Isifo seNiemann-Pick

Isifo se-Niemann-Pick (i-NPD) liqela lezifo ezidluliselwe kwiintsapho (ezizuzwe njengelifa) apho izinto ezinamafutha ezibizwa ngokuba zii-lipids ziqokelela kwiiseli zepeni, isibindi kunye nengqondo.

Zintathu iindlela zesi sifo:

• Uhlobo lwe-A
• Uhlobo B
• Uhlobo C

Uhlobo ngalunye lubandakanya amalungu ahlukeneyo. Inokuthi okanye ingabandakanyi inkqubo yeemvakalelo kunye nokuphefumla. Nganye inokubangela iimpawu ezahlukeneyo kwaye inokwenzeka ngamaxesha ahlukeneyo ebomini.

Iindidi ze-NPD A kunye no-B zenzeka xa iiseli emzimbeni zingenayo i-enzyme ebizwa ngokuba yi-acid sphingomyelinase (ASM). Le nto inceda ukwahlula (ukucola) into enamafutha ebizwa ngokuba yi-sphingomyelin, efumaneka kwiseli nganye emzimbeni.

Ukuba i-ASM ilahlekile okanye ayisebenzi ngokufanelekileyo, i-sphingomyelin yakha ngaphakathi kweeseli. Oku kubulala iiseli zakho kwaye kwenza kube nzima ukuba amalungu asebenze ngokufanelekileyo.

Uhlobo A lwenzeka kuzo zonke iintlanga kunye nobuhlanga. Kuqheleke ngakumbi kubemi bama-Ashkenazi (eMpuma Yurophu).

Uhlobo C lwenzeka xa umzimba ungakwazi ukwahlula kakuhle i-cholesterol kunye namanye amafutha (lipids). Oku kukhokelela kwi-cholesterol eninzi kwisibindi kunye ne-spleen kunye nezinye iip lipids kwingqondo. Uhlobo C luxhaphake kakhulu phakathi kwePuerto Ricans yemvelaphi yaseSpain.

Uhlobo lweC1 luhlobo olwahlukileyo C. Kubandakanya isiphene esiphazamisa indlela i-cholesterol ehamba ngayo phakathi kweeseli zengqondo. Olu hlobo lubonakale kuphela kubantu baseFrance baseCanada kwiYarmouth County, Nova Scotia.

Iimpawu ziyahluka. Ezinye iimeko zempilo zinokubangela iimpawu ezifanayo. Amanqanaba okuqala esi sifo anokubangela kuphela iimpawu ezimbalwa. Umntu akanakuze abe nazo zonke iimpawu.

Uhlobo A luhlala luqala kwiinyanga zokuqala zobomi. Iimpawu zingabandakanya:

• Isisu (indawo yesisu) ukudumba ngaphakathi kweenyanga ezi-3 ukuya kwezi-6
• Indawo ebomvu ye-Cherry ngasemva kweliso (kwi-retina)
• Ubunzima bokutya
• Ukuphulukana nezakhono zokuqala zemoto (iba mbi ekuhambeni kwexesha)

Iimpawu zohlobo B zihlala ziba mandundu. Zenzeka ebusheni okanye kwiminyaka yeshumi elivisayo. Ukudumba kwesisu kunokwenzeka kubantwana abancinci. Phantse akukho buchopho kunye nokubandakanyeka kwenkqubo yemithambo-luvo, njengokulahleka kwezakhono zemoto. Abanye abantwana banokuba nezifo zokuphefumla eziphindaphindiweyo.

Iindidi C no-C1 zihlala zichaphazela abantwana abakwiminyaka yokuhamba isikolo. Nangona kunjalo, inokwenzeka nanini na phakathi kobuntwana ukuya ebuntombini. Iimpawu zingabandakanya:

• Kunzima ukuhambisa imilenze enokuthi ikhokelele ekungazinzini, ukungabi namandla, iingxaki zokuhamba
• Ipeni eyandisiweyo
• Ukwandiswa kwesibindi
• I-jaundice (okanye kungekudala emva) kokuzalwa
• Ubunzima bokufunda kunye nokwehla kwengqondo
• Ukuxhuzula
• Intetho egudileyo, engaqhelekanga
• Ukuphulukana ngesiquphe kwethoni yezihlunu ezinokuthi zikhokelele ekuweni
• Iinyikima
• Ingxaki yokuhambisa amehlo phezulu naphantsi

Uvavanyo lomongo wegazi okanye lomongo wethambo lunokwenziwa ukufumanisa iintlobo A no-B. Uvavanyo lunokuxela ukuba ngubani onesifo, kodwa alubonakalisi ukuba usiphethe na. Uvavanyo lwe-DNA lunokwenziwa ukufumanisa abathwali beentlobo A kunye no-B.

I-biopsy yolusu ihlala isenziwa ukufumanisa iintlobo C no-D. Umboneleli wezempilo ujonge indlela iiseli zolusu ezikhula ngayo, ezihamba ngayo, kunye nokugcina i-cholesterol. Uvavanyo lwe-DNA lunokwenziwa ukujonga ii-genes ezi-2 ezibangela olu hlobo lwesifo.

