So wo ba no asaabo ntumi nyɛ adwuma yiye? Momma yɛnhu saa Potter Syndrome yi!

Sɛ woyɛ ɛna a wobɛyɛ ɛna a, ebia wo ba no akwahosan ho haw pii, ɛnte saa? Ɛyɛ ade a ɛfata sɛ wubesusuw sɛ ebia wo ba no nyin yiye wɔ awotwaa no mu ne sɛ ebia biribiara rekɔ so yiye anaa. Ɛnnɛ yɛrebɛka tebea bi a ɛntaa nsi koraa a ebetumi aka nkokoaa ho asɛm. Wɔfrɛ no Potter Syndrome. Ebia sɛ wote eyi a, ɛbɛhaw wo, nanso ɛho hia paa sɛ wuhu.

Sɛ yɛbɛka no tiawa a, dɛn ne Potter Syndrome?

Okay, momma yɛnsɛe no. Potter syndrome, a ɛtɔ mmere bi a wɔfrɛ no Potter sequence , yɛ tebea a ɛntaa nsi a ɛka akokoaa nyin bere a wɔwɔ awotwaa mu no. Nea ɛde eyi ba titiriw ne sɛ akokoaa no asaabo nnyin yiye anaasɛ ɛnyɛ adwuma yiye . So wunim sɛ sɛ akokoaa wɔ awotwaa mu a, nsu pii atwa wɔn ho ahyia. Asaabo no di dwuma kɛse wɔ awotwaa mu nsu yi dodow a wɔma ɛkɔ so no mu. Enti sɛ asaabo no ntumi nyɛ adwuma yiye a, saa asaabo no mu nsu yi dodow so tew. Eyi ne nea nnuruyɛfo frɛ no oligohydramnios.

Awerɛhosɛm ne sɛ, ɛtɔ da bi a wɔwo akokoaa a asaabo abien no nyinaa nni mu, tebea a wɔfrɛ no ``Bilateral Renal Agenesis``, a ebetumi akum no. Nanso, nkokoaa binom betumi atra ase sɛ wɔn yare no ho sɛnkyerɛnne no nyɛ den anaasɛ nsu a wɔhwere no mu nyɛ den a. Nanso, nkokoaa yi betumi anya ahurututu ne asaabo mu yare a enni sabea bere a wɔrenyin no.

Hena na ɛda adi sɛ tebea yi bɛka no kɛse?

Nokwarem no, tebea a wɔfrɛ no Potter syndrome yi betumi aka akokoaa biara. Efisɛ ɛne amniotic nsu a ɛnnɔɔso wɔ abusuabɔ tẽẽ. Nanso nhwehwɛmu ahorow bi ada no adi sɛ nkokoaa mmarima betumi anya saa tebea yi kakra .

So Potter yare no fi awosu mu?

Eyi yɛ nea ɛyɛ den kakra. Potter syndrome nyɛ awosu mu tebea. Nanso, tebea horow bi wɔ hɔ a ebetumi de aba. Momma yɛnhwɛ nea wɔyɛ:

• Polycystic kidney disease: Eyi betumi afi ɛna no anaa agya no hɔ (autosomal dominant) anaasɛ awofo baanu no nyinaa hɔ (autosomal recessive). Eyi ma asaabo mu ntini a ɛyɛ kurukuruwa ba asaabo no mu.
• Renal agenesis: Eyi ne asaabo no a entumi nnyin. Ɛtɔ mmere bi a eyi betumi afi nkwaadɔm mu nsakrae a ɛba awosu mu nkwaadɔm FGF20 anaa GREB1L mu. Wobetumi anya saa tebea yi fi awo mu wɔ autosomal dominant anaasɛ autosomal recessive kwan so. Eyi kyerɛ sɛ ɛsɛ sɛ akokoaa no nya awosu mu nsakrae yi fi awofo biako anaa wɔn baanu nyinaa hɔ.
• Awosu mu nsakrae a ɛba bere ne bere mu: Ɛtɔ mmere bi a, awosu mu nsakrae a ɛba kwa no betumi ama Potter yare no aba, sɛ mpo obiara nni abusua no mu nnyaa tebea no bi pɛn a.

Saa tebea yi abu so dɛn?

