Isifo seNiemann-Pick

Isifo seNiemann-Pick (i-NPD) siyiqembu lezifo ezidluliswa emindenini (ezuzwe njengefa) lapho izinto ezinamafutha ezibizwa ngama-lipids ziqoqa khona kumaseli obende, isibindi nobuchopho.

Kunezinhlobo ezintathu ezivamile zalesi sifo:

• Thayipha u-A
• Uhlobo B
• Uhlobo C

Uhlobo ngalunye lubandakanya izitho ezahlukene. Kungafaka noma kungabandakanyi uhlelo lwezinzwa nokuphefumula. Ngayinye ingadala izimpawu ezahlukahlukene futhi kungenzeka ngezikhathi ezehlukene kuyo yonke impilo.

Izinhlobo ze-NPD A no-B zenzeka lapho amaseli emzimbeni engenayo i-enzyme ebizwa nge-acid sphingomyelinase (ASM). Le nto isiza ukudiliza (ukugaya ngomzimba) into enamafutha ebizwa nge-sphingomyelin, etholakala kuwo wonke amaseli emzimbeni.

Uma i-ASM ilahlekile noma ingasebenzi kahle, i-sphingomyelin yakha ngaphakathi kwamaseli. Lokhu kubulala amaseli akho futhi kwenze kube nzima ukuthi izitho zisebenze kahle.

Uhlobo A lwenzeka kuzo zonke izinhlanga nezinhlanga. Kuvame kakhulu kuma-Ashkenazi (Eastern Europe) amaJuda.

Uhlobo C lwenzeka lapho umzimba ungakwazi ukwehlukanisa kahle i-cholesterol namanye amafutha (lipids). Lokhu kuholela ku-cholesterol eningi kakhulu esibindi nasesipilini kanye namanye ama-lipids amaningi kakhulu ebuchosheni. Uhlobo C luvame kakhulu kubantu basePuerto Ricans abadabuka eSpain.

Uhlobo C1 luhlukile kohlobo C. Kubandakanya ukukhubazeka okuphazamisa indlela i-cholesterol ehamba ngayo phakathi kwamaseli obuchopho. Lolu hlobo luye lwabonakala kuphela kubantu baseFrance baseCanada e-Yarmouth County, eNova Scotia.

Izimpawu ziyahlukahluka. Ezinye izimo zempilo zingadala izimpawu ezifanayo. Izigaba zokuqala zalesi sifo zingadala kuphela izimpawu ezimbalwa. Umuntu kungenzeka angabi nazo zonke izimpawu.

Uhlobo A luvame ukuqala ezinyangeni ezimbalwa zokuqala zokuphila. Izimpawu zingafaka:

• Ukuvuvukala kwesisu (esiswini) ngaphakathi kwezinyanga ezintathu kuya kwezingu-6
• Indawo ebomvu ye-Cherry ngemuva kweso (ku-retina)
• Ukondla ubunzima
• Ukulahleka kwamakhono okuqala ezimoto (kuba kubi ngokuhamba kwesikhathi)

Izimpawu zohlobo B zivame ukuba maphakathi. Zenzeka ebusheni sekwephuzile noma eminyakeni yobusha. Ukuvuvukala kwesisu kungenzeka ezinganeni ezincane. Cishe abukho ukubandakanyeka kobuchopho nohlelo lwezinzwa, njengokulahleka kwamakhono ezimoto. Ezinye izingane zingase zibe nezifo zokuphefumula eziphindaphindiwe.

Izinhlobo C no-C1 zivame ukuthinta izingane ezifunda isikole. Kodwa-ke, kungenzeka noma ngasiphi isikhathi phakathi kwezinsana zisencane kuze kube semdala. Izimpawu zingafaka:

• Ubunzima bokuhamba kwezitho zomzimba okungaholela ekuhambeni okungazinzile, ekuxakekeni, ezinkingeni zokuhamba
• Ubende obukhulisiwe
• Isibindi esandisiwe
• I-jaundice (noma ngemuva nje) kokuzalwa
• Ubunzima bokufunda nokwehla kwengqondo
• Ukuquleka
• Inkulumo efingqiwe, engajwayelekile
• Ukulahleka okungazelelwe kwetoni yemisipha engaholela ekuweni
• Ukuthuthumela
• Inkinga yokuhambisa amehlo phezulu naphansi

Ukuhlolwa kwegazi noma umnkantsha wethambo kungenziwa ukuxilonga izinhlobo A no-B. Ukuhlolwa kungatshela ukuthi ubani onalesi sifo, kepha akubonisi ukuthi ungumphathi yini. Ukuhlolwa kwe-DNA kungenziwa ukuthola abathwali bohlobo A no-B.

I-biopsy yesikhumba ivame ukwenziwa ukuxilonga izinhlobo C no-D. Umhlinzeki wezokunakekelwa kwempilo ubheka ukuthi amangqamuzana esikhumba akhula kanjani, ahamba kanjani, futhi agcina kanjani i-cholesterol. Ukuhlolwa kwe-DNA kungenziwa futhi ukubheka izakhi zofuzo ezi-2 ezibanga lolu hlobo lwesifo.

