Uhlobo lweMucopolysaccharidosis I

Uhlobo lweMucopolysaccharidosis I (MPS I) sisifo esinqabileyo apho umzimba ulahlekileyo okanye ungenayo ngokwaneleyo i-enzyme efunekayo ukuphula amatyathanga amade eemolekyuli zeswekile. La matyathanga eemolekyuli abizwa ngokuba zii-glycosaminoglycans (eyayibizwa ngokuba yi-mucopolysaccharides). Ngenxa yoko, iimolekyuli zakha kwiindawo ezahlukeneyo zomzimba kwaye zibangela iingxaki zempilo ezahlukeneyo.

Imeko yeqela lezifo ezibizwa ngokuba yi-mucopolysaccharidoses (MPSs). I-MPS yeyona ixhaphakileyo.

Zininzi ezinye iintlobo ze-MPS, kubandakanya:

• I-MPS II (isifo seHunter)
• I-MPS III (iSanfilippo syndrome)
• I-MPS IV (iMorquio syndrome)

Ii-MPS ndizifumene njengelifa, oko kuthetha ukuba abazali bakho kufuneka basigqithisele kuwe esi sifo. Ukuba bobabini abazali baphethe ikopi engasebenziyo yemfuza enxulumene nale meko, umntwana ngamnye kubo une-25% (1 in 4) ithuba lokuphuhlisa esi sifo.

Abantu abane-MPS andenzi i-enzyme ebizwa ngokuba yi-lysosomal alpha-L-iduronidase. Le enzyme inceda ekuqhawuleni imixokelelwane emide yeemolekyuli zeswekile ezibizwa ngokuba zii-glycosaminoglycans. Ezi molekyuli zifumaneka kuwo wonke umzimba, zihlala zikhona kwi-mucus nakwi-fluid ejikeleze amalungu.

Ngaphandle kwe-enzyme, ii-glycosaminoglycans ziyakha kwaye zonakalise amalungu, kubandakanya nentliziyo. Iimpawu zinokuthamba ukusuka kubumnene ukuya kubunzima. Ifom emnene ibizwa ngokuba yi-MPS ye-attenuated I kwaye ifom enobunzima ibizwa ngokuba zii-MPS ezinzima.

Iimpawu ze-MPS ndihlala ndivela phakathi kweminyaka emi-3 ukuya kwe-8. Abantwana abanee-MPS eziqatha ndiba neempawu kwangoko kunalezo zinefom engalunganga.

Ezinye zeempawu zibandakanya:

• Amathambo angaqhelekanga emqolo
• Ukungakwazi ukuvula ngokupheleleyo iminwe (uzipho lwesandla)
• Amagqabi anamafu
• Izithulu
• Ukukhula okumisiweyo
• Iingxaki zevalvu zentliziyo
• Isifo esidibeneyo, kubandakanya ukuqina
• Ukukhubazeka kwengqondo okuya kusiba mandundu ngokuhamba kwexesha kwii-MPS ezinzima I
• Ubungqingqwa, uburhabaxa beempawu zobuso ngeebhulorho ezisezantsi zempumlo

Kwamanye amazwe, iintsana zivavanyelwa i-MPS I njengenxalenye yovavanyo olusandul 'ukuzalwa.

Olunye uvavanyo olunokwenziwa ngokuxhomekeke kwiimpawu, zibandakanya:

• ECG
• Ukuvavanywa kwemfuza yotshintsho kuhlobo lwe-alpha-L-iduronidase (IDUA)
• Uvavanyo lomchamo kwi-mucopolysaccharides eyongezelelweyo
• X-reyi yomqolo

Unyango lokutshintsha i-enzyme lunokucetyiswa. Iyeza, elibizwa ngokuba yi-laronidase (Aldurazyme), linikwa ngomthambo (IV, ngaphakathi). Ifaka endaweni ye-enzyme elahlekileyo. Thetha nomboneleli womntwana wakho ngolwazi olungakumbi.

Ukuzama ukufakelwa umongo wethambo kuzanyiwe. Unyango lube neziphumo ezixubeneyo.

Olunye unyango luxhomekeke kumalungu achaphazelekayo.

Ezi zibonelelo zinokunika ulwazi oluthe kratya malunga ne-MPS I:

• Umbutho weSizwe we-MPS-mpssociety.org
• Umbutho weSizwe woNxunguphalo oluNqabileyo-ararediseases.org/rare-diseases/mucopolysaccharidosis-type-i
• IZiko loLwazi lweZifo zeNiH kunye neRare Rare - rarediseases.info.nih.gov/diseases/10335/mucopolysaccharidosis-type-i

Abantwana abanee-MPS ezinzima andihlali ndenza kakuhle. Iingxaki zabo zempilo ziya zisiba mandundu ngokuhamba kwexesha, zikhokelela ekufeni xa beneminyaka eli-10 ubudala.

Abantwana abanamalungu ePMP ancitshisiweyo ndinengxaki ezimbalwa zempilo, uninzi lwabo luphila ubomi obuqhelekileyo ebudaleni.

Fowunela umnikezeli wakho ukuba:

• Unembali yosapho yee-MPS I kwaye ucinga ukuba nabantwana
• Umntwana wakho uqala ukubonisa iimpawu ze-MPS I

Iingcali zicebisa ngokucebisa ngemfuza kunye nokuvavanywa kwezibini ezinembali yosapho yee-MPS I ezijonga ukuba nabantwana. Uvavanyo lokukhulelwa luyafumaneka.

Ukusilela kwe-Alpha-L-iduronate; Uhlobo lweMucopolysaccharidosis I; Amalungu ePalamente aqatha mna; Amalungu ePalamente atshabalalayo I; MPS I H; MPS I S; Isifo esibuhlungu; Isifo seScheie; Isifo seHurler-Scheie; MPS 1 H / S; Ukugcinwa kwesifo seLysosomal - uhlobo lwe-mucopolysaccharidosis I

• Ibhulorho ngeempumlo Low

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Isitshisi iJW. Iimpawu zeMucopolysaccharidoses. 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. 107.

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