Potter syndrome yɛ tebea a ɛntaa nsi koraa . Wobu akontaa sɛ saa tebea yi ka nkokoaa 4,000 kosi 10,000 biara mu biako pɛ. Enti mma wo ho nnyɛ wo hu denam ho asɛm a wobɛte so. Nanso ɛho hia sɛ yɛma yɛn ani da hɔ.

Ɔkwan bɛn so na Potter syndrome ka akokoaa nipadua?

Eyi ne ade a ɛho hia sen biara. Potter syndrome ka ɔkwan a akokoaa no mu akwaa, titiriw asaabo, nyin na ɛyɛ adwuma . Sɛnea wunim no, asaabo yɛ akwaa a ɛho hia a eyi nneɛma fĩ ne nsu a ɛboro so fi yɛn nipadua mu. Sɛ akokoaa no wɔ awotwaa mu a, asaabo no ma nsu. Wɔsan de saa nsu yi di dwuma sɛ amniotic fluid.

Enti, sɛ akokoaa no asaabo ntumi nyɛ adwuma yiye a, ɛrennya nsu a ɛdɔɔso a ɛbɛtwa akokoaa no ho ahyia. Saa nsu a ɛwɔ akokoaa no mu yi na ɛma akokoaa no yɛ mmerɛw. Sɛ saa nsu yi yera a, ɛka ɔkwan a akokoaa no akwaa ne ne nipadua no fa so nyin. Ɔkwan foforo so no, akwaa ahorow no nnyin koraa . Afei saa akwaa ahorow no ntumi nyɛ wɔn nnwuma yiye. Eyi na ɛde sɛnkyerɛnne ahorow a ɛde nkwa to asiane mu ba.

Dɛn ne Potter syndrome ho sɛnkyerɛnne ahorow?

Potter syndrome ho sɛnkyerɛnne betumi ayɛ soronko wɔ akokoaa biara mu, na ɛsono sɛnea tebea no mu yɛ den. Saa sɛnkyerɛnne ahorow yi nso betumi aka wo nyinsɛn no, na ebetumi ama woawo ntɛm .

Nsu a ɛwɔ awotwaa mu a enni hɔ

Wɔ nyinsɛn mu no, nsu bi a emu da hɔ na ɛyɛ kɔkɔɔ atwa akokoaa no ho ahyia. Eyi ne nsu a ɛwɔ awotwaa mu no. Eyi bɔ akokoaa no ho ban na ɛma otumi nyin. Ɛyɛ adwuma sɛ akwanside wɔ awotwaa no fasu ne akokoaa no ntam. Nkokoaa a wɔwɔ Potter syndrome no nni saa awotwaa mu nsu yi a ɛdɔɔso, enti nhyɛso a efi awotwaa no fasu mu no ka ɔkwan a akokoaa no fa so nyin.

Anim ne nipadua no mu nneɛma titiriw

Nhyɛso a akokoaa no mu nsu a enni hɔ de ba no ka ɔkwan a akokoaa no nipadua fa so nyin. Eyi betumi ama obi anya anim tebea pɔtee bi. Wɔfrɛ eyi "Potter facies" . Saa nneɛma yi ne:

• Abɔnten no nnyin yiye (ɛte sɛ nea wɔadan akɔ mu).
• Sɛ wowɔ nwi a ɛwɔ anofafa a ɛwɔ fam no ase.
• Wɔde aniwa no asi akyirikyiri.
• Adaka a ɛwɔ Naha no yɛɛ petee.
• Aso a ɛba fam ne ntini a ɛwɔ aso no mu a ɛso atew.
• Wora no bobɔw wɔ aniwa no ntwea so.

Saa nhyɛso yi nso betumi aka sɛnea akokoaa no nipadua no afã afoforo nyin. Nhwɛsoɔ:

• Nsa ne anan a ɛyɛ tiaa.
• Nkwaa a wontumi ntrɛw mu na ɛnteɛ yiye, ne nea ɛyɛ den (contractures).
• Sɛ wɔde toto mfe a akokoaa no adi ho a, ne kɛse sua.