Ezinye izivivinyo zingafaka:

• Ukufiswa komnkantsha wethambo
• I-biopsy yesibindi (imvamisa ayidingeki)
• Ukuhlolwa kwesibani sesibani
• Ukuhlolwa ukuhlola izinga le-ASM
  

Ngalesi sikhathi, alukho umuthi osebenzayo wohlobo A.

Ukufakelwa komnkantsha wethambo kungavivinywa ngohlobo B. Abaphenyi bayaqhubeka nokutadisha ukwelashwa okungenzeka, kufaka phakathi ukufaka i-enzyme nokwelashwa kofuzo.

Umuthi omusha obizwa ngokuthi yi-miglustat uyatholakala ngezimpawu zesistimu yezinzwa zohlobo C.

I-cholesterol ephezulu ingalawulwa ngokudla okunempilo, okuphansi kwe-cholesterol noma imithi. Kodwa-ke, ucwaningo alukhombisi ukuthi lezi zindlela zivimba ukuthi lesi sifo singabi sibi kakhulu noma zishintshe ukuthi amaseli adiliza kanjani i-cholesterol. Imithi iyatholakala ukulawula noma ukukhulula izimpawu eziningi, njengokulahleka okungazelelwe kwethoni yemisipha nokuquleka.

Lezi zinhlangano zinganikeza ukwesekwa kanye neminye imininingwane ngesifo i-Niemann-Pick:

• Isikhungo Sikazwelonke Sokukhubazeka Kwezinzwa NeStroke - www.ninds.nih.gov/Disorders/All-Disorders/Niemann-Pick-Disease-Information-Page
• I-National Niemann-Pick Disease Foundation - nnpdf.org
• Inhlangano Kazwelonke Yezinkinga Ezingajwayelekile - rarediseases.org/rare-diseases/niemann-pick-disease-type-c

Uhlobo lwe-NPD A yisifo esibi. Imvamisa iholela ekufeni eneminyaka emibili noma emithathu.

Labo abanohlobo B bangaphila ebuntwaneni sekwedlule isikhathi noma ebudaleni.

Ingane ekhombisa izimpawu zohlobo C ngaphambi kweminyaka yobudala engu-1 kungenzeka ingaphili iminyaka yobudala yesikole. Labo abakhombisa izimpawu ngemuva kokungena esikoleni bangahlala eminyakeni yabo yobudala ephakathi nonyaka. Abanye bangahlala eminyakeni yabo engama-20.

Yenza i-aphoyintimenti nomhlinzeki wakho uma unomlando womndeni wesifo se-Niemann-Pick futhi uhlela ukuba nezingane. Ukwelulekwa nokuhlolwa ngokofuzo kuyanconywa.

Shayela umhlinzeki wakho uma ingane yakho inezimpawu zalesi sifo, kufaka phakathi:

• Izinkinga zentuthuko
• Izinkinga zokondla
• Ukuzuza kwesisindo okubi

Zonke izinhlobo zeNiemann-Pick zisebenza ngokweqile ngokuzimela. Lokhu kusho ukuthi bobabili abazali bangabathwali. Umzali ngamunye unekhophi e-1 yesakhi esingajwayelekile ngaphandle kokuba nezimpawu zesifo uqobo.

Lapho bobabili abazali bengabathwali, kunamathuba angama-25% okuthi ingane yabo ithole lesi sifo kanye namathuba angama-50% okuthi ingane yabo ibe nguthwali.

Ukuhlolwa kokutholwa kwesithwali kungenzeka kuphela uma kutholakala ukukhubazeka kofuzo. Amaphutha athintekayo ezinhlotsheni A no-B afundwe kahle. Ukuhlolwa kwe-DNA kwalezi zinhlobo zeNiemann-Pick kuyatholakala.

Kutholakale ukukhubazeka kofuzo ku-DNA yabantu abaningi abanohlobo C. Kungenzeka ukuthi kuhlolwe abantu abaphethe isakhi esingajwayelekile.

Izikhungo ezimbalwa zinikeza izivivinyo zokuxilonga ingane esesibelethweni.

I-NPD; Ukushoda kweSphingomyelinase; I-Lipid storage disorder - Isifo se-Niemann-Pick; Isifo seLysosomal - Niemann-Pick

• Amaseli we-Niemann-Pick foamy

I-Kliegman RM, iSt. Geme JW, iBlum NJ, i-Shah SS, i-Tasker RC, i-Wilson KM .. Amaphutha ku-metabolism ye-lipids. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Incwadi kaNelson Yezingane. Umhlaka 21. IPhiladelphia, PA: Elsevier; 2020: isahluko 104.

I-Turnpenny PD, u-Ellard S, uCleaver R. Amaphutha wokuzalwa we-metabolism. Ku: Turnpenny PD, Ellard S, Cleaver R, abahleli. Izinto zika-Emery ze-Medical Genetics ne-Genomics. Umhla ka-16. IPhiladelphia, PA: Elsevier; 2022: isahluko 18.