Konke Okufanele Ukwazi Nge-Nail Patella Syndrome

-Delile

• Ziyini izimpawu?
• Izimbangela
• Ixilongwa kanjani i-NPS?
• Izinkinga
• Iphathwa futhi iphathwe kanjani i-NPS?
• Uyini umbono?

Ukubuka konke

I-Nail patella syndrome (i-NPS), kwesinye isikhathi ebizwa nge-Fong syndrome noma i-osteoonychodysplasia eyifa (HOOD), isifo esingajwayelekile sezakhi zofuzo. Ngokuvamile kuthinta izinzipho zeminwe. Kungathinta namalunga emzimbeni wonke, njengamadolo akho, nezinye izinhlelo zomzimba, njengohlelo lwezinzwa nezinso. Qhubeka ufunde ukuze ufunde kabanzi ngalesi simo.

Ziyini izimpawu?

Izimpawu ze-NPS kwesinye isikhathi ziyabonakala zisencane, kepha zingavela kamuva empilweni. Izimpawu ze-NPS zivame ukubonwa ku:

• izinzipho
• amadolo
• Izindololwane
• okhalweni

Amanye amalunga, amathambo nezicubu ezithambile nakho kungathinteka.

Mayelana nabantu abane-NPS banezimpawu ezithinta izinzipho zabo. Lezi zimpawu zingafaka:

• izinzipho ezingekho
• izinzipho ezincane ngokungavamile
• ukushintsha kombala
• uqhekeko lwesipikili olude
• izipikili ezizacile ngokungavamile
• i-lunula emise okonxantathu, okuyingxenye engezansi yesipikili, ngqo ngenhla kwe-cuticle

Ezinye, izimpawu ezingavamile kakhulu, zingafaka:

• uzwane oluncane lwenzakele
• i-patella encane noma emise okungajwayelekile, eyaziwa nangokuthi i-kneecap
• ukufuduka kwamadolo, imvamisa eceleni (ohlangothini) noma ngaphezulu (phezulu)
• ukuphuma emathanjeni naseduze kwedolo
• ukuhlukaniswa kwe-patellar, okwaziwa nangokuthi ukuhlukaniswa kwamadolo
• ububanzi obulinganiselwe bokunyakaza endololwaneni
• arthrodysplasia endololwaneni, okuyisimo sezakhi zofuzo esithinta amalunga
• ukuhlukaniswa kwezindololwane
• i-hyperextension ejwayelekile yamalunga
• Izimpondo ze-iliac, okuyizimbumbulu, eziyindilinga, zamathambo ezivela okhalweni ezivame ukubonakala ezithombeni ze-X-ray
• ukuhlungu obusemhlane
• izintambo eziqinile ze-Achilles
• isisindo semisipha ephansi
• izinkinga zezinso, njenge-hematuria noma i-proteinuria, noma igazi noma amaprotheni emchameni
• izinkinga zamehlo, njenge-glaucoma

Ngokwengeziwe, ngokusho koyedwa, cishe isigamu sabantu abatholakala benesipiliyoni se-NPS patellofemoral. Ukungazinzi kwePatellofemoral kusho ukuthi i-kneecap yakho isukile ekuqondeni okulungile. Kubangela ubuhlungu obungapheli nokuvuvukala emadolweni.

Ubuningi bamaminerali amathambo aphansi kungenye yezimpawu ezingaba khona. Ucwaningo olulodwa lwango-2005 luphakamisa ukuthi abantu abane-NPS banamazinga aphansi ka-8-20 amaphesenti wamaminerali amathambo kunabantu abangenawo, ikakhulukazi ezinqeni.

Izimbangela

I-NPS ayisona isimo esivamile. Ucwaningo lulinganisela ukuthi luyatholakala kubantu ngabanye. Kuyisifo sofuzo futhi kuvame kakhulu kubantu abanabazali noma amanye amalungu omndeni analesi sifo. Uma unalesi sifo, noma yiziphi izingane onazo zizoba nethuba elingamaphesenti angama-50 lokuba nazo zibe nalesi simo.

Kungenzeka futhi ukuthuthukisa lesi simo uma kungekho mzali onaso. Uma lokhu kwenzeka, kungenzeka kubangelwe ukuguqulwa kwesimo se- I-LMX1B gene, yize abacwaningi bengazi kahle ukuthi ukuguquka kuguqula kanjani i-nail patella. Cishe kubantu abanesimo, akekho umzali othwala. Lokho kusho ukuthi abantu abangamaphesenti angama-80 bathola lesi simo komunye wabazali babo.

Ixilongwa kanjani i-NPS?

I-NPS ingatholakala ngezigaba ezahlukahlukene empilweni yakho yonke. I-NPS kwesinye isikhathi ingakhonjwa ku-utero, noma ngenkathi ingane isesibelethweni, kusetshenziswa i-ultrasound ne-ultrasonography. Ezinsaneni, odokotela bangahlola isimo uma bekhomba ama-kneecaps alahlekile noma ama-iliac spur symmetrical spurs.