Akwaa a ennyaa nkɔso anaasɛ ennyaa nkɔso

Nsɛnkyerɛnne a ɛka akwaa ahorow no na ɛde nkwa to asiane mu sen biara.. Wɔ Potter syndrome mu no, ɛka akokoaa no nyin, enti emu akwaa no nnya akwankyerɛ anaa bere a ehia na ama anyin yiye no. Nsɛnkyerɛnne a ebetumi aba esiane eyi nti ne:

• Koma mu tebea horow a wonya fi awo mu.
• Aniwa mu nyarewa (e.g. aniwa a ɛyɛ mmerɛw, aniwa a ɛtwetwe).
• Asaabo mu nyarewa (asaabo a entumi nyɛ adwuma yiye, asaabo a ɛyɛ agenesis, asaabo mu yare a ɛyɛ polycystic).
• Ahurututu mu nyarewa (ahurututu mu yare a enni sabea, ɔhome mu haw).

Asaabo nyin a ɛnteɛ nso ka nsu dodow a abofra a wɔawo no foforo betumi ayɛ. Eyi nso yɛ sɛnkyerɛnne a nnuruyɛfo hwehwɛ bere a wɔrehu Potter yare no.

Dɛn ne nneɛma a ɛde Potter syndrome ba?

Nneɛma pii wɔ hɔ a ebetumi ama obi anya Potter yare no. Wɔne:

• Asaabo a ennyin yiye anaasɛ enni asaabo biara.
• Polycystic asaabo mu yare.
• Prune yafunu mu yare (Prune yafunu mu yare / Eagle-Barrett yare) .
• Nsuo kwan a ɛsiw.
• Amniotic nsu a ɛtwetwe esiane ntini a ɛpaapae nti.
• Ayaresa tebea horow a wontumi nni so wɔ ɛna no mu, sɛ nhwɛso no, asikreyare a ɛto so 1.

Saa sɛnkyerɛnne ahorow yi, titiriw nea ɛka asaabo no, ba efisɛ nsu a ɛwɔ awotwaa no mu a ɛdɔɔso nni awotwaa no mu a ɛbɛtwa akokoaa no ho ahyia .

Dɛn nti na saa nsu a ɛwɔ awotwaa mu yi so retew?

Momma yɛnhwɛ eyi mu nkɔ akyiri kakra. Nea ɛde ba titiriw ne asaabo no nyin a ɛnteɛ .

So wunim sɛ wɔ nyinsɛn mu no, wo ba no sensɛn nsu a emu da hɔ na ɛyɛ kɔkɔɔ a wɔfrɛ no amniotic fluid mu. Saa nsu yi bɔ wo ba no ho ban na ɛboa ma onyin wɔ wo nyinsɛn no nyinaa mu? Wɔ wo nyinsɛn no mfiase no, nsu ne aduannuru a efi wo nipadua mu na ɛyɛ saa awotwaa mu nsu yi. Wo ba no nom saa nsu a ɛwɔ awotwaa mu yi. Wɔ adapɛn 16 ne 20 ntam no, wo ba no fi ase boa saa awotwaa mu nsu yi. Wobɛyɛ dɛn ahu? Ɛdenam nsu a wɔtow so! Wo ba no nom saa nsu yi na afei ɔde ma sɛ nsu. Eyi si wɔ kyinhyia bi mu.

Enti, sɛ wo ba no wɔ Potter syndrome a, n’akwaa a ɛyɛ nsu a ɛyɛ asaabo no nnyin yiye, anaasɛ enni hɔ, anaasɛ ɛnyɛ adwuma. Esiane sɛ akokoaa no ntumi ntow nsu nti, ontumi mmoa mma nsu a ɛwɔ awotwaa mu a ɛbɔ ne ho ban no dodow. Ɛno nti na amniotic nsu kakraa bi na ɛwɔ awotwaa no mu no.

So Potter syndrome ahorow ahorow wɔ hɔ?

Yiw, nnuruyɛfo kyerɛ nsonsonoe a ɛda Potter syndrome ahorow mu, a egyina sɛnkyerɛnne ahorow a ɛka asaabo no so.