Olunye uvavanyo lunokubandakanya:

• Umnqweno wethambo
• I-biopsy yesibindi (ihlala ingafuneki)
• Uvavanyo lwesibane sesibane
• Uvavanyo lokujonga inqanaba leASM
  

Okwangoku, akukho lonyango lusebenzayo kuhlobo A.

Ukufakelwa komongo wethambo kunokuvavanywa kuhlobo B. Abaphandi bayaqhubeka nokufunda unyango olunokubakho, kubandakanya ukutshintshwa kwe-enzyme kunye nonyango lwemfuza.

Iyeza elitsha elibizwa ngokuba yimiglustat liyafumaneka kwiimpawu zenkqubo luvo yohlobo C.

I-cholesterol ephezulu inokulawulwa ngokutya okunempilo, okuphantsi kwe-cholesterol okanye amayeza. Nangona kunjalo, uphando alubonisi ukuba ezi ndlela zithintela isifo ukuba sibi okanye sitshintshe indlela iiseli ezonakalisa ngayo i-cholesterol. Amayeza ayafumaneka ukulawula okanye ukukhulula iimpawu ezininzi, njengokulahleka ngesiquphe kwethoni yezihlunu kunye nokuxhuzula.

Le mibutho inokubonelela ngenkxaso kunye nolwazi oluthe kratya ngesifo sikaNiemann-Pick:

• IZiko leLizwe leZiphazamiso ze-Neurological and Stroke- www.ninds.nih.gov/Disorders/All-Disorders/Niemann-Pick-Disease-Information-Page
• Isiseko seSizwe seNiemann-Pick Disease Foundation - nnpdf.org
• Umbutho weSizwe woNxunguphalo oluNqabileyo-ararediseases.org/rare-diseases/niemann-pick-disease-type-c

Uhlobo lwe-NPD A sisifo esibi. Ihlala ikhokelela ekufeni xa uneminyaka emi-2 okanye emi-3.

Abo banodidi B banokuhlala kude kube sebuntwaneni okanye ebudaleni.

Umntwana obonakalisa iimpawu zohlobo C ngaphambi kweminyaka yobudala 1 akanakuphila kwiminyaka yobudala besikolo. Abo babonisa iimpawu emva kokungena esikolweni banokuhlala kwiminyaka yabo yokufikelela kwiminyaka yeshumi elivisayo. Abanye banokuhlala kwi-20 yabo.

Yenza idinga nomnikezeli wakho ukuba unembali yosapho ngesifo sikaNiemann-Pick kwaye uceba ukuba nabantwana. Kuyacetyiswa ukuba kunikwe ingcebiso malunga nokofuzo.

Biza umnikezeli wakho ukuba umntwana wakho uneempawu zesi sifo, kubandakanya:

• Iingxaki zophuhliso
• Iingxaki zokondla
• Ukutyeba ubunzima

Zonke iindidi zeNiemann-Pick zi-autosomal recessive. Oku kuthetha ukuba bobabini abazali bangabathwali. Umzali ngamnye unekopi enye yohlobo olungaqhelekanga ngaphandle kokubonakalisa iimpawu zesifo ngokwabo.

Xa bobabini abazali bephethe, kukho iipesenti ezingama-25 zokuba umntwana wabo abe nesifo kunye neepesenti ezingama-50 zokuba umntwana wabo abe sisiphatho.

Uvavanyo lokuchongwa kwesiphatho lunokwenzeka kuphela ukuba kuchazwe isiphene semfuza. Iziphene ezichaphazelekayo kwiindidi A no-B ziye zafundwa kakuhle. Uvavanyo lwe-DNA kwezi fomu zeNiemann-Pick ziyafumaneka.

Iziphene zemfuza zichongiwe kwi-DNA yabantu abaninzi abanoluhlobo C. Kusenokwenzeka ukuba kufunyaniswe abantu abaphethe imfuza engaqhelekanga.

Amaziko ambalwa anikezela ngeemvavanyo zokufumanisa ukuba umntwana usesesibelekweni.

NPD; Ukusilela kweSphingomyelinase; Ingxaki yokugcina i-Lipid - isifo se-Niemann-Pick; Isifo seLysosomal - uNiemann-Pick

• Iiseli ezinamagwebu ze-Niemann-Pick

Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM .. Iziphene kwimetabolism ye lipids. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, ii-eds. Incwadi kaNelson yeNcwadi yePediatrics. Umhla wama-21. IPhiladelphia, PA: Elsevier; 2020: isahl. 104.

I-Turnpenny PD, i-Ellard S, i-Cleaver R. Iimpazamo zokuzalwa zemetabolism. Ku: Turnpenny PD, Ellard S, Cleaver R, ii-eds. Izinto ze-Emery ze-Medical Genetics kunye neGenomics. Ngomhla we-16. IPhiladelphia, PA: Elsevier; 2022: isahluko 18.