Niemann-Pick chirwere

Niemann-Pick chirwere (NPD) iboka rezvirwere zvakapfuudzwa kuburikidza nemhuri (dzakagara nhaka) umo mafuta zvinhu zvinonzi lipids zvinounganidza mumasero eparopa, chiropa, uye huropi.

Kune matatu mafomu akajairika echirwere.

• Tora A
• Rudzi B
• Type C

Mhando yega yega inosanganisira nhengo dzakasiyana. Iyo inogona kana isingasanganise iyo system yetsinga uye kufema. Imwe neimwe inogona kukonzera zviratidzo zvakasiyana uye inogona kuitika panguva dzakasiyana muhupenyu hwese.

NPD mhando A neB dzinoitika kana masero mumuviri asina enzyme inonzi acid sphingomyelinase (ASM). Chinhu ichi chinobatsira kupaza (metabolism) chinhu chine mafuta chinonzi sphingomyelin, icho chinowanikwa mune yese sero mumuviri.

Kana ASM ikashaikwa kana isingashande nemazvo, sphingomyelin inovaka mukati memasero. Izvi zvinouraya maseru ako uye zvinoita kuti zviomere nhengo kushanda zvakanaka.

Type A inowanikwa mumarudzi ese uye madzinza. Izvo zvinowanzoitika muAshkenazi (Eastern Europe) huwandu hwevaJudha.

Rudzi C runoitika kana muviri usingakwanise kuputsa cholesterol nemamwe mafuta (lipids). Izvi zvinotungamira kune yakawandisa cholesterol muropa uye spleen uye yakawandisa yemamwe lipids muuropi. Rudzi C runowanzoitika pakati pePuerto Ricans veSpanish vanobva.

Type C1 iri mhando yerudzi C. Inosanganisira hurema hunokanganisa mafambiro anoita cholesterol pakati pemasero ehuropi. Rudzi urwu rwakaonekwa chete muFrench Canada vanhu muYarmouth County, Nova Scotia.

Zviratidzo zvinosiyana. Zvimwe zvehutano mamiriro zvinogona kukonzera zvakafanana zviratidzo. Matanho ekutanga echirwere anogona kungokonzeresa mashoma zviratidzo. Munhu anogona kunge asina zviratidzo zvese.

Type A inowanzo kutanga mumwedzi mishoma yekutanga yehupenyu. Zviratidzo zvinogona kusanganisira:

• Abdominal (mudumbu nzvimbo) kuzvimba mukati memwedzi mitatu kusvika kumitanhatu
• Cherry tsvuku nzvimbo kuseri kweziso (pane iyo retina)
• Kudyisa matambudziko
• Kurasikirwa kwekutanga mota hunyanzvi (hunowedzera nekufamba kwenguva)

Rudzi rweB zviratidzo zvinowanzova zvinyoro. Zvinoitika mukupera kwehudiki kana makore ekuyaruka. Kuzvimba mudumbu kunogona kuitika muvana vadiki. Iko kunenge kusingaite huropi uye huta hurongwa hwekubatanidzwa, senge kurasikirwa kwehunyanzvi hwemotokari. Vamwe vana vanogona kunge vakadzokororwa hutachiona hwekufema.

Mhando C uye C1 kazhinji zvinokanganisa vana vezera rechikoro. Zvisinei, zvinogona kuitika chero nguva pakati pekutanga kwehucheche kusvika pakuva munhu mukuru. Zviratidzo zvinogona kusanganisira:

• Zvakaoma kufamba maoko kana maoko zvinogona kutungamira mukusadzikama, kusagadzikana, matambudziko ekufamba
• Yakawedzera spleen
• Yakawedzera chiropa
• Jaundice pa (kana nguva pfupi yapfuura) kuberekwa
• Kudzidza matambudziko uye kuderera kwehungwaru
• Kufenda
• Kutaura, kutaura zvisina kujairika
• Kamwe kamwe kurasikirwa kwemhasuru toni iyo inogona kutungamira kudonha
• Kudengenyeka
• Dambudziko rekufambisa maziso kumusoro uye pasi

Kuongororwa kweropa kana kwemongo wemapfupa kunogona kuitwa kuongorora mhando A uye B. Muedzo unogona kuziva kuti ndiani ane chirwere, asi hazviratidze kana uri mutakuri. Bvunzo dzeDNA dzinogona kuitwa kuongorora vatakuri vemhando A neB.