• Classic Potter syndrome: Eyi ne nea abu so sen biara. Ɛba bere a wɔwo akokoaa a onni asaabo abien no nyinaa.
• Potter syndrome a ɛyɛ ɔkwan a wɔfa so yɛ I:Saa tebea yi fi tebea bi a wɔfrɛ no polycystic kidney disease, a wonya fi awofo baanu no nyinaa hɔ na ɛyɛ autosomal recessive tebea. Wɔ tebea yi mu no, asaabo no mu ntini a ɛyɛ kurukuruwa ba.
• Potter syndrome type II: Saa yare yi fi asaabo nyin a ɛnteɛ a ɛba wɔ awotwaa mu bere a wɔyem no.
• Potter syndrome type III: Eyi nso fi polycystic kidney disease, te sɛ type I. Nanso, wonya fi ɔwofo biako pɛ hɔ (Autosomal dominant).
• Potter syndrome type IV: Saa yare yi fi nsu a ɛkɔ nipadua no mu a ɛsiw (obstructive uropathy) esiane akokoaa no nyin a ɛnteɛ wɔ awotwaa mu nti.

Ɔkwan bɛn so na wohu Potter yare no?

Wobetumi ahu Potter syndrome bere a wɔyem denam nhwehwɛmu a wɔyɛ ansa na wɔawo so . Nsɛnkyerɛnne biako a ɛkyerɛ sɛ ebia wubenya saa tebea yi bere a woanyinsɛn ne nsu a ɛwɔ awotwaa mu a enni akokoaa no ho. Wo duruyɛfo bɛhwehwɛ eyi bere a wɔreyɛ ultrasound scan no. Wɔbɛhwehwɛ nipadua mu sɛnkyerɛnne te sɛ nkwaa a ɛyɛ den (contractures) nso.

Sɛ wɔanhu eyi ansa na wɔrewo akokoaa no a, oduruyɛfo no bɛyɛ nipadua mu nhwehwɛmu wɔ akokoaa no awo akyi de ahwɛ sɛ yare no ho sɛnkyerɛnne bi wɔ hɔ anaa. Saa sɛnkyerɛnne ahorow yi bi ne:

• Nsu a ɛba fam koraa.
• Anim afã pɔtee bi a wobenya.
• Ɔhome a ɛyɛ den.

Sɔhwɛ ahorow bɛn na wɔyɛ de si eyi so dua?

Oduruyɛfo no betumi ayɛ nhwehwɛmu ahorow pii de akyerɛ sɛ wɔahu sɛ ɔwɔ yare no:

• Awosu mu mogya mu nhwehwɛmu de hu awosu mu abɔde a ɛde sɛnkyerɛnne ahorow ba.
• Fa mfoninitwa nhwehwɛmu te sɛ X-ray, MRI, anaa ultrasound hwɛ wo ba no ahurututu, n’asaabo, ne ne nsu mu .
• Mogya anaa nsu mu nhwehwɛmu de hwɛ sɛnea electrolyte ne enzyme dodow te.
• Echocardiogram nhwehwɛmu a wɔde hwɛ sɛ ebia komayare ho sɛnkyerɛnne bi wɔ hɔ anaa.

Dɛn ne ayaresa ahorow a wɔde sa eyi?

Potter syndrome ho ayaresa gyina sɛnea ahurututu ne koma mu nsɛnnennen (pulmonary hypoplasia) a ɛka wo ba no mu yɛ den, ne akwan horow a wobetumi afa so aboa wo ba no asaabo dwumadi so.

Susuw ho hwɛ, ɛsɛ sɛ wɔde amniotic nsu twa wo ba a ɔrenyin no ho hyia wɔ nyinsɛn no nyinaa mu na ama n’ahurututu anyin yiye. Sɛ akokoaa no koko mu yɛ ma kyɛ dodo a, ebetumi ahwere ahurututu mu ntini a ɛdɔɔso a ɛbɛma watumi atra ase wɔ awo akyi.

Abofra a wɔawo no foforo a n’asaabo a entumi nyɛ adwuma koraa a wɔbɛsa no betumi ayɛ den yiye. Wɔ tebea horow bi mu no, ayaresa a emu yɛ den a wɔde wɔn ho hyɛ mu no sua na wɔde akokoaa a wɔawo no foforo a wɔde wɔn ho hyɛ mu a ɛma akokoaa no ne awofo bom na wɔma akokoaa no werɛ.Ebia ɔkwan a wɔfa so sa yare no bɛyɛ ɔkwan a wobetumi afa so.

