Matenda a Niemann-Pick

Nthenda ya Niemann-Pick (NPD) ndi gulu la matenda omwe amapitilira m'mabanja (obadwa nawo) momwe mafuta amatchedwa lipids amatenga m'maselo a ndulu, chiwindi, ndi ubongo.

Pali mitundu itatu yodziwika ya matendawa:

• Lembani A
• Mtundu B
• Mtundu C

Mtundu uliwonse umakhudza ziwalo zosiyanasiyana. Zitha kuphatikizira kapena kuphatikizira dongosolo lamanjenje komanso kupuma. Iliyonse imatha kuyambitsa matenda osiyanasiyana ndipo imatha kuchitika munthawi zosiyanasiyana m'moyo wonse.

Mitundu ya NPD A ndi B imachitika pamene maselo mthupi mulibe enzyme yotchedwa acid sphingomyelinase (ASM). Izi zimathandiza kuwononga (kugaya) mafuta omwe amatchedwa sphingomyelin, omwe amapezeka m'selo iliyonse mthupi.

Ngati ASM ikusowa kapena sikugwira ntchito bwino, sphingomyelin imakhazikika mkati mwa maselo. Izi zimapha ma cell anu ndikupangitsa kuti zikhale zovuta kuti ziwalo zigwire bwino ntchito.

Mtundu A umapezeka m'mitundu yonse komanso mafuko. Ndizofala kwambiri pakati pa Ayuda achi Ashkenazi (Eastern Europe).

Mtundu C umachitika pamene thupi silingathe kuwononga cholesterol ndi mafuta ena (lipids). Izi zimabweretsa cholesterol yochuluka m'chiwindi ndi ndulu komanso zina zamadzimadzi muubongo. Mtundu C umapezeka kwambiri pakati pa anthu ochokera ku Puerto Rico ochokera ku Spain.

Mtundu C1 ndi mtundu wina wa C. Umakhala ndi vuto lomwe limasokoneza momwe cholesterol imasunthira pakati pama cell amubongo. Mtundu uwu udawoneka kokha mwa anthu aku France aku Canada ku Yarmouth County, Nova Scotia.

Zizindikiro zimasiyanasiyana. Matenda ena atha kubweretsa zizindikiro zofananira. Matenda oyamba a matendawa amangoyambitsa zizindikilo zochepa. Munthu sangakhale ndi zizindikilo zonse.

Mtundu A nthawi zambiri umayamba m'miyezi ingapo yoyambirira yamoyo. Zizindikiro zimaphatikizapo:

• M'mimba (m'mimba) kutupa mkati mwa miyezi 3 mpaka 6
• Malo ofiira ofiira kumbuyo kwa diso (pa diso)
• Kudyetsa zovuta
• Kutayika kwamaluso oyendetsa galimoto (kumawonjezeka pakapita nthawi)

Zizindikiro za mtundu wa B nthawi zambiri zimakhala zochepa. Zimachitika kumapeto kwaubwana kapena zaka zaunyamata. Kutupa m'mimba kumatha kuchitika kwa ana aang'ono. Palibe pafupifupi ubongo ndi machitidwe amanjenje, monga kutayika kwa luso lamagalimoto. Ana ena amatha kukhala ndi matenda opuma mobwerezabwereza.

Mitundu C ndi C1 nthawi zambiri zimakhudza ana azaka zopita kusukulu. Komabe, zimatha kuchitika nthawi iliyonse kuyambira ali wakhanda mpaka munthu wamkulu. Zizindikiro zimaphatikizapo:

• Zovuta kusuntha miyendo yomwe ingayambitse kusakhazikika, kusakhazikika, mavuto oyenda
• Kukula kwa nthata
• Kukulitsa chiwindi
• Jaundice pa (kapena posakhalitsa) kubadwa
• Zovuta zakuphunzira ndikuchepa kwanzeru
• Kugwidwa
• Mawu osalankhula, osasinthasintha
• Kutaya mwadzidzidzi kwa kamvekedwe kathupi kamene kangayambitse kugwa
• Kugwedezeka
• Vuto losuntha maso m'mwamba ndi pansi

Kuyezetsa magazi kapena mafupa angapangidwe kuti mupeze mitundu A ndi B. Kuyesaku kumatha kudziwa yemwe ali ndi matendawa, koma sikuwonetsa ngati ndinu wonyamula. Mayeso a DNA atha kuchitidwa kuti mupeze omwe ali ndi mitundu A ndi B.