Ganda biopsy rinowanzoitwa kuongorora mhando C uye D. Anopa hutano anotarisa kukura kunoita maseru eganda, kufamba uye kuchengetedza cholesterol. Bvunzo dzeDNA dzinogona kuitwawo kutsvaga magene maviri anokonzera mhando yechirwere ichi.

Mimwe bvunzo inogona kusanganisira:

• Bone marora kushuvira
• Chiropa biopsy (kazhinji haidiwe)
• Slit-mwenje bvunzo bvunzo
• Kuyedza kutarisa mwero weASM
  

Panguva ino, hapana kurapa kwakanaka kwerudzi A.

Bone marrow transplants inogona kuyedzwa yerudzi B. Vatsvaguri vanoramba vachiongorora marapirwo anogona kuitwa, kusanganisira enzyme kutsiva uye geni kurapa.

Mushonga mutsva unonzi miglustat unowanikwa kune husahwira hwezviratidzo zverudzi C.

Cholesterol yakakwira inogona kutarisirwa nehutano, hwakaderera-cholesterol chikafu kana mishonga. Nekudaro, kutsvagisa hakuratidze kuti nzira idzi dzinomisa chirwere kubva pakuwedzera kana kushandura maseru anoputsa cholesterol. Mishonga inowanikwa kudzora kana kubvisa zviratidzo zvakawanda, zvakadai sekukasika kurasikirwa kwemhasuru toni nekubatwa.

Aya masangano anogona kupa rutsigiro uye rumwe ruzivo nezve Niemann-Pick chirwere:

• National Institute yeNeurological Disorders uye Stroke - www.ninds.nih.gov/Disorders/All-Disorders/Niemann-Pick-Disease-Information-Page
• National Niemann-Sarudza Hosha Chirongwa - nnpdf.org
• National Sangano reRare Dambudziko - rarediseases.org/rare-diseases/niemann-pick-disease-type-c

NPD mhando A chirwere chakakomba. Inowanzoendesa kurufu nezera rechipiri kana matatu.

Ivo vane mhando B vanogona kurarama kusvika kunonoka hudiki kana kuva vanhu vakuru.

Mwana anoratidza zviratidzo zverudzi C asati asvika zera rekutanga anogona kusararama kusvika zera rechikoro. Avo vanoratidza zviratidzo mushure mekupinda chikoro vanogona kugara mukati mavo kusvika pakati-kusvika-kunonoka makore ekuyaruka. Vamwe vanogona kurarama mukati mavo makumi maviri.

Ita musangano nemupi wako kana iwe uine nhoroondo yemhuri yeNiemann-Pick chirwere uye waronga kuita vana. Genetic counselling uye kuongorora kunokurudzirwa.

Fonera mupiki wako kana mwana wako aine zviratidzo zvechirwere ichi, kusanganisira:

• Matambudziko ekuvandudza
• Matambudziko ekudyisa
• Kurera huremu kuwedzera

Mhando dzese dzeNiemann-Pick ndedzekuomesa autosomal. Izvi zvinoreva kuti vese vabereki vatakuri. Mubereki mumwe nemumwe ane kopi imwechete yemagen'a asina kujairika asina kana zviratidzo zvechirwere ivo pachavo.

Kana vaviri vabereki vari vatakuri, pane 25% mukana wekuti mwana wavo ave nechirwere uye ne50% mukana wekuti mwana wavo ave mutakuri.

Kuongorora kwekutakura kunogoneka chete kana urema hwenzara hwaonekwa. Izvo zvinokanganisa zvine chekuita nemhando A uye B zvakanyatsodzidzwa. Bvunzo dzeDNA dzemhando idzi dzeNiemann-Pick dziripo.

Kuremara kwemajini kwakaonekwa muDNA yevanhu vazhinji vane mhando C. Zvinogona kuitika kuti uongorore vanhu vanotakura geni risina kujairika.

Nzvimbo dzinoverengeka dzinopa bvunzo kuti uongorore mwana achiri mudumbu.

NPD; Sphingomyelinase kushomeka; Lipid kuchengetedza dambudziko - Niemann-Pick chirwere; Lysosomal kuchengetedza chirwere - Niemann-Pick

• Niemann-Sarudza foamy masero

Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM .. Kukanganisa kwemetabolism ye lipids. Mune: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Chinyorwa chePediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020: chits. 104.

Turnpenny PD, Ellard S, Cleaver R. Inborn zvikanganiso zve metabolism. Mune: Turnpenny PD, Ellard S, Cleaver R, eds. Zvinhu zveEmery zveMedical Genetics uye Genomics. 16 ed. Philadelphia, PA: Elsevier; 2022: chitsauko 18.