Sɛ wo ba no nya nkwa wɔ awo akyi a, ayaresa no bɛtwe adwene asi sɛnkyerɛnne ahorow a ɛde ne nkwa to asiane mu a wobesiw ano so titiriw. Ebia ayaresa ahorow yi bi ne:

• Nnwinnade a wɔde boa ahome a wɔde di dwuma (e.g. mframa a wɔde ma ).
• Nnuru a ɛboa a ɛboa ma ahurututu yɛ adwuma.
• Oprehyɛn a wɔyɛ de siesie anaasɛ woyi nneɛma a asiw wɔ nsu a ɛkɔ nsu mu no fi hɔ.
• Oprehyɛn a wɔbɛyɛ de ama aduan a wɔde ma atu mpɔn denam IV aduannuru ayaresa, nasogastric tube, anaa aduan a wɔde ma so.
• Dialysis yɛ aduru a wɔde yi awuduru a ɛboaboa ano wɔ mogya no mu esiane asaabo a ɛnyɛ ne kwan so nti no fi hɔ. Sɛ dialysis ayaresa no antumi anyɛ yiye wɔ mfe pii akyi a, oduruyɛfo no betumi akamfo akyerɛ sɛ wɔmfa asaabo foforo nsi hɔ .

Ɛdenam bere a wobehu sɛ wo ba no anya yare no so no, wobetumi afi ase sa yare no bere a wanyinsɛn no. Ebia wobɛfata nso sɛ wonya ayaresa a wɔde yɛ nhwehwɛmu, te sɛ amnioinfusion, a ɛde nsu ka wo amniotic cavity ho de si nsu a atwa wo ba no ho ahyia no ananmu. Saa ayaresa yi yɛ adwuma yiye ansa na nyinsɛn no adi adapɛn 22.

So wobetumi asiw Potter yare no ano?

Nea ɛyɛ awerɛhow no, ɔkwan biara nni hɔ a wɔbɛfa so asiw Potter syndrome ano .

Sɛ me ba no wɔ Potter syndrome a, dɛn na ɛsɛ sɛ mehwɛ kwan?

Aduru biara nni hɔ a wɔde sa Potter yare no. Mpɛn pii no, sɛ wohu tebea no ntɛm wɔ nyinsɛn mu a, wo duruyɛfo betumi ayɛ nhyehyɛe ama awo a ahobammɔ wom na wama wo ayaresa de aboa wo ba ma wanya nkwa wɔ awo akyi.

Potter syndrome ho sɛnkyerɛnne ahorow no de nkwa to asiane mu. Nanso, gye sɛ yare no ho sɛnkyerɛnne no aka wo ba no ahurututu ne n’asaabo kɛse a, ebia wo ba no benya nkɔmhyɛ a eye kakra.

Esiane sɛ wofi ase sa yare wɔ awo akyi pɛɛ nti, ɛnyɛ ayaresa no nyinaa na edi mu. Ebia ɛsɛ sɛ wɔyɛ wɔn oprehyɛn pii wɔ wɔn nkwa nna mu.

Dɛn ne akokoaa a ɔwɔ Potter syndrome nkwa nna?

Nkokoaa a wɔahu sɛ wɔwɔ Potter syndrome betumi anya nkwa nna tiaa koraa . Eyi yɛ soronko ma obiara, na egyina sɛnkyerɛnne ahorow no so. Sɛ sɛnkyerɛnne ahorow no mu yɛ den, na sɛ akwaa atitiriw te sɛ koma, ahurututu, ne asaabo nyin ne ne dwumadi ka a, nkɔmhyɛ no nyɛ papa. Nkokoaa dodow no ara ntra ase wɔ wɔn nkwa nna kakraa a edi kan no mu . Wɔ tebea horow a emu nyɛ den mu, baabi a yare no ho sɛnkyerɛnne no mu nyɛ den saa na akwaa ahorow no nka kɛse no, nkwa nna no betumi akyɛ kakra.

