kev nplij siab rau tus menyuam.Kev kho mob raws li txoj kev kho mob yuav yog ib qho kev xaiv.

Yog koj tus menyuam tseem muaj sia nyob tom qab yug los, kev kho mob yuav tsom mus rau kev tiv thaiv cov tsos mob uas yuav ua rau tuag taus. Cov kev kho mob no yuav suav nrog:

• Siv cov khoom siv pab ua pa (piv txwv li lub tshuab ua pa ).
• Cov tshuaj txhawb nqa uas pab ua haujlwm ntawm lub ntsws.
• Phais mob kom kho lossis tshem tawm cov khoom thaiv hauv txoj hlab zis.
• Kev phais kom zoo dua qub rau kev pub mis los ntawm kev kho mob IV, txoj raj mis nasogastric, lossis txoj raj mis pub mis.
• Kev ntxuav lub raum yog ib txoj kev kho mob los tshem tawm cov tshuaj lom uas sib sau ua ke hauv cov ntshav vim yog qhov tsis zoo ntawm lub raum. Yog tias kev kho mob ntxuav lub raum tsis ua tiav tom qab ob peb xyoos, tus kws kho mob yuav pom zoo kom hloov lub raum .

Nyob ntawm seb koj tus menyuam raug kuaj pom thaum twg, kev kho mob yuav pib thaum cev xeeb tub. Koj kuj tseem yuav tsim nyog rau kev kho mob tshawb nrhiav, xws li amnioinfusion, uas ntxiv cov kua rau hauv koj lub qhov amniotic kom hloov cov kua dej nyob ib puag ncig koj tus menyuam. Kev kho mob no ua haujlwm zoo tshaj plaws ua ntej 22 lub lis piam ntawm kev cev xeeb tub.

Puas tiv thaiv tau tus mob Potter syndrome no?

Tu siab kawg li, tsis muaj ib txoj kev twg los tiv thaiv tau tus mob Potter syndrome no .

Yog tias kuv tus menyuam muaj tus mob Potter syndrome, kuv yuav tsum xav li cas?

Tsis muaj tshuaj kho tau tus mob Potter syndrome no. Feem ntau, yog tias kuaj pom tus mob no thaum ntxov thaum cev xeeb tub, koj tus kws kho mob tuaj yeem npaj kom yug menyuam tau zoo thiab muab kev kho mob los pab koj tus menyuam kom muaj sia nyob tom qab yug los.

Cov tsos mob ntawm Potter syndrome no muaj kev phom sij rau lub neej. Txawm li cas los xij, tshwj tsis yog tias koj tus menyuam lub ntsws thiab lub raum raug cuam tshuam los ntawm cov tsos mob hnyav, koj tus menyuam yuav muaj kev kwv yees zoo dua me ntsis.

Vim tias kev kho mob pib tam sim ntawd tom qab yug los, tsis yog txhua txoj kev kho mob yuav ua tiav. Lawv yuav tsum tau phais ntau zaus thaum lawv tseem muaj sia nyob.

Tus menyuam uas muaj tus mob Potter syndrome no yuav muaj sia nyob ntev npaum li cas?

Cov menyuam mos uas kuaj pom tias muaj tus kab mob Potter syndrome no yuav muaj lub neej luv heev . Qhov no txawv rau txhua tus, thiab nyob ntawm cov tsos mob. Yog tias cov tsos mob hnyav heev, thiab yog tias kev loj hlob thiab kev ua haujlwm ntawm cov kabmob tseem ceeb xws li lub plawv, lub ntsws, thiab lub raum raug cuam tshuam, qhov kev kwv yees tsis zoo. Feem ntau cov menyuam mos tsis muaj sia nyob ob peb hnub thawj zaug ntawm lub neej . Hauv cov xwm txheej me me, qhov twg cov tsos mob tsis hnyav heev thiab cov kabmob tsis raug cuam tshuam loj heev, lub neej yuav ntev dua me ntsis.