Kawirikawiri khungu limayesedwa kuti lipeze mitundu C ndi D. Wopereka chithandizo chamankhwala amayang'ana m'mene khungu limakulira, kuyenda, ndi kusunga cholesterol. Mayeso a DNA amathanso kuchitidwa kuti ayang'ane majini awiri omwe amayambitsa matendawa.

Mayesero ena atha kuphatikizira:

• Kukhumba kwamfupa
• Chiwindi cha chiwindi (nthawi zambiri sichofunikira)
• Kuyesa diso la nyali
• Kuyesa kuyesa kuchuluka kwa ASM
  

Pakadali pano, palibe mankhwala othandiza a mtundu A.

Zoyeserera za m'mafupa zitha kuyesedwa pamtundu wa B. Ochita kafukufuku akupitilizabe kufufuza zamankhwala omwe angakhalepo, kuphatikiza ma enzyme ndi ma gene.

Mankhwala atsopano otchedwa miglustat amapezeka pazinthu zamanjenje zamtundu wa C.

Cholesterol wambiri amatha kusamalira ndi zakudya zabwino, zonenepetsa cholesterol kapena mankhwala. Komabe, kafukufuku sakusonyeza kuti njira izi zimalepheretsa matendawa kukula kapena kusintha momwe maselo amawonongera cholesterol. Mankhwala alipo kuti athetse kapena kuchepetsa zizindikilo zambiri, monga kutha kwadzidzidzi kwamphamvu ya minofu ndi khunyu.

Mabungwewa atha kuthandizira ndikudziwitsa zambiri za matenda a Niemann-Pick:

• National Institute of Neurological Disorders and Stroke - www.ninds.nih.gov/Disorders/All-Disorders/Niemann-Pick-Disease-Information-Page
• Nyuzipepala ya National Niemann-Pick Disease Foundation - nnpdf.org
• National Organisation for Rare Disways - rarediseases.org/rare-diseases/niemann-pick-disease-type-c

NPD mtundu A ndi matenda owopsa. Nthawi zambiri zimabweretsa imfa ndi zaka 2 kapena 3.

Omwe ali ndi mtundu B amatha kukhala mochedwa kwambiri mpaka atakula.

Mwana yemwe amawonetsa zizindikiro zamtundu wa C asanakwanitse zaka 1 sangakhale mpaka zaka zakusukulu. Omwe amawonetsa zizindikiro atangolowa sukulu atha kukhala azaka zapakatikati mpaka kumapeto. Ena akhoza kukhala azaka 20.

Pangani msonkhano ndi omwe amakupatsani ngati muli ndi mbiri yokhudza matenda a Niemann-Pick ndipo mukufuna kukhala ndi ana. Kulangizidwa ndi kuwunika kumalimbikitsa.

Itanani omwe akukuthandizani ngati mwana wanu ali ndi zizindikiro za matendawa, kuphatikizapo:

• Mavuto otukuka
• Mavuto akudya
• Kulemera kolemera

Mitundu yonse ya Niemann-Pick ndiyokwaniritsa ma autosomal. Izi zikutanthauza kuti makolo onse amanyamula. Mayi aliyense ali ndi mtundu umodzi wabwinobwino wopanda matendawa.

Pamene makolo onse ali onyamula, pali 25% mwayi woti mwana wawo azikhala ndi matendawa ndi 50% mwayi woti mwana wawo azikhala wonyamula.

Kuyesa kwa wonyamula kumatheka kokha ngati chilema chibadwa chikadziwika. Zolakwika zomwe zimakhudzana ndi mitundu A ndi B zaphunziridwa bwino. Mayeso a DNA amitundu iyi ya Niemann-Pick alipo.

Zofooka za chibadwa zapezeka mu DNA ya anthu ambiri omwe ali ndi mtundu C. Zitha kukhala zotheka kuzindikira anthu omwe ali ndi jini yachilendo.

Malo ochepa amapereka mayeso kuti azindikire kuti mwana akadali m'mimba.

NPD; Kuperewera kwa Sphingomyelinase; Matenda osungira zamadzimadzi - Matenda a Niemann-Pick; Matenda osungira Lysosomal - Niemann-Pick

• Maselo otupa a Niemann-Pick

Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM .. Zofooka pametabolism ya lipids. Mu: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, olemba. Nelson Textbook of Pediatrics. Wolemba 21. Philadelphia, PA: Elsevier; 2020: chap 104.

Turnpenny PD, Ellard S, Cleaver R. Zolakwa zakubadwa zama metabolism. Mu: Turnpenny PD, Ellard S, Cleaver R, olemba. Zinthu za Emery za Medical Genetics ndi Genomics. Wolemba 16. Philadelphia, PA: Elsevier; 2022: mutu 18.