Kwabanye abantu, odokotela bangathola lesi sifo ngokuhlolwa komtholampilo, ukuhlaziywa komlando womndeni, nokuhlolwa kwelabhorethri. Odokotela bangasebenzisa nokuhlolwa okulandelayo kwe-imaging ukukhomba ukungajwayelekile emathanjeni, emalungeni nasezicutshini ezithambile ezithintwe yi-NPS:

• i-computed tomography (CT)
• Ama-X-ray
• i-magnetic resonance imaging (i-MRI)

Izinkinga

I-NPS ithinta amalunga amaningi emzimbeni wonke futhi ingaholela ezinkingeni eziningi, kufaka phakathi:

• Ingozi eyengeziwe yokwaphuka: Lokhu kungenxa yamathambo aphansi ahambisana namathambo namalunga avame ukuba nezinye izinkinga, njengokungazinzi.
• I-Scoliosis: Intsha ene-NPS isengozini enkulu yokuthola lesi sifo, esidala ijika elingavamile lomgogodla.
• I-Preeclampsia: Abesifazane abane-NPS bangaba nengozi eyengeziwe yokuthola le nkinga enkulu ngesikhathi sokukhulelwa.
• Ukuzwa okungakhubazekile: Abantu abane-NPS bangathola ukuzwela okunciphise izinga lokushisa nobuhlungu. Bangase futhi babe nokundikindiki nokushosheka.
• Izinkinga zamathumbu: Abanye abantu abane-NPS babika ukuqunjelwa kanye nesifo samathumbu esicasulayo.
• I-Glaucoma: Lesi yisifo esibuhlungu lapho ukucindezela kwamehlo okwandayo kulimaza imizwa ye-optic, engaholela ekulahlekelweni umbono okungapheli.
• Izinkinga zezinso: Abantu abane-NPS bavame ukuba nezinkinga ngezinso zabo kanye nohlelo lomchamo. Ezimweni ezimbi kakhulu ze-NPS, ungahle uhlakulele ukwehluleka kwezinso.

Iphathwa futhi iphathwe kanjani i-NPS?

Alikho ikhambi le-NPS. Ukwelashwa kugxile ekuphatheni izimpawu. Ubuhlungu emadolweni, ngokwesibonelo, bungalawulwa ngu:

• imishanguzo yokudambisa izinhlungu efana ne-acetaminophen (Tylenol) nama-opioid
• izingcezu
• izinsimbi
• ukwelashwa ngokomzimba

Ukuhlinzwa okulungiswayo kwesinye isikhathi kuyadingeka, ikakhulukazi ngemuva kokuphuka.

Abantu abane-NPS kufanele futhi baqashwe ngezinkinga zezinso. Udokotela wakho angancoma ukuhlolwa konyaka komchamo ukuqapha impilo yezinso zakho. Uma izinkinga zivela, imithi kanye ne-dialysis kungasiza ukuphatha nokwelapha izingqinamba zezinso.

Abesifazane abakhulelwe abane-NPS bathwala ingozi yokuhlaselwa yi-preeclampsia, futhi kuyaqabukela lokhu kukhule ngemuva kokubeletha. I-Preeclampsia yisimo esibi esingaholela ekuqulekeni kwesinye isikhathi nasekufeni. I-Preeclampsia ibangela ukwanda kwengcindezi yegazi futhi ingatholwa ngokuhlolwa kwegazi nomchamo ukuhlola ukusebenza komzimba ekugcineni.

Ukuqapha ukucindezelwa kwegazi kuyingxenye ejwayelekile yokunakekelwa ngaphambi kokubeletha, kodwa qiniseka ukuthi wazise udokotela wakho uma une-NPS ukuze bazi ngobungozi bakho obandayo balesi simo. Kufanele futhi ukhulume nodokotela wakho nganoma yimiphi imishanguzo oyiphuzayo ukuze bakwazi ukunquma ukuthi yimiphi okuphephile ukuyithatha ngenkathi ukhulelwe.

I-NPS inobungozi be-glaucoma. I-Glaucoma ingatholwa ngokuhlolwa kwamehlo okuhlola ingcindezi esweni lakho. Uma une-NPS, hlela izivivinyo zamehlo ezijwayelekile. Uma uthola i-glaucoma, amaconsi wamehlo enziwe ngemithi angasetshenziswa ukunciphisa ingcindezi. Kungase kudingeke nokuthi ugqoke izibuko zamehlo ezikhethekile zokulungisa. Kwezinye izimo, ukuhlinzwa kungadingeka.

Kukonke, indlela eyahlukene ye-NPS ibalulekile ekwelapheni izimpawu nezinkinga.

Uyini umbono?

I-NPS yisifo esingajwayelekile sezakhi zofuzo, esivame ukuzuzwa njengefa komunye wabazali bakho. Kwezinye izimo, kungumphumela wokuguquka okuzenzakalelayo kufayela le- I-LMX1B isakhi sofuzo. I-NPS ivame ukudala izinkinga kuzipikili, emadolweni, endololwaneni nasesinqeni. Kungathinta nezinhlelo ezahlukahlukene zomzimba ezibandakanya izinso, uhlelo lwezinzwa, nezitho zesisu.

Alikho ikhambi le-NPS, kodwa izimpawu zingalawulwa ngokusebenza nochwepheshe abahlukahlukene. Xhumana nodokotela wakho wokunakekelwa okuyinhloko ukuze uthole ukuthi yimuphi ochwepheshe ongcono kakhulu kwizimpawu zakho ezithile.