Koj tus kws kho mob yuav nrog koj tham txog tej kev pheej hmoo ntawm kev kuaj mob rau koj tus menyuam, thiab yuav pom zoo kom kho nws kom ntev nws lub neej. Yog tias kev kuaj mob rau koj tus menyuam yog qhov mob hnyav, kev kho mob palliative yuav yog ib txoj hauv kev los pab koj daws qhov kev tu siab ntawm kev poob ib tus neeg koj hlub.Kuj tseem yuav pom zoo kom muaj kev sab laj txog kev tu siab lossis kev poob siab.

Kuv yuav tsum mus ntsib kws kho mob thaum twg?

Yog tias koj pom muaj kev hloov pauv thaum koj cev xeeb tub, tshwj xeeb tshaj yog tias koj tus menyuam tsis txav tom qab txav tau zoo , mus ntsib koj tus kws kho mob tam sim ntawd. Tej zaum koj tus menyuam yuav yug ntxov dua li qhov xav tau. Yog li ntawd, nws yog ib qho tseem ceeb heev uas yuav tsum tau kuaj xyuas ua ntej yug menyuam nrog koj tus kws kho mob kom npaj rau koj tus menyuam yug los.

Kuv yuav tsum nug kuv tus kws kho mob li cas?

Nws yog ib qho ib txwm muaj ntau lo lus nug hauv koj lub siab thaum lub sijhawm zoo li no. Sim nug koj tus kws kho mob cov lus nug no:

• Dab tsi yog qhov ua rau kuv tus menyuam raug kuaj pom tias muaj tus kab mob no?
• Kuv puas yuav tsum tau phais tom qab kuv tus menyuam yug los?
• Cov kev kho mob uas koj pom zoo muaj cov kev phiv dab tsi?
• Yuav ua li cas thiaj yug tau kuv tus menyuam uas muaj tus mob Potter syndrome no tau zoo tshaj?
• Kuv ua tau dab tsi los pab kuv tus menyuam kom dim?

Nws yuav yog ib qho kev paub nyuaj heev thiab mob siab heev rau kev daws cov xov xwm tias koj tus menyuam yuav tsis muaj sia nyob yog tias kuaj pom tias muaj teeb meem txog lub neej. Koj tus kws kho mob yuav ua haujlwm nrog koj kom paub meej tias koj tus menyuam muaj mob. Lawv yuav xyuas kom koj tus menyuam muaj kev nyab xeeb thiab lawv tau txais kev kho mob sai sai kom txo cov tsos mob tom qab yug los.

Thaum kawg, tej yam uas yuav tsum nco ntsoov

Potter Syndrome yog ib qho mob uas ua rau mob siab heev. Thaum koj paub txog qhov no, koj yuav tu siab thiab ntshai heev. Qhov ntawd yog ib qho ib txwm muaj.

• Nco ntsoov tias qhov no yog ib qho xwm txheej tsis tshua muaj .
• Qhov laj thawj tseem ceeb rau qhov no yog tias tus menyuam lub raum tsis loj hlob zoo thiab yog li ntawd muaj cov kua amniotic txo qis .
• Kev kuaj pom thaum ntxov thaum cev xeeb tub yog qhov tseem ceeb .
• Yog tias cov tsos mob hnyav heev, ntau tus menyuam mos yuav tsis muaj sia nyob . Nws nyuaj heev rau paub qhov no, tab sis nws yog ib qho tseem ceeb uas yuav tsum tham txog nws ncaj ncees.
• Koj tsis nyob ib leeg xwb. Koj pab neeg kho mob, tsev neeg, thiab cov phooj ywg yuav txhawb nqa koj thaum lub sijhawm nyuaj no . Tsis txhob yig nrhiav kev pab tswv yim yog tias xav tau.

Peb vam tias cov ntaub ntawv no tau pab koj nkag siab txog tus mob tsis tshua muaj no. Yog tias koj muaj lus nug ntxiv, tsis txhob yig nrog koj tus kws kho mob tham.

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