Wo duruyɛfo no ne wo bɛka asiane ahorow a ɛwɔ wo ba a wobehu no mu no ho asɛm, na ɔbɛkamfo ayaresa ahorow a ɛbɛma ne nkwa nna akyɛ akyerɛ wo. Sɛ wo ba no yare no yɛ aniberesɛm a, ebia ɔhwɛ a wɔde ma wo ba no bɛyɛ ɔkwan a ɛbɛboa wo ma woagyina awerɛhow a wudi bere a wo dɔfo bi awu no ano.Awerɛhow anaa awerɛhowdi ho afotu nso betumi akamfo akyerɛ.

Bere bɛn na ɛsɛ sɛ mekɔ oduruyɛfo nkyɛn?

Sɛ wuhu nsakrae biara wɔ wo nyinsɛn no mu, titiriw sɛ wo ba no gyae kankyee mpofirim bere a watu yiye akyi a , kɔ wo duruyɛfo nkyɛn ntɛm ara. Ebia wɔbɛwo wo ba no ntɛm asen sɛnea na wɔhwɛ kwan. Enti, ɛho hia yiye sɛ wo ne wo duruyɛfo yɛ nhwehwɛmu daa ansa na woawo de asiesie wo ho ama wo ba no awo.

Nsɛm bɛn na ɛsɛ sɛ mibisa me duruyɛfo?

Ɛyɛ ade a ɛfata sɛ wubenya nsɛmmisa pii wɔ w’adwene mu wɔ bere a ɛte sɛɛ mu. Bɔ mmɔden sɛ wubebisa wo duruyɛfo nsɛm yi:

• Dɛn ne ade titiriw a ɛma wohu sɛ me ba no anya yare no?
• So ɛho behia sɛ wɔyɛ me oprehyɛn bere a wɔawo me ba no akyi?
• Dɛn ne ayaresa ahorow a wokamfo kyerɛe no mu nsunsuanso bɔne?
• Ɔkwan bɛn na ahobammɔ wom sen biara a mɛfa so awo me ba a ɔwɔ Potter syndrome?
• Dɛn na metumi ayɛ de aboa me ba ma wanya nkwa?

Ebetumi ayɛ osuahu a ɛyɛ awerɛhow kɛse na ɛyɛ den sɛ wubedi amanneɛbɔ a ɛne sɛ ebia wo ba no rennya nkwa wɔ yare a ɛde ne nkwa to asiane mu no ho dwuma. Wo duruyɛfo ne wo bɛyɛ adwuma abɛn de ahu sɛnea wo ba no anya yare no. Wɔbɛhwɛ sɛ wo ba no nni ahobammɔ na wɔanya ayaresa ntɛm ara na ama yare no ho sɛnkyerɛnne no afi hɔ wɔ awo akyi.

Nea etwa to no, nneɛma a ɛsɛ sɛ yɛkae

Potter Syndrome yɛ tebea a ɛyɛ awerɛhow ankasa. Sɛ wote ho asɛm a, ebia wobɛte awerɛhow kɛse na ehu aka wo. Ɛno yɛ ade a ɛfata.

• Kae sɛ eyi yɛ tebea a ɛntaa nsi koraa .
• Nea enti titiriw a ɛte saa ne sɛ akokoaa no asaabo nnyin yiye ma enti nsu a ɛwɔ awotwaa mu no so tew .
• Sɛ́ wobehu no ntɛm bere a wɔyem no ho hia .
• Sɛ yare no ho sɛnkyerɛnne no mu yɛ den a, nkokoaa pii rennya nkwa . Ɛyɛ den yiye sɛ wubehu eyi, nanso ɛho hia sɛ woka ho asɛm nokwarem.
• Ɛnyɛ wo nko ara. W’aduruyɛfo kuw, w’abusua, ne wo nnamfo bɛboa wo wɔ bere a emu yɛ den yi mu . Mma ntwentwɛn wo nan ase sɛ wobɛhwehwɛ afotu sɛ ɛho hia a.

Yɛwɔ anidaso sɛ saa nsɛm yi aboa wo ma woanya tebea a ɛntaa nsi yi ho ntease bi. Sɛ wowɔ nsɛmmisa foforo biara a, ntwentwɛn wo nan ase sɛ wo ne wo duruyɛfo bɛkasa.

` Potter syndrome, Potter syndrome, akokoaa, asaabo, amniotic nsu, nyinsɛn, sɛnkyerɛnne, ayaresa