Mtundu wa Mucopolysaccharidosis I

Mtundu wa Mucopolysaccharidosis I (MPS I) ndimatenda osowa omwe thupi limasowa kapena mulibe ma enzyme ofunikira kuti athyole maunyolo ataliatali a mamolekyulu a shuga. Maunyolo a mamolekyulu amatchedwa glycosaminoglycans (omwe kale amatchedwa mucopolysaccharides). Zotsatira zake, mamolekyulu amakhala m'magulu osiyanasiyana amthupi ndipo amayambitsa mavuto osiyanasiyana azaumoyo.

Vutoli ndi la gulu la matenda otchedwa mucopolysaccharidoses (MPSs). MPS I ndikofala kwambiri.

Pali mitundu ina ya MPS, kuphatikiza:

• MPS II (matenda a Hunter)
• MPS III (matenda a Sanfilippo)
• MPS IV (matenda a Morquio)

MPS ndidatengera, zomwe zikutanthauza kuti makolo anu ayenera kukupatsirani matendawa. Ngati makolo onse atenga mtundu wosagwira ntchito wokhudzana ndi vutoli, mwana wawo aliyense ali ndi mwayi 25% (1 mwa 4) wokhala ndi matendawa.

Anthu omwe ali ndi MPS sindipanga enzyme yotchedwa lysosomal alpha-L-iduronidase. Enzyme imeneyi imathandiza kuphulitsa maunyolo a shuga otchedwa glycosaminoglycans. Mamolekyu amenewa amapezeka mthupi lonse, nthawi zambiri amakhala m'matumbo komanso mumadzimadzi ozungulira malo.

Popanda enzyme, ma glycosaminoglycans amamanga ndikuwononga ziwalo, kuphatikizapo mtima. Zizindikiro zimatha kuyambira wofatsa mpaka wolimba. Mawonekedwe ofatsa amatchedwa MPS ochepera ine ndipo mawonekedwe owopsa amatchedwa MPS ovuta I.

Zizindikiro za MPS Nthawi zambiri ndimawoneka pakati pa zaka 3 mpaka 8. Ana omwe ali ndi MPS okhwima ndimakhala ndi zizindikilo koyambirira kuposa omwe alibe mawonekedwe owopsa.

Zina mwazizindikiro ndi izi:

• Mafupa achilendo mumsana
• Kulephera kutsegula zala zonse (claw dzanja)
• Mphepete mwa mitambo
• Kugontha
• Kukulepheretsa kukula
• Mavuto a valavu yamtima
• Matenda olowa, kuphatikizapo kuuma
• Kulemala kwamalingaliro komwe kumawonjezeka pakapita nthawi mu MPS I.
• Wowoneka bwino, wowuma nkhope wokhala ndi mlatho wotsika wamphongo

M'mayiko ena, makanda amayesedwa a MPS I ngati gawo la mayeso owunika omwe angobadwa kumene.

Mayesero ena omwe angachitike kutengera zizindikilo, ndi awa:

• ECG
• Kuyesa kwachibadwa kwa kusintha kwa jini la alpha-L-iduronidase (IDUA)
• Kuyesa kwamikodzo kwa mucopolysaccharides owonjezera
• X-ray ya msana

Chithandizo chothandizira ma enzyme chingalimbikitsidwe. Mankhwalawa, otchedwa laronidase (Aldurazyme), amaperekedwa kudzera mumitsempha (IV, kudzera m'mitsempha). Imachotsa ma enzyme omwe akusowa. Lankhulani ndi omwe amapereka mwana wanu kuti mumve zambiri.

Kuyesera mafupa a mafupa kwayesedwa. Chithandizocho chakhala ndi zotsatira zosiyana.

Mankhwala ena amadalira ziwalo zomwe zakhudzidwa.

Izi zitha kukupatsirani zambiri za MPS I:

• National MPS Society - mpssociety.org
• National Organisation for Rare Disways - rarediseases.org/rare-diseases/mucopolysaccharidosis-type-i
• NIH Genetic and Rare Diseases Information Center - rarediseases.info.nih.gov/diseases/10335/mucopolysaccharidosis-type-i

Ana omwe ali ndi MPS ovuta nthawi zambiri sindichita bwino. Matenda awo amakula kwambiri pakapita nthawi, ndikupangitsa kuti azimwalira ali ndi zaka 10.

Ana omwe ali ndi MPS ochepetsedwa (ochepa mphamvu) ndimakhala ndi zovuta zochepa zathanzi, ndipo ambiri amakhala ndi moyo wabwinobwino mpaka kukhala achikulire.

Itanani omwe akukuthandizani ngati:

• Muli ndi mbiri ya banja la MPS I ndipo mukuganiza zokhala ndi ana
• Mwana wanu amayamba kuwonetsa zizindikiro za MPS I

Akatswiri amalangiza za upangiri ndi kuyesedwa kwa mabanja omwe ali ndi mbiri ya banja la MPS I omwe akuganiza zokhala ndi ana. Kuyezetsa asanabadwe kulipo.

Kuperewera kwa al-L-iduronate; Mucopolysaccharidosis mtundu I; MPs Olimba I; Athetsa MPS I; MPS I H; MPS I S; Matenda a Hurler; Matenda a Scheie; Matenda a Hurler-Scheie; MPS 1 H / S; Matenda osungira Lysosomal - mtundu wa mucopolysaccharidosis I

• Mlatho wotsika wapansi

Pyeritz RE. Matenda obadwa nawo a minofu yolumikizana. Mu: Goldman L, Schafer AI, olemba. Mankhwala a Goldman-Cecil. Wolemba 25. Philadelphia, PA: Elsevier Saunders; 2016: chap 260.

Wolemba JW. Mucopolysaccharidoses. 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: mutu 107.

Turnpenny PD, Ellard S. Zolakwa zakubadwa zama metabolism. Mu: Turnpenny PD, Ellard S, olemba. Zinthu za Emery za Medical Genetics. Wolemba 15. Philadelphia, PA: Elsevier; 2017: mutu 18.